Anemia

TOPLINE:

Secondary cancers were flagged in 4.3% of all adverse event reports among patients who received CAR T therapy, with T-cell malignancies comprising only 0.15% of the total reports and 3.54% of all second primary malignancies, according to an analysis of adverse event reports submitted to the US Food and Drug Administration (FDA).

METHODOLOGY:

• In November 2023, the FDA announced its investigation into whether chimeric antigen receptor (CAR) T-cell immunotherapies can cause secondary blood cancers, specifically T-cell malignancies. At the time, the agency said: “Although the overall benefits of these products continue to outweigh their potential risks for their approved uses, FDA is investigating the identified risk of T-cell malignancy with serious outcomes.”
• In January 2024, the FDA issued boxed warnings on the six approved CART cell therapies, citing the possibility of second primary malignancies, including CAR-positive lymphomas, in patients who had received a CAR T agent.
• To evaluate the extent of these secondary cancers, researchers analyzed the FDA Adverse Event Reporting System database for CAR T-cell reports citing second primary malignancies.

TAKEAWAY:

• Overall, the authors identified 12,394 unique adverse events associated with CAR T therapy; of these, 536 adverse events (4.3%) were second primary malignancies.
• Axicabtagene ciloleucel (axi-cel) and tisagenlecleucel (tis-cel) accounted for most of the second primary malignancies reports — 51.7% (277 of 536 patients) for axi-cel and 33% (177 of 536 patients) for tis-cel.
• The researchers identified 19 cases of T-cell malignancies, representing only 0.15% of all unique adverse events and 3.54% of all second primary malignancies (19 of 536 patients); 17 of these cases were T-cell non-Hodgkin lymphomas, and two were T-cell large granular lymphocytic leukemia.
• Among the reported 536 second primary malignancies, the most frequent cancers were leukemias (333 reports, or 62%), followed by skin neoplasms (54 reports, or 10.1%), hematopoietic neoplasms excluding leukemias and lymphomas (26 reports, 4.85%), nervous system tumors (21 reports, 3.92%), and respiratory neoplasms (20 reports, 3.73%).

IN PRACTICE:

“We will continue to monitor the data released by the FDA to learn more about CAR T-associated risks. However, it’s crucial to stress that the benefits of CAR T-cell therapies still outweigh the risks for the approved indications,” Magdi Elsallab, MD, the study’s co-lead author, said in a news release.

SOURCE:

This work, led by Dr. Elsallab from Harvard Medical School in Boston, was published online on March 14 in Blood.

LIMITATIONS:

The limitations of the analysis include the presence of duplicate report submissions, incomplete data, difficulty establishing causal relationships, and the potential for both underreporting and overreporting based on the severity of adverse events. Furthermore, without the total number of prescribed products, it was difficult to determine the adverse event frequency.

DISCLOSURES:

The study funding source was not disclosed. Some of the authors reported financial ties with various organizations outside this work, including Bristol Myers Squibb, Janssen Biotech, Johnson & Johnson, Kite Pharma, and Novartis.
 

A version of this article appeared on Medscape.com.

TOPLINE:

Secondary cancers were flagged in 4.3% of all adverse event reports among patients who received CAR T therapy, with T-cell malignancies comprising only 0.15% of the total reports and 3.54% of all second primary malignancies, according to an analysis of adverse event reports submitted to the US Food and Drug Administration (FDA).

METHODOLOGY:

• In November 2023, the FDA announced its investigation into whether chimeric antigen receptor (CAR) T-cell immunotherapies can cause secondary blood cancers, specifically T-cell malignancies. At the time, the agency said: “Although the overall benefits of these products continue to outweigh their potential risks for their approved uses, FDA is investigating the identified risk of T-cell malignancy with serious outcomes.”
• In January 2024, the FDA issued boxed warnings on the six approved CART cell therapies, citing the possibility of second primary malignancies, including CAR-positive lymphomas, in patients who had received a CAR T agent.
• To evaluate the extent of these secondary cancers, researchers analyzed the FDA Adverse Event Reporting System database for CAR T-cell reports citing second primary malignancies.

TAKEAWAY:

• Overall, the authors identified 12,394 unique adverse events associated with CAR T therapy; of these, 536 adverse events (4.3%) were second primary malignancies.
• Axicabtagene ciloleucel (axi-cel) and tisagenlecleucel (tis-cel) accounted for most of the second primary malignancies reports — 51.7% (277 of 536 patients) for axi-cel and 33% (177 of 536 patients) for tis-cel.
• The researchers identified 19 cases of T-cell malignancies, representing only 0.15% of all unique adverse events and 3.54% of all second primary malignancies (19 of 536 patients); 17 of these cases were T-cell non-Hodgkin lymphomas, and two were T-cell large granular lymphocytic leukemia.
• Among the reported 536 second primary malignancies, the most frequent cancers were leukemias (333 reports, or 62%), followed by skin neoplasms (54 reports, or 10.1%), hematopoietic neoplasms excluding leukemias and lymphomas (26 reports, 4.85%), nervous system tumors (21 reports, 3.92%), and respiratory neoplasms (20 reports, 3.73%).

IN PRACTICE:

“We will continue to monitor the data released by the FDA to learn more about CAR T-associated risks. However, it’s crucial to stress that the benefits of CAR T-cell therapies still outweigh the risks for the approved indications,” Magdi Elsallab, MD, the study’s co-lead author, said in a news release.

SOURCE:

This work, led by Dr. Elsallab from Harvard Medical School in Boston, was published online on March 14 in Blood.

LIMITATIONS:

The limitations of the analysis include the presence of duplicate report submissions, incomplete data, difficulty establishing causal relationships, and the potential for both underreporting and overreporting based on the severity of adverse events. Furthermore, without the total number of prescribed products, it was difficult to determine the adverse event frequency.

DISCLOSURES:

The study funding source was not disclosed. Some of the authors reported financial ties with various organizations outside this work, including Bristol Myers Squibb, Janssen Biotech, Johnson & Johnson, Kite Pharma, and Novartis.
 

A version of this article appeared on Medscape.com.

TOPLINE:

Secondary cancers were flagged in 4.3% of all adverse event reports among patients who received CAR T therapy, with T-cell malignancies comprising only 0.15% of the total reports and 3.54% of all second primary malignancies, according to an analysis of adverse event reports submitted to the US Food and Drug Administration (FDA).

METHODOLOGY:

• In November 2023, the FDA announced its investigation into whether chimeric antigen receptor (CAR) T-cell immunotherapies can cause secondary blood cancers, specifically T-cell malignancies. At the time, the agency said: “Although the overall benefits of these products continue to outweigh their potential risks for their approved uses, FDA is investigating the identified risk of T-cell malignancy with serious outcomes.”
• In January 2024, the FDA issued boxed warnings on the six approved CART cell therapies, citing the possibility of second primary malignancies, including CAR-positive lymphomas, in patients who had received a CAR T agent.
• To evaluate the extent of these secondary cancers, researchers analyzed the FDA Adverse Event Reporting System database for CAR T-cell reports citing second primary malignancies.

TAKEAWAY:

• Overall, the authors identified 12,394 unique adverse events associated with CAR T therapy; of these, 536 adverse events (4.3%) were second primary malignancies.
• Axicabtagene ciloleucel (axi-cel) and tisagenlecleucel (tis-cel) accounted for most of the second primary malignancies reports — 51.7% (277 of 536 patients) for axi-cel and 33% (177 of 536 patients) for tis-cel.
• The researchers identified 19 cases of T-cell malignancies, representing only 0.15% of all unique adverse events and 3.54% of all second primary malignancies (19 of 536 patients); 17 of these cases were T-cell non-Hodgkin lymphomas, and two were T-cell large granular lymphocytic leukemia.
• Among the reported 536 second primary malignancies, the most frequent cancers were leukemias (333 reports, or 62%), followed by skin neoplasms (54 reports, or 10.1%), hematopoietic neoplasms excluding leukemias and lymphomas (26 reports, 4.85%), nervous system tumors (21 reports, 3.92%), and respiratory neoplasms (20 reports, 3.73%).

IN PRACTICE:

“We will continue to monitor the data released by the FDA to learn more about CAR T-associated risks. However, it’s crucial to stress that the benefits of CAR T-cell therapies still outweigh the risks for the approved indications,” Magdi Elsallab, MD, the study’s co-lead author, said in a news release.

SOURCE:

This work, led by Dr. Elsallab from Harvard Medical School in Boston, was published online on March 14 in Blood.

LIMITATIONS:

The limitations of the analysis include the presence of duplicate report submissions, incomplete data, difficulty establishing causal relationships, and the potential for both underreporting and overreporting based on the severity of adverse events. Furthermore, without the total number of prescribed products, it was difficult to determine the adverse event frequency.

DISCLOSURES:

The study funding source was not disclosed. Some of the authors reported financial ties with various organizations outside this work, including Bristol Myers Squibb, Janssen Biotech, Johnson & Johnson, Kite Pharma, and Novartis.
 

A version of this article appeared on Medscape.com.

SAN DIEGO — The average age of death for Black U.S. patients with sickle cell disease (SCD) rose from 39 years (females = 40, males = 38) in 1999-2009 to 43 years (females = 44, males = 41) in 2010-2020, reflecting improvements in treatment, a new study finds.

But the news is not all positive. Mortality rates still jumped markedly as patients transitioned from pediatric to adult care, lead author Kristine A. Karkoska, MD, a pediatric hematology/oncologist with the University of Cincinnati College of Medicine, said at the annual meeting of the American Society of Hematology.

“This reflects that young adults are getting lost to care, and then they’re presenting with acute, life-threatening complications,” she said. “We still need more emphasis on comprehensive lifetime sickle-cell care and the transition to adult clinics to improve mortality in young adults.”

According to Dr. Karkoska, researchers launched the analysis of sickle-cell mortality rates to update previously available data up to the year 2009, which showed improvements as current standard-of-care treatments were introduced. Updated numbers, she said, would reflect the influence of a rise in dedicated SCD clinics and a 2014 National Heart, Lung, and Blood Institute recommendation that all children with SCD be treated with hydroxyurea starting at 9 months.

For the study, Dr. Karkoska and colleagues analyzed mortality statistics from the period of 1979-2020 via a CDC database. They found that 5272 Black patients died of SCD from 2010 to 2020. The crude mortality rate was 1.1 per 100,000 Black people, lower than the 1.2 per 100,000 rate of 1999-2009 (P < .0001).

The researchers also found that from 2010 to 2020, the mortality rate jumped for patients in the 15-19 to 20-24 age group: It rose from 0.9 per 100,000 to 1.4 per 100,000, P < .0001).

The researchers also examined contributors to death other than SCD. In 39% of cases, underlying causes were noted: cardiovascular disease (28%), accidents (7%), cerebrovascular disease (7%), malignancy (6%), septicemia (4.8%), and renal disease (3.8%). The population of people with SCD is “getting older, and they’re developing a combination of both sickle-related chronic organ damage as well as non-sickle-related chronic disease,” Dr. Karkoska said.

She noted that limitations include a reliance on data that can be incomplete or inaccurate. She also mentioned that the study only focuses on Black patients, who make up the vast majority of those with SCD.

How good is the news about improved mortality numbers? One member of the audience at the ASH presentation was disappointed that they hadn’t gotten even better. “I was hoping to come here to be cheered up,” he said, “and I’m not.”

Three physicians who didn’t take part in the research but are familiar with the new study spoke in interviews about the findings.

Michael Bender, MD, PhD, director of the Odessa Brown Comprehensive Sickle Cell Clinic in Seattle, pointed out that mortality rates improve slowly over time, as new treatments enter the picture. When new therapies come along, he said, “it’s tough if someone’s already 40 years old and their body has gone through a lot. They’re not going to have as much benefit as someone who started [on therapy] when they were 5 years old, and they grew up with that improvement.”

Sickle cell specialist Asmaa Ferdjallah, MD, MPH, of the Mayo Clinic in Rochester, Minnesota, said that the data showing a spike in mortality rates during the pediatric-adult transition are not surprising but still “really hard to digest.”

“It is a testament to the fact that we are not meeting patients where they are,” she said. “We struggle immensely with the transition period. This is something that is difficult across all providers all over the country,” she said. “There are different ways to ensure a successful transition from the pediatric side to the adult side. Here at Mayo Clinic, we use a slow transition, and we rotate appointments with peds and adults until age 30.”

Sophie Miriam Lanzkron, MD, MHS, director of the Sickle Cell Center for Adults at Johns Hopkins Hospital, Baltimore, said increases in mortality in the post-pediatric period appear to be due in part to “lack of access to high-quality sickle cell care for adults because there aren’t enough hematologists.” Worsening disease due to aging is another factor, she said, and “there might also be some behavioral changes. Young people think they will live forever. Sometimes they choose not to adhere to medical recommendations, which for this population is very risky.”

Dr. Lanzkron said her team is developing a long-term patient registry that should provide more insight.

No study funding was reported. Dr. Karkoska had no disclosures. The other coauthor disclosed research funding and safety advisory board relationships with Novartis. Dr. Ferdjallah, Dr. Lanzkron, and Dr. Bender reported no disclosures.

SAN DIEGO — The average age of death for Black U.S. patients with sickle cell disease (SCD) rose from 39 years (females = 40, males = 38) in 1999-2009 to 43 years (females = 44, males = 41) in 2010-2020, reflecting improvements in treatment, a new study finds.

But the news is not all positive. Mortality rates still jumped markedly as patients transitioned from pediatric to adult care, lead author Kristine A. Karkoska, MD, a pediatric hematology/oncologist with the University of Cincinnati College of Medicine, said at the annual meeting of the American Society of Hematology.

“This reflects that young adults are getting lost to care, and then they’re presenting with acute, life-threatening complications,” she said. “We still need more emphasis on comprehensive lifetime sickle-cell care and the transition to adult clinics to improve mortality in young adults.”

According to Dr. Karkoska, researchers launched the analysis of sickle-cell mortality rates to update previously available data up to the year 2009, which showed improvements as current standard-of-care treatments were introduced. Updated numbers, she said, would reflect the influence of a rise in dedicated SCD clinics and a 2014 National Heart, Lung, and Blood Institute recommendation that all children with SCD be treated with hydroxyurea starting at 9 months.

For the study, Dr. Karkoska and colleagues analyzed mortality statistics from the period of 1979-2020 via a CDC database. They found that 5272 Black patients died of SCD from 2010 to 2020. The crude mortality rate was 1.1 per 100,000 Black people, lower than the 1.2 per 100,000 rate of 1999-2009 (P < .0001).

The researchers also found that from 2010 to 2020, the mortality rate jumped for patients in the 15-19 to 20-24 age group: It rose from 0.9 per 100,000 to 1.4 per 100,000, P < .0001).

The researchers also examined contributors to death other than SCD. In 39% of cases, underlying causes were noted: cardiovascular disease (28%), accidents (7%), cerebrovascular disease (7%), malignancy (6%), septicemia (4.8%), and renal disease (3.8%). The population of people with SCD is “getting older, and they’re developing a combination of both sickle-related chronic organ damage as well as non-sickle-related chronic disease,” Dr. Karkoska said.

She noted that limitations include a reliance on data that can be incomplete or inaccurate. She also mentioned that the study only focuses on Black patients, who make up the vast majority of those with SCD.

How good is the news about improved mortality numbers? One member of the audience at the ASH presentation was disappointed that they hadn’t gotten even better. “I was hoping to come here to be cheered up,” he said, “and I’m not.”

Three physicians who didn’t take part in the research but are familiar with the new study spoke in interviews about the findings.

Michael Bender, MD, PhD, director of the Odessa Brown Comprehensive Sickle Cell Clinic in Seattle, pointed out that mortality rates improve slowly over time, as new treatments enter the picture. When new therapies come along, he said, “it’s tough if someone’s already 40 years old and their body has gone through a lot. They’re not going to have as much benefit as someone who started [on therapy] when they were 5 years old, and they grew up with that improvement.”

Sickle cell specialist Asmaa Ferdjallah, MD, MPH, of the Mayo Clinic in Rochester, Minnesota, said that the data showing a spike in mortality rates during the pediatric-adult transition are not surprising but still “really hard to digest.”

“It is a testament to the fact that we are not meeting patients where they are,” she said. “We struggle immensely with the transition period. This is something that is difficult across all providers all over the country,” she said. “There are different ways to ensure a successful transition from the pediatric side to the adult side. Here at Mayo Clinic, we use a slow transition, and we rotate appointments with peds and adults until age 30.”

Sophie Miriam Lanzkron, MD, MHS, director of the Sickle Cell Center for Adults at Johns Hopkins Hospital, Baltimore, said increases in mortality in the post-pediatric period appear to be due in part to “lack of access to high-quality sickle cell care for adults because there aren’t enough hematologists.” Worsening disease due to aging is another factor, she said, and “there might also be some behavioral changes. Young people think they will live forever. Sometimes they choose not to adhere to medical recommendations, which for this population is very risky.”

Dr. Lanzkron said her team is developing a long-term patient registry that should provide more insight.

No study funding was reported. Dr. Karkoska had no disclosures. The other coauthor disclosed research funding and safety advisory board relationships with Novartis. Dr. Ferdjallah, Dr. Lanzkron, and Dr. Bender reported no disclosures.

SAN DIEGO — The average age of death for Black U.S. patients with sickle cell disease (SCD) rose from 39 years (females = 40, males = 38) in 1999-2009 to 43 years (females = 44, males = 41) in 2010-2020, reflecting improvements in treatment, a new study finds.

But the news is not all positive. Mortality rates still jumped markedly as patients transitioned from pediatric to adult care, lead author Kristine A. Karkoska, MD, a pediatric hematology/oncologist with the University of Cincinnati College of Medicine, said at the annual meeting of the American Society of Hematology.

“This reflects that young adults are getting lost to care, and then they’re presenting with acute, life-threatening complications,” she said. “We still need more emphasis on comprehensive lifetime sickle-cell care and the transition to adult clinics to improve mortality in young adults.”

According to Dr. Karkoska, researchers launched the analysis of sickle-cell mortality rates to update previously available data up to the year 2009, which showed improvements as current standard-of-care treatments were introduced. Updated numbers, she said, would reflect the influence of a rise in dedicated SCD clinics and a 2014 National Heart, Lung, and Blood Institute recommendation that all children with SCD be treated with hydroxyurea starting at 9 months.

For the study, Dr. Karkoska and colleagues analyzed mortality statistics from the period of 1979-2020 via a CDC database. They found that 5272 Black patients died of SCD from 2010 to 2020. The crude mortality rate was 1.1 per 100,000 Black people, lower than the 1.2 per 100,000 rate of 1999-2009 (P < .0001).

The researchers also found that from 2010 to 2020, the mortality rate jumped for patients in the 15-19 to 20-24 age group: It rose from 0.9 per 100,000 to 1.4 per 100,000, P < .0001).

The researchers also examined contributors to death other than SCD. In 39% of cases, underlying causes were noted: cardiovascular disease (28%), accidents (7%), cerebrovascular disease (7%), malignancy (6%), septicemia (4.8%), and renal disease (3.8%). The population of people with SCD is “getting older, and they’re developing a combination of both sickle-related chronic organ damage as well as non-sickle-related chronic disease,” Dr. Karkoska said.

She noted that limitations include a reliance on data that can be incomplete or inaccurate. She also mentioned that the study only focuses on Black patients, who make up the vast majority of those with SCD.

How good is the news about improved mortality numbers? One member of the audience at the ASH presentation was disappointed that they hadn’t gotten even better. “I was hoping to come here to be cheered up,” he said, “and I’m not.”

Three physicians who didn’t take part in the research but are familiar with the new study spoke in interviews about the findings.

Michael Bender, MD, PhD, director of the Odessa Brown Comprehensive Sickle Cell Clinic in Seattle, pointed out that mortality rates improve slowly over time, as new treatments enter the picture. When new therapies come along, he said, “it’s tough if someone’s already 40 years old and their body has gone through a lot. They’re not going to have as much benefit as someone who started [on therapy] when they were 5 years old, and they grew up with that improvement.”

Sickle cell specialist Asmaa Ferdjallah, MD, MPH, of the Mayo Clinic in Rochester, Minnesota, said that the data showing a spike in mortality rates during the pediatric-adult transition are not surprising but still “really hard to digest.”

“It is a testament to the fact that we are not meeting patients where they are,” she said. “We struggle immensely with the transition period. This is something that is difficult across all providers all over the country,” she said. “There are different ways to ensure a successful transition from the pediatric side to the adult side. Here at Mayo Clinic, we use a slow transition, and we rotate appointments with peds and adults until age 30.”

Sophie Miriam Lanzkron, MD, MHS, director of the Sickle Cell Center for Adults at Johns Hopkins Hospital, Baltimore, said increases in mortality in the post-pediatric period appear to be due in part to “lack of access to high-quality sickle cell care for adults because there aren’t enough hematologists.” Worsening disease due to aging is another factor, she said, and “there might also be some behavioral changes. Young people think they will live forever. Sometimes they choose not to adhere to medical recommendations, which for this population is very risky.”

Dr. Lanzkron said her team is developing a long-term patient registry that should provide more insight.

No study funding was reported. Dr. Karkoska had no disclosures. The other coauthor disclosed research funding and safety advisory board relationships with Novartis. Dr. Ferdjallah, Dr. Lanzkron, and Dr. Bender reported no disclosures.

SAN DIEGO — A small group of adult and pediatric patients with sickle cell disease (SCD) reached high 2-year survival after undergoing reduced-intensity haploidentical stem cell transplantation, a new phase 2 trial reports. It is much easier to find eligible haploidentical donors — half-matched or partially matched — than eligible hematopoietic donors.

Of 42 patients aged 15-45 who were fully treated, 95% survived to 2 years post transplant (overall survival, (95% CI, 81.5%-98.7%), and 88% reached the primary endpoint of event-free survival at 2 years (95% CI, 73.5%-94.8%), according to the findings, which were released at the annual meeting of the American Society of Hematology.

At an ASH news briefing, study lead author Adetola A. Kassim, MBBS, MS, of Vanderbilt University Medical Center, in Nashville, Tennessee, said the results support haploidentical stem cell transplants “as a suitable and tolerable curative therapy for adults with sickle cell disease and severe end-organ toxicity such as stroke or pulmonary hypertension, a population typically excluded from participating in gene therapy.”

Dr. Kassim added that the findings are especially promising since there are so many potential donors in stem-cell transplants: “Your siblings can be donors, your parents can be donors, your cousins can be donors. First-, second-, and third-degree relatives can be donors. So there’s really endless donors within the family.”

In an interview, Mayo Clinic SCD specialist Asmaa Ferdjallah, MD, MPH, of Mayo Clinic in Rochester, Minnesota, who was not involved with the study but is familiar with its findings, said stem cell transplant is the only option to cure SCD.

“This is advantageous because SCD is otherwise a chronic disease that is marked by chronic pain, risk of stroke, frequent interruptions of school/work due to sick days, and decreased life span,” she said. “Most patients, assuming they can tolerate the conditioning chemotherapy that is given before transplant, are eligible.”

Matched sibling donors are preferable, but they can be hard to find, she said. It hasn’t been clear whether half-matched donors are feasible options in SCD, she said. “This means that, if you are a patient with sickle cell disease, and you don’t have a suitable matched donor, haploidentical transplant is not a recommendation we can make outside of enrollment in a clinical trial.”

For the study, researchers enlisted 54 patients with SCD and prior stroke, recurrent acute chest syndrome or pain, chronic transfusion regimen, or tricuspid valve regurgitant jet velocity ≥2.7 m/sec. Participants had to have an HLA-haploidentical first-degree relative donor who would donate bone marrow.

“The median age was 22.8 years at enrollment; 47/54 (87%) of enrolled participants had hemoglobin SS disease, 40/54 (74.1%) had a Lansky/Karnofsky score of 90-100 at baseline, and 41/54 (75.9%) had an HLA match score of 4/8,” the researchers reported. “Recurrent vaso-occlusive pain episodes (38.9%), acute chest syndrome (16.8%), and overt stroke (16.7%) were the most common indications for transplant.”

“We knew going into this that we were going to get very high-risk patients,” Dr. Kassim said.

Forty-two patients went through with transplants. As for adverse events, 2 patients died, all within the first year, of organ failure and acute respiratory distress syndrome; 4.8% of participants had primary graft failure, and 2.4% had secondary graft failure before day 100. “The cumulative incidence of grades II-IV acute GVHD [graft-versus-host disease] at day 100 was 26.2% (95% CI, 14.0%-40.2%), and grades III-IV acute GVHD at day 100 was 4.8% (95% CI, 0.9%-14.4%).”

The outcomes are similar to those in transplants with matched sibling donors, Dr. Kassim said.

Dr. Ferdjallah said the new study is “robust” and impressive, although it’s small.

“As a clinician, these are the kind of outcomes I have been hoping for,” Dr. Ferdjallah said. “I have been very reluctant to suggest haploidentical transplant for my sickle cell disease patients. However, reviewing the results of this study with my motivated patients and families can help us both to use shared medical decision-making and come together with what is best for that specific patient.”

As for adverse events, she said they “confirm a fear of using haploidentical transplant, which is graft failure. Fortunately, out of 42 who proceeded to transplant, only 2 had primary graft failure and 1 had secondary graft failure. This is not overtly a large number. Of course, we would hope for more durable engraftment. The other side effects including GVHD and infection are all to be expected.”

As for cost, Dr. Kassim said the transplants run from $200,000 to $400,000 vs over $2 million for gene therapy, and Dr. Ferdjallah said insurance is likely to cover the treatment.

Moving ahead, Dr. Ferdjallah said she looks forward to getting study data about pediatric patients specifically. For now, “we should consider HLA-haploidentical seriously in patients with sickle cell disease and no available HLA-matched donors.”

Grants to the Blood and Marrow Transplant Clinical Trials Network from the National Heart, Lung, and Blood Institute and National Cancer Institute funded the study. Dr. Kassim had no disclosures. Some other authors disclosed various and multiple relationships with industry. Dr. Ferdjallah has no disclosures.

SAN DIEGO — A small group of adult and pediatric patients with sickle cell disease (SCD) reached high 2-year survival after undergoing reduced-intensity haploidentical stem cell transplantation, a new phase 2 trial reports. It is much easier to find eligible haploidentical donors — half-matched or partially matched — than eligible hematopoietic donors.

Of 42 patients aged 15-45 who were fully treated, 95% survived to 2 years post transplant (overall survival, (95% CI, 81.5%-98.7%), and 88% reached the primary endpoint of event-free survival at 2 years (95% CI, 73.5%-94.8%), according to the findings, which were released at the annual meeting of the American Society of Hematology.

At an ASH news briefing, study lead author Adetola A. Kassim, MBBS, MS, of Vanderbilt University Medical Center, in Nashville, Tennessee, said the results support haploidentical stem cell transplants “as a suitable and tolerable curative therapy for adults with sickle cell disease and severe end-organ toxicity such as stroke or pulmonary hypertension, a population typically excluded from participating in gene therapy.”

Dr. Kassim added that the findings are especially promising since there are so many potential donors in stem-cell transplants: “Your siblings can be donors, your parents can be donors, your cousins can be donors. First-, second-, and third-degree relatives can be donors. So there’s really endless donors within the family.”

In an interview, Mayo Clinic SCD specialist Asmaa Ferdjallah, MD, MPH, of Mayo Clinic in Rochester, Minnesota, who was not involved with the study but is familiar with its findings, said stem cell transplant is the only option to cure SCD.

“This is advantageous because SCD is otherwise a chronic disease that is marked by chronic pain, risk of stroke, frequent interruptions of school/work due to sick days, and decreased life span,” she said. “Most patients, assuming they can tolerate the conditioning chemotherapy that is given before transplant, are eligible.”

Matched sibling donors are preferable, but they can be hard to find, she said. It hasn’t been clear whether half-matched donors are feasible options in SCD, she said. “This means that, if you are a patient with sickle cell disease, and you don’t have a suitable matched donor, haploidentical transplant is not a recommendation we can make outside of enrollment in a clinical trial.”

For the study, researchers enlisted 54 patients with SCD and prior stroke, recurrent acute chest syndrome or pain, chronic transfusion regimen, or tricuspid valve regurgitant jet velocity ≥2.7 m/sec. Participants had to have an HLA-haploidentical first-degree relative donor who would donate bone marrow.

“The median age was 22.8 years at enrollment; 47/54 (87%) of enrolled participants had hemoglobin SS disease, 40/54 (74.1%) had a Lansky/Karnofsky score of 90-100 at baseline, and 41/54 (75.9%) had an HLA match score of 4/8,” the researchers reported. “Recurrent vaso-occlusive pain episodes (38.9%), acute chest syndrome (16.8%), and overt stroke (16.7%) were the most common indications for transplant.”

“We knew going into this that we were going to get very high-risk patients,” Dr. Kassim said.

Forty-two patients went through with transplants. As for adverse events, 2 patients died, all within the first year, of organ failure and acute respiratory distress syndrome; 4.8% of participants had primary graft failure, and 2.4% had secondary graft failure before day 100. “The cumulative incidence of grades II-IV acute GVHD [graft-versus-host disease] at day 100 was 26.2% (95% CI, 14.0%-40.2%), and grades III-IV acute GVHD at day 100 was 4.8% (95% CI, 0.9%-14.4%).”

The outcomes are similar to those in transplants with matched sibling donors, Dr. Kassim said.

Dr. Ferdjallah said the new study is “robust” and impressive, although it’s small.

“As a clinician, these are the kind of outcomes I have been hoping for,” Dr. Ferdjallah said. “I have been very reluctant to suggest haploidentical transplant for my sickle cell disease patients. However, reviewing the results of this study with my motivated patients and families can help us both to use shared medical decision-making and come together with what is best for that specific patient.”

As for adverse events, she said they “confirm a fear of using haploidentical transplant, which is graft failure. Fortunately, out of 42 who proceeded to transplant, only 2 had primary graft failure and 1 had secondary graft failure. This is not overtly a large number. Of course, we would hope for more durable engraftment. The other side effects including GVHD and infection are all to be expected.”

As for cost, Dr. Kassim said the transplants run from $200,000 to $400,000 vs over $2 million for gene therapy, and Dr. Ferdjallah said insurance is likely to cover the treatment.

Moving ahead, Dr. Ferdjallah said she looks forward to getting study data about pediatric patients specifically. For now, “we should consider HLA-haploidentical seriously in patients with sickle cell disease and no available HLA-matched donors.”

Grants to the Blood and Marrow Transplant Clinical Trials Network from the National Heart, Lung, and Blood Institute and National Cancer Institute funded the study. Dr. Kassim had no disclosures. Some other authors disclosed various and multiple relationships with industry. Dr. Ferdjallah has no disclosures.

SAN DIEGO — A small group of adult and pediatric patients with sickle cell disease (SCD) reached high 2-year survival after undergoing reduced-intensity haploidentical stem cell transplantation, a new phase 2 trial reports. It is much easier to find eligible haploidentical donors — half-matched or partially matched — than eligible hematopoietic donors.

Of 42 patients aged 15-45 who were fully treated, 95% survived to 2 years post transplant (overall survival, (95% CI, 81.5%-98.7%), and 88% reached the primary endpoint of event-free survival at 2 years (95% CI, 73.5%-94.8%), according to the findings, which were released at the annual meeting of the American Society of Hematology.

At an ASH news briefing, study lead author Adetola A. Kassim, MBBS, MS, of Vanderbilt University Medical Center, in Nashville, Tennessee, said the results support haploidentical stem cell transplants “as a suitable and tolerable curative therapy for adults with sickle cell disease and severe end-organ toxicity such as stroke or pulmonary hypertension, a population typically excluded from participating in gene therapy.”

Dr. Kassim added that the findings are especially promising since there are so many potential donors in stem-cell transplants: “Your siblings can be donors, your parents can be donors, your cousins can be donors. First-, second-, and third-degree relatives can be donors. So there’s really endless donors within the family.”

In an interview, Mayo Clinic SCD specialist Asmaa Ferdjallah, MD, MPH, of Mayo Clinic in Rochester, Minnesota, who was not involved with the study but is familiar with its findings, said stem cell transplant is the only option to cure SCD.

“This is advantageous because SCD is otherwise a chronic disease that is marked by chronic pain, risk of stroke, frequent interruptions of school/work due to sick days, and decreased life span,” she said. “Most patients, assuming they can tolerate the conditioning chemotherapy that is given before transplant, are eligible.”

Matched sibling donors are preferable, but they can be hard to find, she said. It hasn’t been clear whether half-matched donors are feasible options in SCD, she said. “This means that, if you are a patient with sickle cell disease, and you don’t have a suitable matched donor, haploidentical transplant is not a recommendation we can make outside of enrollment in a clinical trial.”

For the study, researchers enlisted 54 patients with SCD and prior stroke, recurrent acute chest syndrome or pain, chronic transfusion regimen, or tricuspid valve regurgitant jet velocity ≥2.7 m/sec. Participants had to have an HLA-haploidentical first-degree relative donor who would donate bone marrow.

“The median age was 22.8 years at enrollment; 47/54 (87%) of enrolled participants had hemoglobin SS disease, 40/54 (74.1%) had a Lansky/Karnofsky score of 90-100 at baseline, and 41/54 (75.9%) had an HLA match score of 4/8,” the researchers reported. “Recurrent vaso-occlusive pain episodes (38.9%), acute chest syndrome (16.8%), and overt stroke (16.7%) were the most common indications for transplant.”

“We knew going into this that we were going to get very high-risk patients,” Dr. Kassim said.

Forty-two patients went through with transplants. As for adverse events, 2 patients died, all within the first year, of organ failure and acute respiratory distress syndrome; 4.8% of participants had primary graft failure, and 2.4% had secondary graft failure before day 100. “The cumulative incidence of grades II-IV acute GVHD [graft-versus-host disease] at day 100 was 26.2% (95% CI, 14.0%-40.2%), and grades III-IV acute GVHD at day 100 was 4.8% (95% CI, 0.9%-14.4%).”

The outcomes are similar to those in transplants with matched sibling donors, Dr. Kassim said.

Dr. Ferdjallah said the new study is “robust” and impressive, although it’s small.

“As a clinician, these are the kind of outcomes I have been hoping for,” Dr. Ferdjallah said. “I have been very reluctant to suggest haploidentical transplant for my sickle cell disease patients. However, reviewing the results of this study with my motivated patients and families can help us both to use shared medical decision-making and come together with what is best for that specific patient.”

As for adverse events, she said they “confirm a fear of using haploidentical transplant, which is graft failure. Fortunately, out of 42 who proceeded to transplant, only 2 had primary graft failure and 1 had secondary graft failure. This is not overtly a large number. Of course, we would hope for more durable engraftment. The other side effects including GVHD and infection are all to be expected.”

As for cost, Dr. Kassim said the transplants run from $200,000 to $400,000 vs over $2 million for gene therapy, and Dr. Ferdjallah said insurance is likely to cover the treatment.

Moving ahead, Dr. Ferdjallah said she looks forward to getting study data about pediatric patients specifically. For now, “we should consider HLA-haploidentical seriously in patients with sickle cell disease and no available HLA-matched donors.”

Grants to the Blood and Marrow Transplant Clinical Trials Network from the National Heart, Lung, and Blood Institute and National Cancer Institute funded the study. Dr. Kassim had no disclosures. Some other authors disclosed various and multiple relationships with industry. Dr. Ferdjallah has no disclosures.

SAN DIEGO — A newly approved gene therapy product for sickle cell disease, lovotibeglogene autotemcel (lovo-cel, marketed as Lyfgenia), led to durable disease remissions for up to 5 years and almost complete elimination of dangerous and debilitating vaso-occlusive events, according to results of a long-term follow-up study.

More specifically, a single infusion of lovo-cel led to complete resolution of vaso-occlusive events in 88% of patients, with 94% achieving complete resolution of severe events. All 10 adolescents in the study achieved complete resolution of vaso-occlusive events. Most patients remained free of vaso-occlusive events at their last follow-up.

“This is a one-time, truly transformative treatment with lovo-cel,” lead author Julie Kanter, MD, director of the adult sickle cell clinic at the University of Alabama in Birmingham, said in a media briefing at the annual meeting of the American Society of Hematology. The gene therapy can essentially eliminate vaso-occlusive events in patients with sickle cell disease and lead to normal hemoglobin levels, Dr. Kanter added. 

For “anybody who has rounded on the inpatient floor and taken care of adolescents admitted with a pain crisis multiple times a year,” seeing these results “is so compelling,” commented Sarah O’Brien, MD, a pediatric hematologist at Nationwide Children’s Hospital in Columbus, Ohio, who moderated the briefing but was not involved in the study.
 

One and Done

Sickle cell disease, a debilitating and potentially life-threatening blood disorder, affects an estimated 100,000 people in the US. 

People with the condition have a mutation in hemoglobin, which causes red blood cells to develop an abnormal sickle shape. These sickled cells block the flow of blood, ultimately depriving tissues of oxygen and leading to organ damage and severe pain, known as vaso-occlusive events. 

On Dec. 8, the U.S. Food and Drug Administration (FDA) approved lovo-cel for patients aged 12 years or older with severe sickle cell disease alongside another gene-editing therapy called exagamglogene autotemcel or exa-cel (Casgevy, Vertex Pharmaceuticals and Crispr Therapeutics). The two therapies use different gene-editing approaches — exa-cel is the first to use the gene-editing tool CRISPR while lovo-cel uses a lentiviral vector.

Both are one-time, single-dose cell-based gene therapies.

With lovo-cel, patients first undergo a transfusion regimen and myeloablative conditioning with busulfan to collect cells that can then be genetically modified. A patient’s harvested cells are modified with an anti-sickling version of hemoglobin A, HbAT87Q. Patients then receive an infusion of these edited cells and remain in the hospital during engraftment and reconstitution.

Dr. Kanter presented long-term follow-up data on 47 patients enrolled in phase 1/2 and phase 3 studies of lovo-cel. 

All patients had stable HbAT87Q levels from 6 months to their last follow-up at a median of 35.5 months. 

Most patients achieved a durable globin response through their final follow-up visit.

Among the 34 evaluable patients, 88% had complete resolution of vaso-occlusive events 6 to 18 months after their infusion, including all 10 adolescent patients. Almost all patients (94%) achieved complete resolution of serious vaso-occlusive events. 

In the few patients who experienced posttreatment vaso-occlusive events, these individuals still achieved major reductions in hospital admissions and hospital days.

Among 20 patients followed for at least 3 years, more than half had clinically meaningful improvements in pain intensity, pain interference, and fatigue.

Most treatment-related adverse events occurred within 1 year of lovo-cel infusions and were primarily related to busulfan conditioning. No cases of veno-occlusive liver disease, graft failure, or graft vs host disease occurred, and patients did not have complications related to the viral vector. No patients who had a history of stroke prior to lovo-cel therapy experienced a post-therapy stroke. 

One patient died at baseline from significant cardiopulmonary disease related to sickle cell disease, but the death was considered unrelated to lovo-cel therapy.

To see a one-time treatment that essentially eradicates vaso-occlusive events is “really unparalleled,” said Steven Pipe, MD, from the University of Michigan School of Medicine in Ann Arbor, who presented data on a different study at the briefing.

However, Dr. Kanter noted, “it’s important to highlight that many of these individuals come into this therapy with significant disease and end-organ complications, and this will be something we will really need to follow long-term to understand how much this therapy can stabilize or reverse these complications.”

The studies were funded by bluebird bio. Dr. Kanter disclosed honoraria from the company and consulting/advising activities and receipt of research funding from multiple other entities. Dr. O’Brien disclosed consultancy for AstraZeneca, honoraria from Pharmacosmos, and research funding from Bristol Myers Squibb. Dr. Pipe disclosed consulting activities from multiple companies, not including bluebird bio. 

A version of this article appeared on Medscape.com.

SAN DIEGO — A newly approved gene therapy product for sickle cell disease, lovotibeglogene autotemcel (lovo-cel, marketed as Lyfgenia), led to durable disease remissions for up to 5 years and almost complete elimination of dangerous and debilitating vaso-occlusive events, according to results of a long-term follow-up study.

More specifically, a single infusion of lovo-cel led to complete resolution of vaso-occlusive events in 88% of patients, with 94% achieving complete resolution of severe events. All 10 adolescents in the study achieved complete resolution of vaso-occlusive events. Most patients remained free of vaso-occlusive events at their last follow-up.

“This is a one-time, truly transformative treatment with lovo-cel,” lead author Julie Kanter, MD, director of the adult sickle cell clinic at the University of Alabama in Birmingham, said in a media briefing at the annual meeting of the American Society of Hematology. The gene therapy can essentially eliminate vaso-occlusive events in patients with sickle cell disease and lead to normal hemoglobin levels, Dr. Kanter added. 

For “anybody who has rounded on the inpatient floor and taken care of adolescents admitted with a pain crisis multiple times a year,” seeing these results “is so compelling,” commented Sarah O’Brien, MD, a pediatric hematologist at Nationwide Children’s Hospital in Columbus, Ohio, who moderated the briefing but was not involved in the study.
 

One and Done

Sickle cell disease, a debilitating and potentially life-threatening blood disorder, affects an estimated 100,000 people in the US. 

People with the condition have a mutation in hemoglobin, which causes red blood cells to develop an abnormal sickle shape. These sickled cells block the flow of blood, ultimately depriving tissues of oxygen and leading to organ damage and severe pain, known as vaso-occlusive events. 

On Dec. 8, the U.S. Food and Drug Administration (FDA) approved lovo-cel for patients aged 12 years or older with severe sickle cell disease alongside another gene-editing therapy called exagamglogene autotemcel or exa-cel (Casgevy, Vertex Pharmaceuticals and Crispr Therapeutics). The two therapies use different gene-editing approaches — exa-cel is the first to use the gene-editing tool CRISPR while lovo-cel uses a lentiviral vector.

Both are one-time, single-dose cell-based gene therapies.

With lovo-cel, patients first undergo a transfusion regimen and myeloablative conditioning with busulfan to collect cells that can then be genetically modified. A patient’s harvested cells are modified with an anti-sickling version of hemoglobin A, HbAT87Q. Patients then receive an infusion of these edited cells and remain in the hospital during engraftment and reconstitution.

Dr. Kanter presented long-term follow-up data on 47 patients enrolled in phase 1/2 and phase 3 studies of lovo-cel. 

All patients had stable HbAT87Q levels from 6 months to their last follow-up at a median of 35.5 months. 

Most patients achieved a durable globin response through their final follow-up visit.

Among the 34 evaluable patients, 88% had complete resolution of vaso-occlusive events 6 to 18 months after their infusion, including all 10 adolescent patients. Almost all patients (94%) achieved complete resolution of serious vaso-occlusive events. 

In the few patients who experienced posttreatment vaso-occlusive events, these individuals still achieved major reductions in hospital admissions and hospital days.

Among 20 patients followed for at least 3 years, more than half had clinically meaningful improvements in pain intensity, pain interference, and fatigue.

Most treatment-related adverse events occurred within 1 year of lovo-cel infusions and were primarily related to busulfan conditioning. No cases of veno-occlusive liver disease, graft failure, or graft vs host disease occurred, and patients did not have complications related to the viral vector. No patients who had a history of stroke prior to lovo-cel therapy experienced a post-therapy stroke. 

One patient died at baseline from significant cardiopulmonary disease related to sickle cell disease, but the death was considered unrelated to lovo-cel therapy.

To see a one-time treatment that essentially eradicates vaso-occlusive events is “really unparalleled,” said Steven Pipe, MD, from the University of Michigan School of Medicine in Ann Arbor, who presented data on a different study at the briefing.

However, Dr. Kanter noted, “it’s important to highlight that many of these individuals come into this therapy with significant disease and end-organ complications, and this will be something we will really need to follow long-term to understand how much this therapy can stabilize or reverse these complications.”

The studies were funded by bluebird bio. Dr. Kanter disclosed honoraria from the company and consulting/advising activities and receipt of research funding from multiple other entities. Dr. O’Brien disclosed consultancy for AstraZeneca, honoraria from Pharmacosmos, and research funding from Bristol Myers Squibb. Dr. Pipe disclosed consulting activities from multiple companies, not including bluebird bio. 

A version of this article appeared on Medscape.com.

SAN DIEGO — A newly approved gene therapy product for sickle cell disease, lovotibeglogene autotemcel (lovo-cel, marketed as Lyfgenia), led to durable disease remissions for up to 5 years and almost complete elimination of dangerous and debilitating vaso-occlusive events, according to results of a long-term follow-up study.

More specifically, a single infusion of lovo-cel led to complete resolution of vaso-occlusive events in 88% of patients, with 94% achieving complete resolution of severe events. All 10 adolescents in the study achieved complete resolution of vaso-occlusive events. Most patients remained free of vaso-occlusive events at their last follow-up.

“This is a one-time, truly transformative treatment with lovo-cel,” lead author Julie Kanter, MD, director of the adult sickle cell clinic at the University of Alabama in Birmingham, said in a media briefing at the annual meeting of the American Society of Hematology. The gene therapy can essentially eliminate vaso-occlusive events in patients with sickle cell disease and lead to normal hemoglobin levels, Dr. Kanter added. 

For “anybody who has rounded on the inpatient floor and taken care of adolescents admitted with a pain crisis multiple times a year,” seeing these results “is so compelling,” commented Sarah O’Brien, MD, a pediatric hematologist at Nationwide Children’s Hospital in Columbus, Ohio, who moderated the briefing but was not involved in the study.
 

One and Done

Sickle cell disease, a debilitating and potentially life-threatening blood disorder, affects an estimated 100,000 people in the US. 

People with the condition have a mutation in hemoglobin, which causes red blood cells to develop an abnormal sickle shape. These sickled cells block the flow of blood, ultimately depriving tissues of oxygen and leading to organ damage and severe pain, known as vaso-occlusive events. 

On Dec. 8, the U.S. Food and Drug Administration (FDA) approved lovo-cel for patients aged 12 years or older with severe sickle cell disease alongside another gene-editing therapy called exagamglogene autotemcel or exa-cel (Casgevy, Vertex Pharmaceuticals and Crispr Therapeutics). The two therapies use different gene-editing approaches — exa-cel is the first to use the gene-editing tool CRISPR while lovo-cel uses a lentiviral vector.

Both are one-time, single-dose cell-based gene therapies.

With lovo-cel, patients first undergo a transfusion regimen and myeloablative conditioning with busulfan to collect cells that can then be genetically modified. A patient’s harvested cells are modified with an anti-sickling version of hemoglobin A, HbAT87Q. Patients then receive an infusion of these edited cells and remain in the hospital during engraftment and reconstitution.

Dr. Kanter presented long-term follow-up data on 47 patients enrolled in phase 1/2 and phase 3 studies of lovo-cel. 

All patients had stable HbAT87Q levels from 6 months to their last follow-up at a median of 35.5 months. 

Most patients achieved a durable globin response through their final follow-up visit.

Among the 34 evaluable patients, 88% had complete resolution of vaso-occlusive events 6 to 18 months after their infusion, including all 10 adolescent patients. Almost all patients (94%) achieved complete resolution of serious vaso-occlusive events. 

In the few patients who experienced posttreatment vaso-occlusive events, these individuals still achieved major reductions in hospital admissions and hospital days.

Among 20 patients followed for at least 3 years, more than half had clinically meaningful improvements in pain intensity, pain interference, and fatigue.

Most treatment-related adverse events occurred within 1 year of lovo-cel infusions and were primarily related to busulfan conditioning. No cases of veno-occlusive liver disease, graft failure, or graft vs host disease occurred, and patients did not have complications related to the viral vector. No patients who had a history of stroke prior to lovo-cel therapy experienced a post-therapy stroke. 

One patient died at baseline from significant cardiopulmonary disease related to sickle cell disease, but the death was considered unrelated to lovo-cel therapy.

To see a one-time treatment that essentially eradicates vaso-occlusive events is “really unparalleled,” said Steven Pipe, MD, from the University of Michigan School of Medicine in Ann Arbor, who presented data on a different study at the briefing.

However, Dr. Kanter noted, “it’s important to highlight that many of these individuals come into this therapy with significant disease and end-organ complications, and this will be something we will really need to follow long-term to understand how much this therapy can stabilize or reverse these complications.”

The studies were funded by bluebird bio. Dr. Kanter disclosed honoraria from the company and consulting/advising activities and receipt of research funding from multiple other entities. Dr. O’Brien disclosed consultancy for AstraZeneca, honoraria from Pharmacosmos, and research funding from Bristol Myers Squibb. Dr. Pipe disclosed consulting activities from multiple companies, not including bluebird bio. 

A version of this article appeared on Medscape.com.

Talk about bloodlines: In the Brodsky family, the field of hematology tied father to son. Now a grandson is heading into the “family business.” This extraordinary legacy ties the late Isadore Brodsky, a pioneering hematologist, to his son Robert A. Brodsky, current president of the American Society of Hematology (ASH), and grandson Max Brodsky, now a second-year hematology fellow.

In interviews, Robert and Max Brodsky spoke about the appeal of hematology and the threads that unite them with family members who came before. The elder Brodsky also talked about the work that’s made him the proudest during his year-long presidency at ASH.

166208_photo_web.JPG

Robert A. Brodsky is professor of medicine and director of hematology at Johns Hopkins University, Baltimore. He is stepping down as ASH president at its annual meeting in San Diego, December 9-12. Here are excerpts from our conversation:

Q: What drew your dad into medicine?

Dr. Robert A. Brodsky: He was going through his medical training at the University of Pennsylvania, then the Vietnam War came, and he served at the National Institutes of Health in what they referred to as the Yellow Berets. He got very interested in retroviruses and viruses that lead to cancer, which was a foreign idea at the time. This led him into hematology, stem cells, and myeloproliferative disorders.

He had a very successful career in hematology and just loved it. He performed the first bone marrow transplant in the tristate area of Pennsylvania, Delaware, and New Jersey.

Q: What did he like about hematology specifically?

Dr. Robert A. Brodsky: It’s a fascinating field, probably the most scientific area of medicine. It’s so easy to access blood and bone marrow. You can grow it, you can look at it, you can see it. It’s hard to do that with a lung, heart, kidney, or brain. Even back then, they could translate some of the science. What really drew him to hematology — and me, for that matter — was looking at a blood smear or bone marrow and being able to make a diagnosis. The other thing is the personal aspect. Hematologists tend to like the long-term relationships that they develop with their patients over the years.

Q: What were the biggest transformations in hematology during his career?

Dr. Robert A. Brodsky: Bone marrow transplant had the biggest impact, and it’s an area he really pioneered. He was very much involved in some of the early bone marrow transplants and was very close with Dr. George W. Santos, who was at Johns Hopkins and one of the big pioneers in that area as well. To be able to take marrow from related donors, get it to grow without the patient rejecting it, and cure a disease, was really huge. When he started doing this, patients had no other option. To see patients be cured was incredibly satisfying to him.

Q: How did you end up following your father into hematology?

Dr. Robert A. Brodsky: My brother Jeff, who’s a surgeon and older than me, knew he was going into medicine — probably about 3 hours after he was born. I came to it late. I was a political science major as an undergrad and really trying to figure out what I wanted to do. In my sophomore year, I decided I wanted to give this a shot. My dad worked very hard, long hours, but you could tell he loved what he did. And he was never absent, always involved in our lives and still made time for everyone. At some level, that must have had an influence on me.

Q: What has changed in hematology over your 30-plus years in medicine?

A: When I look back at when I was a fellow, it’s just mind-boggling how many lethal or life-threatening diseases are now pretty easy to treat. I studied disorders like aplastic anemia, which was very fatal. Without treatment, patients would die within a year. Now, over 95% are cured. Another classic examples is chronic myeloid leukemia disorder. Back when I was a fellow, the median survival for CML was maybe 4 to 6 years. Now, Kareem Abdul Jabbar has had this[for about 15 years]. Also a lot of hematologic malignancies are being cured with immunotherapy approaches. We’ve figured out the pathophysiology of a lot of diseases, and there are incredible genetic diagnostic assays.

Q: What was your father’s relationship with ASH?

Dr. Robert A. Brodsky: The first ASH meeting was 1958 in Atlantic City, New Jersey. There were 300 hematologists there, and my dad was one of them. We’re going to have over 30,000 people in San Diego, which is a record, and another 5,000 or 6,000 virtually.

Q: As ASH president, what are your biggest accomplishments when it comes to addressing the shortage of hematologists and other issues?

Dr. Robert A. Brodsky: ASH is investing $19 million to develop fellowships with a focus on hematology.* This is going to put lots of new hematologists into the workforce over the next 5 to 10 years. We’ve also been working on the Maintenance of Certification [MOC] process to make it less onerous on physicians. It’s really a bad process, and it’s not just ASH [that’s complaining], it’s all of medicine. We’re hearing this from GI, endocrine, renal and the general internists.

[In a September 2023 letter to the American Board of Internal Medicine’s president and chief officer, Dr. Brodsky wrote that “ASH continues to support the importance of lifelong learning for hematologists via a program that is evidence-based, relevant to one’s practice, and transparent; however, these three basic requirements are not met by the current ABIM MOC program.” ASH is calling for a new and reformed MOC program.]

Q: What convinced ASH to expand its journals by adding Blood Neoplasia and Blood Vessels, Thrombosis & Hemostasis?

Dr. Robert A. Brodsky: ASH has two flagship journals right now, Blood and Blood Advances, and they’re both very competitive, high-impact journals. It turns out there’s not enough room to publish all the new science, and they end up rejecting the majority of the submissions that come to them. We decided to keep these journals in the ASH family because there’s some fantastic clinical trials and science that would be going elsewhere.

Dr. Brodsky’s sons both have medical degrees: Brett Brodsky, DO, is a resident at Virginia Commonwealth University who plans to become a sports medicine specialist, and Max Brodsky, MD, is a second-year fellow in hematology at Johns Hopkins University.

In an interview, Max Brodsky, MD, talked about the roots of his family’s dedication to caring for others.

Q: What drew you to hematology?

Dr. Max Brodsky: I’ve watched both my dad and my grandfather be leaders in the field as both physicians and scientists, and that was very inspirational for me to see. And I went to a medical school [Drexel University College of Medicine] that my dad went to and where my grandfather was on faculty. That was like walking in their footsteps in a major way.

Q: What do you hope to focus on as a hematologist?

Dr. Max Brodsky: I’m still working through that, but I am really interested in thrombotic thrombocytopenic purpura. Patients used to not be able to survive their initial episodes, but now we have good treatments and are able to follow them as outpatients. With this whole cohort of patients that are surviving, we’re seeing that they have more health problems — more heart disease, more strokes and kidney disease. There’s a whole growing field exploring how to treat these patients for their lifespan.

Q: How do you deal with the reality that more of your patients will die than in some other medical fields?

Dr. Max Brodsky: It is challenging, but I also see those moments as opportunities to support patients and families. I’m good at connecting to patients and families who are in scary situations. I’ve always had that skill of putting people at ease, making people feel calm, knowing that they can trust me, and I have their best interests in mind.

Q: Why do you think your family is so committed to medicine?

Dr. Max Brodsky: We’re Jewish, and looking to help the world is one of the main core values of Judaism. The Torah expects us to make this world better.  Actually, my great-grandfather Max, whom I’m named after, used to dig tunnels to help people escape Ukraine and get to freedom. He was always looking to help others as well. My great-grandmother was shot crossing the border escaping from Ukraine, and he carried her the whole way to the boat. They lived in very poor West Philadelphia and poured everything into my grandfather. He became a great doctor, and his sons and his grandchildren are in medicine today.

*Correction, 12/11: A previous version of this story misstated the amount of ASH’s $19 million investment in developing fellowships with a focus on hematology.

Talk about bloodlines: In the Brodsky family, the field of hematology tied father to son. Now a grandson is heading into the “family business.” This extraordinary legacy ties the late Isadore Brodsky, a pioneering hematologist, to his son Robert A. Brodsky, current president of the American Society of Hematology (ASH), and grandson Max Brodsky, now a second-year hematology fellow.

In interviews, Robert and Max Brodsky spoke about the appeal of hematology and the threads that unite them with family members who came before. The elder Brodsky also talked about the work that’s made him the proudest during his year-long presidency at ASH.

166208_photo_web.JPG

Robert A. Brodsky is professor of medicine and director of hematology at Johns Hopkins University, Baltimore. He is stepping down as ASH president at its annual meeting in San Diego, December 9-12. Here are excerpts from our conversation:

Q: What drew your dad into medicine?

Dr. Robert A. Brodsky: He was going through his medical training at the University of Pennsylvania, then the Vietnam War came, and he served at the National Institutes of Health in what they referred to as the Yellow Berets. He got very interested in retroviruses and viruses that lead to cancer, which was a foreign idea at the time. This led him into hematology, stem cells, and myeloproliferative disorders.

He had a very successful career in hematology and just loved it. He performed the first bone marrow transplant in the tristate area of Pennsylvania, Delaware, and New Jersey.

Q: What did he like about hematology specifically?

Dr. Robert A. Brodsky: It’s a fascinating field, probably the most scientific area of medicine. It’s so easy to access blood and bone marrow. You can grow it, you can look at it, you can see it. It’s hard to do that with a lung, heart, kidney, or brain. Even back then, they could translate some of the science. What really drew him to hematology — and me, for that matter — was looking at a blood smear or bone marrow and being able to make a diagnosis. The other thing is the personal aspect. Hematologists tend to like the long-term relationships that they develop with their patients over the years.

Q: What were the biggest transformations in hematology during his career?

Dr. Robert A. Brodsky: Bone marrow transplant had the biggest impact, and it’s an area he really pioneered. He was very much involved in some of the early bone marrow transplants and was very close with Dr. George W. Santos, who was at Johns Hopkins and one of the big pioneers in that area as well. To be able to take marrow from related donors, get it to grow without the patient rejecting it, and cure a disease, was really huge. When he started doing this, patients had no other option. To see patients be cured was incredibly satisfying to him.

Q: How did you end up following your father into hematology?

Dr. Robert A. Brodsky: My brother Jeff, who’s a surgeon and older than me, knew he was going into medicine — probably about 3 hours after he was born. I came to it late. I was a political science major as an undergrad and really trying to figure out what I wanted to do. In my sophomore year, I decided I wanted to give this a shot. My dad worked very hard, long hours, but you could tell he loved what he did. And he was never absent, always involved in our lives and still made time for everyone. At some level, that must have had an influence on me.

Q: What has changed in hematology over your 30-plus years in medicine?

A: When I look back at when I was a fellow, it’s just mind-boggling how many lethal or life-threatening diseases are now pretty easy to treat. I studied disorders like aplastic anemia, which was very fatal. Without treatment, patients would die within a year. Now, over 95% are cured. Another classic examples is chronic myeloid leukemia disorder. Back when I was a fellow, the median survival for CML was maybe 4 to 6 years. Now, Kareem Abdul Jabbar has had this[for about 15 years]. Also a lot of hematologic malignancies are being cured with immunotherapy approaches. We’ve figured out the pathophysiology of a lot of diseases, and there are incredible genetic diagnostic assays.

Q: What was your father’s relationship with ASH?

Dr. Robert A. Brodsky: The first ASH meeting was 1958 in Atlantic City, New Jersey. There were 300 hematologists there, and my dad was one of them. We’re going to have over 30,000 people in San Diego, which is a record, and another 5,000 or 6,000 virtually.

Q: As ASH president, what are your biggest accomplishments when it comes to addressing the shortage of hematologists and other issues?

Dr. Robert A. Brodsky: ASH is investing $19 million to develop fellowships with a focus on hematology.* This is going to put lots of new hematologists into the workforce over the next 5 to 10 years. We’ve also been working on the Maintenance of Certification [MOC] process to make it less onerous on physicians. It’s really a bad process, and it’s not just ASH [that’s complaining], it’s all of medicine. We’re hearing this from GI, endocrine, renal and the general internists.

[In a September 2023 letter to the American Board of Internal Medicine’s president and chief officer, Dr. Brodsky wrote that “ASH continues to support the importance of lifelong learning for hematologists via a program that is evidence-based, relevant to one’s practice, and transparent; however, these three basic requirements are not met by the current ABIM MOC program.” ASH is calling for a new and reformed MOC program.]

Q: What convinced ASH to expand its journals by adding Blood Neoplasia and Blood Vessels, Thrombosis & Hemostasis?

Dr. Robert A. Brodsky: ASH has two flagship journals right now, Blood and Blood Advances, and they’re both very competitive, high-impact journals. It turns out there’s not enough room to publish all the new science, and they end up rejecting the majority of the submissions that come to them. We decided to keep these journals in the ASH family because there’s some fantastic clinical trials and science that would be going elsewhere.

Dr. Brodsky’s sons both have medical degrees: Brett Brodsky, DO, is a resident at Virginia Commonwealth University who plans to become a sports medicine specialist, and Max Brodsky, MD, is a second-year fellow in hematology at Johns Hopkins University.

In an interview, Max Brodsky, MD, talked about the roots of his family’s dedication to caring for others.

Q: What drew you to hematology?

Dr. Max Brodsky: I’ve watched both my dad and my grandfather be leaders in the field as both physicians and scientists, and that was very inspirational for me to see. And I went to a medical school [Drexel University College of Medicine] that my dad went to and where my grandfather was on faculty. That was like walking in their footsteps in a major way.

Q: What do you hope to focus on as a hematologist?

Dr. Max Brodsky: I’m still working through that, but I am really interested in thrombotic thrombocytopenic purpura. Patients used to not be able to survive their initial episodes, but now we have good treatments and are able to follow them as outpatients. With this whole cohort of patients that are surviving, we’re seeing that they have more health problems — more heart disease, more strokes and kidney disease. There’s a whole growing field exploring how to treat these patients for their lifespan.

Q: How do you deal with the reality that more of your patients will die than in some other medical fields?

Dr. Max Brodsky: It is challenging, but I also see those moments as opportunities to support patients and families. I’m good at connecting to patients and families who are in scary situations. I’ve always had that skill of putting people at ease, making people feel calm, knowing that they can trust me, and I have their best interests in mind.

Q: Why do you think your family is so committed to medicine?

Dr. Max Brodsky: We’re Jewish, and looking to help the world is one of the main core values of Judaism. The Torah expects us to make this world better.  Actually, my great-grandfather Max, whom I’m named after, used to dig tunnels to help people escape Ukraine and get to freedom. He was always looking to help others as well. My great-grandmother was shot crossing the border escaping from Ukraine, and he carried her the whole way to the boat. They lived in very poor West Philadelphia and poured everything into my grandfather. He became a great doctor, and his sons and his grandchildren are in medicine today.

*Correction, 12/11: A previous version of this story misstated the amount of ASH’s $19 million investment in developing fellowships with a focus on hematology.

Talk about bloodlines: In the Brodsky family, the field of hematology tied father to son. Now a grandson is heading into the “family business.” This extraordinary legacy ties the late Isadore Brodsky, a pioneering hematologist, to his son Robert A. Brodsky, current president of the American Society of Hematology (ASH), and grandson Max Brodsky, now a second-year hematology fellow.

In interviews, Robert and Max Brodsky spoke about the appeal of hematology and the threads that unite them with family members who came before. The elder Brodsky also talked about the work that’s made him the proudest during his year-long presidency at ASH.

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Robert A. Brodsky is professor of medicine and director of hematology at Johns Hopkins University, Baltimore. He is stepping down as ASH president at its annual meeting in San Diego, December 9-12. Here are excerpts from our conversation:

Q: What drew your dad into medicine?

Dr. Robert A. Brodsky: He was going through his medical training at the University of Pennsylvania, then the Vietnam War came, and he served at the National Institutes of Health in what they referred to as the Yellow Berets. He got very interested in retroviruses and viruses that lead to cancer, which was a foreign idea at the time. This led him into hematology, stem cells, and myeloproliferative disorders.

He had a very successful career in hematology and just loved it. He performed the first bone marrow transplant in the tristate area of Pennsylvania, Delaware, and New Jersey.

Q: What did he like about hematology specifically?

Dr. Robert A. Brodsky: It’s a fascinating field, probably the most scientific area of medicine. It’s so easy to access blood and bone marrow. You can grow it, you can look at it, you can see it. It’s hard to do that with a lung, heart, kidney, or brain. Even back then, they could translate some of the science. What really drew him to hematology — and me, for that matter — was looking at a blood smear or bone marrow and being able to make a diagnosis. The other thing is the personal aspect. Hematologists tend to like the long-term relationships that they develop with their patients over the years.

Q: What were the biggest transformations in hematology during his career?

Dr. Robert A. Brodsky: Bone marrow transplant had the biggest impact, and it’s an area he really pioneered. He was very much involved in some of the early bone marrow transplants and was very close with Dr. George W. Santos, who was at Johns Hopkins and one of the big pioneers in that area as well. To be able to take marrow from related donors, get it to grow without the patient rejecting it, and cure a disease, was really huge. When he started doing this, patients had no other option. To see patients be cured was incredibly satisfying to him.

Q: How did you end up following your father into hematology?

Dr. Robert A. Brodsky: My brother Jeff, who’s a surgeon and older than me, knew he was going into medicine — probably about 3 hours after he was born. I came to it late. I was a political science major as an undergrad and really trying to figure out what I wanted to do. In my sophomore year, I decided I wanted to give this a shot. My dad worked very hard, long hours, but you could tell he loved what he did. And he was never absent, always involved in our lives and still made time for everyone. At some level, that must have had an influence on me.

Q: What has changed in hematology over your 30-plus years in medicine?

A: When I look back at when I was a fellow, it’s just mind-boggling how many lethal or life-threatening diseases are now pretty easy to treat. I studied disorders like aplastic anemia, which was very fatal. Without treatment, patients would die within a year. Now, over 95% are cured. Another classic examples is chronic myeloid leukemia disorder. Back when I was a fellow, the median survival for CML was maybe 4 to 6 years. Now, Kareem Abdul Jabbar has had this[for about 15 years]. Also a lot of hematologic malignancies are being cured with immunotherapy approaches. We’ve figured out the pathophysiology of a lot of diseases, and there are incredible genetic diagnostic assays.

Q: What was your father’s relationship with ASH?

Dr. Robert A. Brodsky: The first ASH meeting was 1958 in Atlantic City, New Jersey. There were 300 hematologists there, and my dad was one of them. We’re going to have over 30,000 people in San Diego, which is a record, and another 5,000 or 6,000 virtually.

Q: As ASH president, what are your biggest accomplishments when it comes to addressing the shortage of hematologists and other issues?

Dr. Robert A. Brodsky: ASH is investing $19 million to develop fellowships with a focus on hematology.* This is going to put lots of new hematologists into the workforce over the next 5 to 10 years. We’ve also been working on the Maintenance of Certification [MOC] process to make it less onerous on physicians. It’s really a bad process, and it’s not just ASH [that’s complaining], it’s all of medicine. We’re hearing this from GI, endocrine, renal and the general internists.

[In a September 2023 letter to the American Board of Internal Medicine’s president and chief officer, Dr. Brodsky wrote that “ASH continues to support the importance of lifelong learning for hematologists via a program that is evidence-based, relevant to one’s practice, and transparent; however, these three basic requirements are not met by the current ABIM MOC program.” ASH is calling for a new and reformed MOC program.]

Q: What convinced ASH to expand its journals by adding Blood Neoplasia and Blood Vessels, Thrombosis & Hemostasis?

Dr. Robert A. Brodsky: ASH has two flagship journals right now, Blood and Blood Advances, and they’re both very competitive, high-impact journals. It turns out there’s not enough room to publish all the new science, and they end up rejecting the majority of the submissions that come to them. We decided to keep these journals in the ASH family because there’s some fantastic clinical trials and science that would be going elsewhere.

Dr. Brodsky’s sons both have medical degrees: Brett Brodsky, DO, is a resident at Virginia Commonwealth University who plans to become a sports medicine specialist, and Max Brodsky, MD, is a second-year fellow in hematology at Johns Hopkins University.

In an interview, Max Brodsky, MD, talked about the roots of his family’s dedication to caring for others.

Q: What drew you to hematology?

Dr. Max Brodsky: I’ve watched both my dad and my grandfather be leaders in the field as both physicians and scientists, and that was very inspirational for me to see. And I went to a medical school [Drexel University College of Medicine] that my dad went to and where my grandfather was on faculty. That was like walking in their footsteps in a major way.

Q: What do you hope to focus on as a hematologist?

Dr. Max Brodsky: I’m still working through that, but I am really interested in thrombotic thrombocytopenic purpura. Patients used to not be able to survive their initial episodes, but now we have good treatments and are able to follow them as outpatients. With this whole cohort of patients that are surviving, we’re seeing that they have more health problems — more heart disease, more strokes and kidney disease. There’s a whole growing field exploring how to treat these patients for their lifespan.

Q: How do you deal with the reality that more of your patients will die than in some other medical fields?

Dr. Max Brodsky: It is challenging, but I also see those moments as opportunities to support patients and families. I’m good at connecting to patients and families who are in scary situations. I’ve always had that skill of putting people at ease, making people feel calm, knowing that they can trust me, and I have their best interests in mind.

Q: Why do you think your family is so committed to medicine?

Dr. Max Brodsky: We’re Jewish, and looking to help the world is one of the main core values of Judaism. The Torah expects us to make this world better.  Actually, my great-grandfather Max, whom I’m named after, used to dig tunnels to help people escape Ukraine and get to freedom. He was always looking to help others as well. My great-grandmother was shot crossing the border escaping from Ukraine, and he carried her the whole way to the boat. They lived in very poor West Philadelphia and poured everything into my grandfather. He became a great doctor, and his sons and his grandchildren are in medicine today.

*Correction, 12/11: A previous version of this story misstated the amount of ASH’s $19 million investment in developing fellowships with a focus on hematology.

Jerome J. Federspiel, MD, often cares for patients who are about to deliver a baby but who have untreated iron deficiency anemia (IDA). Often, these patients require a blood transfusion after giving birth.

“I am sad to hear commonly from patients we treat that they have had iron-deficient anemia symptoms for many years. Correcting these conditions makes birth safer and, oftentimes, makes people feel much better – sometimes better than they have in years,” Dr. Federspiel, maternal-fetal medicine physician and assistant professor of obstetrics and gynecology and population health sciences at Duke University, Durham, N.C., said.

Even patients he is able to diagnose earlier “will have difficulties catching up during pregnancy.”

The condition is the most common type of anemia among people who are pregnant. IDA increases a patient’s risk of delivering preterm and developing postpartum depression and puts their infants at a risk for perinatal mortality. Without proper treatment of IDA throughout pregnancy, the condition can also lead to low birth weights in infants or failing to meet weight goals later on.

But of all women with a new diagnosis of IDA from 2021 to 2022, 10% were pregnant, according to an analysis by Komodo Health, a health care analytics company.

While estimates of the prevalence of IDA vary, research from 2021 found 6.5% of nearly 1,500 patients who were pregnant during the first trimester had the condition, a figure the researchers said might underrepresent the problem.

“In severe cases [fetal outcomes can include] abnormal fetal oxygenation, nonreassuring fetal heart rate patterns, reduced amniotic fluid volume, fetal cerebral vasodilation, and fetal death,” Alianne S. Tilley, NP, family nurse practitioner at Women’s Care of Lake Cumberland, Somerset, Ky., said.

Research has shown that adequate levels of iron are an integral component in the development of the fetal brain. Some studies have reported that IDA during pregnancy increases an infant’s risk for poor neurodevelopmental outcomes.
 

Lack of screening protocol

Discrepancies in guidance for testing patients who are pregnant for IDA may add to late diagnosis and low treatment, according to Katelin Zahn, MD, assistant professor of general obstetrics, gynecology, and midwifery at University of North Carolina at Chapel Hill.

“There’s no consistency, which leads to a lot of variation in individual practice, which creates variation in outcomes, too,” Dr. Zahn said. “You can only do so much as one independent physician, and you need to be able to create change in a system that functions and provides standard of care even when you aren’t there.”

The American College of Obstetricians and Gynecologists recommends screening all patients who are pregnant with a complete blood count in the first trimester and again between 24 and 27 weeks of gestation.

Patients who meet criteria for IDA based on hematocrit levels less than 33% in the first and third trimesters, and less than 32% in the second trimester, should be evaluated to determine the cause. Those with IDA should be treated with supplemental iron, in addition to prenatal vitamins, ACOG says.

But the U.S. Preventive Services Task Force in 2015 found insufficient evidence to recommend for or against screening patients without symptoms or signs of the condition. The organization is in the process of updating the recommendation.
 

Prevention as best practice

The most effective way to address IDA in patients who are pregnant is prevention, according to Dr. Federspiel.

“Having a systematic approach to screening and treatment is really important, and this starts before pregnancy,” Dr. Federspiel said. “On average, a typical pregnancy requires an additional 1 g of iron.”

Dr. Federspiel recommends clinicians discuss the causes and the effects of IDA with patients who are planning to or could become pregnant. Clinicians might recommend iron- and folate-rich foods and vitamins B12 and C and ask patients if they face any barriers to access.

“Prenatal vitamins with iron are the gold standard in preventing IDA in the pregnant population,” Ms. Tilley said. “Education on the significant risk factors associated with IDA in early pregnancy is key.”

A version of this article first appeared on Medscape.com.

Jerome J. Federspiel, MD, often cares for patients who are about to deliver a baby but who have untreated iron deficiency anemia (IDA). Often, these patients require a blood transfusion after giving birth.

“I am sad to hear commonly from patients we treat that they have had iron-deficient anemia symptoms for many years. Correcting these conditions makes birth safer and, oftentimes, makes people feel much better – sometimes better than they have in years,” Dr. Federspiel, maternal-fetal medicine physician and assistant professor of obstetrics and gynecology and population health sciences at Duke University, Durham, N.C., said.

Even patients he is able to diagnose earlier “will have difficulties catching up during pregnancy.”

The condition is the most common type of anemia among people who are pregnant. IDA increases a patient’s risk of delivering preterm and developing postpartum depression and puts their infants at a risk for perinatal mortality. Without proper treatment of IDA throughout pregnancy, the condition can also lead to low birth weights in infants or failing to meet weight goals later on.

But of all women with a new diagnosis of IDA from 2021 to 2022, 10% were pregnant, according to an analysis by Komodo Health, a health care analytics company.

While estimates of the prevalence of IDA vary, research from 2021 found 6.5% of nearly 1,500 patients who were pregnant during the first trimester had the condition, a figure the researchers said might underrepresent the problem.

“In severe cases [fetal outcomes can include] abnormal fetal oxygenation, nonreassuring fetal heart rate patterns, reduced amniotic fluid volume, fetal cerebral vasodilation, and fetal death,” Alianne S. Tilley, NP, family nurse practitioner at Women’s Care of Lake Cumberland, Somerset, Ky., said.

Research has shown that adequate levels of iron are an integral component in the development of the fetal brain. Some studies have reported that IDA during pregnancy increases an infant’s risk for poor neurodevelopmental outcomes.
 

Lack of screening protocol

Discrepancies in guidance for testing patients who are pregnant for IDA may add to late diagnosis and low treatment, according to Katelin Zahn, MD, assistant professor of general obstetrics, gynecology, and midwifery at University of North Carolina at Chapel Hill.

“There’s no consistency, which leads to a lot of variation in individual practice, which creates variation in outcomes, too,” Dr. Zahn said. “You can only do so much as one independent physician, and you need to be able to create change in a system that functions and provides standard of care even when you aren’t there.”

The American College of Obstetricians and Gynecologists recommends screening all patients who are pregnant with a complete blood count in the first trimester and again between 24 and 27 weeks of gestation.

Patients who meet criteria for IDA based on hematocrit levels less than 33% in the first and third trimesters, and less than 32% in the second trimester, should be evaluated to determine the cause. Those with IDA should be treated with supplemental iron, in addition to prenatal vitamins, ACOG says.

But the U.S. Preventive Services Task Force in 2015 found insufficient evidence to recommend for or against screening patients without symptoms or signs of the condition. The organization is in the process of updating the recommendation.
 

Prevention as best practice

The most effective way to address IDA in patients who are pregnant is prevention, according to Dr. Federspiel.

“Having a systematic approach to screening and treatment is really important, and this starts before pregnancy,” Dr. Federspiel said. “On average, a typical pregnancy requires an additional 1 g of iron.”

Dr. Federspiel recommends clinicians discuss the causes and the effects of IDA with patients who are planning to or could become pregnant. Clinicians might recommend iron- and folate-rich foods and vitamins B12 and C and ask patients if they face any barriers to access.

“Prenatal vitamins with iron are the gold standard in preventing IDA in the pregnant population,” Ms. Tilley said. “Education on the significant risk factors associated with IDA in early pregnancy is key.”

A version of this article first appeared on Medscape.com.

Jerome J. Federspiel, MD, often cares for patients who are about to deliver a baby but who have untreated iron deficiency anemia (IDA). Often, these patients require a blood transfusion after giving birth.

“I am sad to hear commonly from patients we treat that they have had iron-deficient anemia symptoms for many years. Correcting these conditions makes birth safer and, oftentimes, makes people feel much better – sometimes better than they have in years,” Dr. Federspiel, maternal-fetal medicine physician and assistant professor of obstetrics and gynecology and population health sciences at Duke University, Durham, N.C., said.

Even patients he is able to diagnose earlier “will have difficulties catching up during pregnancy.”

The condition is the most common type of anemia among people who are pregnant. IDA increases a patient’s risk of delivering preterm and developing postpartum depression and puts their infants at a risk for perinatal mortality. Without proper treatment of IDA throughout pregnancy, the condition can also lead to low birth weights in infants or failing to meet weight goals later on.

But of all women with a new diagnosis of IDA from 2021 to 2022, 10% were pregnant, according to an analysis by Komodo Health, a health care analytics company.

While estimates of the prevalence of IDA vary, research from 2021 found 6.5% of nearly 1,500 patients who were pregnant during the first trimester had the condition, a figure the researchers said might underrepresent the problem.

“In severe cases [fetal outcomes can include] abnormal fetal oxygenation, nonreassuring fetal heart rate patterns, reduced amniotic fluid volume, fetal cerebral vasodilation, and fetal death,” Alianne S. Tilley, NP, family nurse practitioner at Women’s Care of Lake Cumberland, Somerset, Ky., said.

Research has shown that adequate levels of iron are an integral component in the development of the fetal brain. Some studies have reported that IDA during pregnancy increases an infant’s risk for poor neurodevelopmental outcomes.
 

Lack of screening protocol

Discrepancies in guidance for testing patients who are pregnant for IDA may add to late diagnosis and low treatment, according to Katelin Zahn, MD, assistant professor of general obstetrics, gynecology, and midwifery at University of North Carolina at Chapel Hill.

“There’s no consistency, which leads to a lot of variation in individual practice, which creates variation in outcomes, too,” Dr. Zahn said. “You can only do so much as one independent physician, and you need to be able to create change in a system that functions and provides standard of care even when you aren’t there.”

The American College of Obstetricians and Gynecologists recommends screening all patients who are pregnant with a complete blood count in the first trimester and again between 24 and 27 weeks of gestation.

Patients who meet criteria for IDA based on hematocrit levels less than 33% in the first and third trimesters, and less than 32% in the second trimester, should be evaluated to determine the cause. Those with IDA should be treated with supplemental iron, in addition to prenatal vitamins, ACOG says.

But the U.S. Preventive Services Task Force in 2015 found insufficient evidence to recommend for or against screening patients without symptoms or signs of the condition. The organization is in the process of updating the recommendation.
 

Prevention as best practice

The most effective way to address IDA in patients who are pregnant is prevention, according to Dr. Federspiel.

“Having a systematic approach to screening and treatment is really important, and this starts before pregnancy,” Dr. Federspiel said. “On average, a typical pregnancy requires an additional 1 g of iron.”

Dr. Federspiel recommends clinicians discuss the causes and the effects of IDA with patients who are planning to or could become pregnant. Clinicians might recommend iron- and folate-rich foods and vitamins B12 and C and ask patients if they face any barriers to access.

“Prenatal vitamins with iron are the gold standard in preventing IDA in the pregnant population,” Ms. Tilley said. “Education on the significant risk factors associated with IDA in early pregnancy is key.”

A version of this article first appeared on Medscape.com.

A 49-year-old woman, previously recuperating from COVID-19, was found unconscious at her workplace, setting off a chain of events that would ultimately lead to an unexpected diagnosis.

This case report was published in the New England Journal of Medicine.

Noting the patient’s confusion and aphasia, emergency medical services were alerted, and she was taken to the emergency department of Massachusetts General Hospital. Initial examination revealed aphasia and coordination difficulties. However, imaging studies, including CT angiography, showed no signs of stroke or other neurological abnormalities.

The patient’s coworkers had observed that she appeared “unwell.” Her medical history included hypertension, which was managed with amlodipine, and there was no known family history of neurologic disorders.

During the examination, her vital signs were within normal ranges.

The patient’s potassium level of 2.5 mmol/L was noteworthy, indicating hypokalemia. Additionally, the patient presented with anemia and thrombocytopenia. Additional laboratory results unveiled thrombotic thrombocytopenic purpura (TTP), a rare blood disorder characterized by microangiopathic hemolytic anemia. The microscopic examination of a peripheral blood smear confirmed the extent of thrombocytopenia and was particularly notable for the increased number of schistocytes. The patient’s peripheral blood smear revealed five or six schistocytes per high-power field, constituting approximately 5% of the red cells. This significant number of schistocytes aligned with the severity of anemia and thrombocytopenia, confirming the diagnosis of microangiopathic hemolytic anemia.

Acquired TTP is an autoimmune condition driven by antibody-mediated clearance of the plasma enzyme ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin motif 13). Confirmatory laboratory testing for ADAMTS13 takes 1-3 days; therefore, therapeutic plasma exchange with glucocorticoid therapy and rituximab was initiated, which promptly improved her condition.

In this patient, the ADAMTS13 activity level was severely reduced (< 5%; reference value > 67%), and the inhibitor was present (1.4 inhibitor units; reference value ≤ 0.4).

Rectal cancer was diagnosed in this patient 2 months after the diagnosis of acquired TTP.

After undergoing four weekly infusions of rituximab and a 2-month tapering course of glucocorticoids, the patient experienced a relapse, approximately 6 months following the acquired TTP diagnosis. In response, therapeutic plasma exchange and glucocorticoid therapy were administered. There is a possibility that the underlying cancer played a role in the relapse. To minimize the risk for recurrence, the patient also received a second round of rituximab.

While establishing a clear cause is difficult, acquired TTP often appears to arise in connection with either an immune trigger, such as a viral infection, or immune dysregulation associated with another autoimmune disease or ongoing cancer. In this case, 4 weeks before the acquired TTP diagnosis, the patient had experienced COVID-19, which was likely to be the most probable trigger. However, rectal cancer was also identified in the patient, and whether these conditions are directly linked remains unclear.

A version of this article first appeared on Medscape.com.

A 49-year-old woman, previously recuperating from COVID-19, was found unconscious at her workplace, setting off a chain of events that would ultimately lead to an unexpected diagnosis.

This case report was published in the New England Journal of Medicine.

Noting the patient’s confusion and aphasia, emergency medical services were alerted, and she was taken to the emergency department of Massachusetts General Hospital. Initial examination revealed aphasia and coordination difficulties. However, imaging studies, including CT angiography, showed no signs of stroke or other neurological abnormalities.

The patient’s coworkers had observed that she appeared “unwell.” Her medical history included hypertension, which was managed with amlodipine, and there was no known family history of neurologic disorders.

During the examination, her vital signs were within normal ranges.

The patient’s potassium level of 2.5 mmol/L was noteworthy, indicating hypokalemia. Additionally, the patient presented with anemia and thrombocytopenia. Additional laboratory results unveiled thrombotic thrombocytopenic purpura (TTP), a rare blood disorder characterized by microangiopathic hemolytic anemia. The microscopic examination of a peripheral blood smear confirmed the extent of thrombocytopenia and was particularly notable for the increased number of schistocytes. The patient’s peripheral blood smear revealed five or six schistocytes per high-power field, constituting approximately 5% of the red cells. This significant number of schistocytes aligned with the severity of anemia and thrombocytopenia, confirming the diagnosis of microangiopathic hemolytic anemia.

Acquired TTP is an autoimmune condition driven by antibody-mediated clearance of the plasma enzyme ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin motif 13). Confirmatory laboratory testing for ADAMTS13 takes 1-3 days; therefore, therapeutic plasma exchange with glucocorticoid therapy and rituximab was initiated, which promptly improved her condition.

In this patient, the ADAMTS13 activity level was severely reduced (< 5%; reference value > 67%), and the inhibitor was present (1.4 inhibitor units; reference value ≤ 0.4).

Rectal cancer was diagnosed in this patient 2 months after the diagnosis of acquired TTP.

After undergoing four weekly infusions of rituximab and a 2-month tapering course of glucocorticoids, the patient experienced a relapse, approximately 6 months following the acquired TTP diagnosis. In response, therapeutic plasma exchange and glucocorticoid therapy were administered. There is a possibility that the underlying cancer played a role in the relapse. To minimize the risk for recurrence, the patient also received a second round of rituximab.

While establishing a clear cause is difficult, acquired TTP often appears to arise in connection with either an immune trigger, such as a viral infection, or immune dysregulation associated with another autoimmune disease or ongoing cancer. In this case, 4 weeks before the acquired TTP diagnosis, the patient had experienced COVID-19, which was likely to be the most probable trigger. However, rectal cancer was also identified in the patient, and whether these conditions are directly linked remains unclear.

A version of this article first appeared on Medscape.com.

A 49-year-old woman, previously recuperating from COVID-19, was found unconscious at her workplace, setting off a chain of events that would ultimately lead to an unexpected diagnosis.

This case report was published in the New England Journal of Medicine.

Noting the patient’s confusion and aphasia, emergency medical services were alerted, and she was taken to the emergency department of Massachusetts General Hospital. Initial examination revealed aphasia and coordination difficulties. However, imaging studies, including CT angiography, showed no signs of stroke or other neurological abnormalities.

The patient’s coworkers had observed that she appeared “unwell.” Her medical history included hypertension, which was managed with amlodipine, and there was no known family history of neurologic disorders.

During the examination, her vital signs were within normal ranges.

The patient’s potassium level of 2.5 mmol/L was noteworthy, indicating hypokalemia. Additionally, the patient presented with anemia and thrombocytopenia. Additional laboratory results unveiled thrombotic thrombocytopenic purpura (TTP), a rare blood disorder characterized by microangiopathic hemolytic anemia. The microscopic examination of a peripheral blood smear confirmed the extent of thrombocytopenia and was particularly notable for the increased number of schistocytes. The patient’s peripheral blood smear revealed five or six schistocytes per high-power field, constituting approximately 5% of the red cells. This significant number of schistocytes aligned with the severity of anemia and thrombocytopenia, confirming the diagnosis of microangiopathic hemolytic anemia.

Acquired TTP is an autoimmune condition driven by antibody-mediated clearance of the plasma enzyme ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin motif 13). Confirmatory laboratory testing for ADAMTS13 takes 1-3 days; therefore, therapeutic plasma exchange with glucocorticoid therapy and rituximab was initiated, which promptly improved her condition.

In this patient, the ADAMTS13 activity level was severely reduced (< 5%; reference value > 67%), and the inhibitor was present (1.4 inhibitor units; reference value ≤ 0.4).

Rectal cancer was diagnosed in this patient 2 months after the diagnosis of acquired TTP.

After undergoing four weekly infusions of rituximab and a 2-month tapering course of glucocorticoids, the patient experienced a relapse, approximately 6 months following the acquired TTP diagnosis. In response, therapeutic plasma exchange and glucocorticoid therapy were administered. There is a possibility that the underlying cancer played a role in the relapse. To minimize the risk for recurrence, the patient also received a second round of rituximab.

While establishing a clear cause is difficult, acquired TTP often appears to arise in connection with either an immune trigger, such as a viral infection, or immune dysregulation associated with another autoimmune disease or ongoing cancer. In this case, 4 weeks before the acquired TTP diagnosis, the patient had experienced COVID-19, which was likely to be the most probable trigger. However, rectal cancer was also identified in the patient, and whether these conditions are directly linked remains unclear.

A version of this article first appeared on Medscape.com.

Clinicians must monitor children with sickle cell disease for eye complications as much as they do for adults, a new research review suggests.

Earlier research indicated that older patients were more at risk for eye complications from sickle cell disease, but the new study found that a full third of young people aged 10-25 years with sickle cell disease had retinopathy, including nonproliferative retinopathy (33%) and proliferative retinopathy (6%), which can progress to vision loss.

Two patients experienced retinal detachment, while two suffered retinal artery occlusion. One patient with retinal artery occlusion lost their vision and had a final best-corrected visual acuity of 20/60, according to the researchers, who presented their findings at the annual meeting of the American Academy of Ophthalmology.

“Our data underscores the need for patients – including pediatric patients – with sickle cell disease to get routine ophthalmic screenings along with appropriate systemic and ophthalmic treatment,” Mary Ellen Hoehn, MD, a professor of ophthalmology at the University of Tennessee Health Science Center, Memphis, who led the research, said in a press release.

The review covered records for 652 patients with sickle cell disease aged 10-25 years (median age, 14 years), who underwent eye exams over a 12-year period.

Besides looking at rates of retinopathy, Dr. Hoehn’s group studied which treatments were most effective. They found that hydroxyurea and chronic transfusions best lowered retinopathy rates among all genotypes.

“We hope that people will use this information to better care for patients with sickle cell disease, and that more timely ophthalmic screen exams will be performed so that vision-threatening complications from this disease are prevented,” Dr. Hoehn said.

The authors reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Clinicians must monitor children with sickle cell disease for eye complications as much as they do for adults, a new research review suggests.

Earlier research indicated that older patients were more at risk for eye complications from sickle cell disease, but the new study found that a full third of young people aged 10-25 years with sickle cell disease had retinopathy, including nonproliferative retinopathy (33%) and proliferative retinopathy (6%), which can progress to vision loss.

Two patients experienced retinal detachment, while two suffered retinal artery occlusion. One patient with retinal artery occlusion lost their vision and had a final best-corrected visual acuity of 20/60, according to the researchers, who presented their findings at the annual meeting of the American Academy of Ophthalmology.

“Our data underscores the need for patients – including pediatric patients – with sickle cell disease to get routine ophthalmic screenings along with appropriate systemic and ophthalmic treatment,” Mary Ellen Hoehn, MD, a professor of ophthalmology at the University of Tennessee Health Science Center, Memphis, who led the research, said in a press release.

The review covered records for 652 patients with sickle cell disease aged 10-25 years (median age, 14 years), who underwent eye exams over a 12-year period.

Besides looking at rates of retinopathy, Dr. Hoehn’s group studied which treatments were most effective. They found that hydroxyurea and chronic transfusions best lowered retinopathy rates among all genotypes.

“We hope that people will use this information to better care for patients with sickle cell disease, and that more timely ophthalmic screen exams will be performed so that vision-threatening complications from this disease are prevented,” Dr. Hoehn said.

The authors reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Clinicians must monitor children with sickle cell disease for eye complications as much as they do for adults, a new research review suggests.

Earlier research indicated that older patients were more at risk for eye complications from sickle cell disease, but the new study found that a full third of young people aged 10-25 years with sickle cell disease had retinopathy, including nonproliferative retinopathy (33%) and proliferative retinopathy (6%), which can progress to vision loss.

Two patients experienced retinal detachment, while two suffered retinal artery occlusion. One patient with retinal artery occlusion lost their vision and had a final best-corrected visual acuity of 20/60, according to the researchers, who presented their findings at the annual meeting of the American Academy of Ophthalmology.

“Our data underscores the need for patients – including pediatric patients – with sickle cell disease to get routine ophthalmic screenings along with appropriate systemic and ophthalmic treatment,” Mary Ellen Hoehn, MD, a professor of ophthalmology at the University of Tennessee Health Science Center, Memphis, who led the research, said in a press release.

The review covered records for 652 patients with sickle cell disease aged 10-25 years (median age, 14 years), who underwent eye exams over a 12-year period.

Besides looking at rates of retinopathy, Dr. Hoehn’s group studied which treatments were most effective. They found that hydroxyurea and chronic transfusions best lowered retinopathy rates among all genotypes.

“We hope that people will use this information to better care for patients with sickle cell disease, and that more timely ophthalmic screen exams will be performed so that vision-threatening complications from this disease are prevented,” Dr. Hoehn said.

The authors reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Despite recent strides in the management and treatment of sickle cell disease (SCD), persistent misconceptions and ongoing issues – such as low utilization of important new therapies – reveal a pressing need to better inform both clinicians and patients about this condition.

Affecting more than 20 million people globally and 100,000 people nationwide, SCD is the most common inherited blood disorder in the United States. It occurs largely but not exclusively among people of African descent.

Patients with SCD develop crescent-shaped or “sickled” red blood cells that, unlike normally round cells, can potentially block blood flow and thus cause a host of problems ranging from a risk of stroke or infections to sometimes severe pain crises, called vaso-occlusive episodes.

To help ward off such complications, some key preventative measures and an array of therapies have become available in recent years: Newborn screening and prophylaxis, including the introduction of pneumococcal vaccines, have substantially reduced rates of invasive pneumococcal infection, which previously accounted for 32% of all causes of death in patients with SCD under the age of 20.

And while hydroxyurea was the only medication from 1998 to 2017 to alleviate acute pain episodes in SCD, newer options have become available in recent years, with l-glutamine, voxelotor, and crizanlizumab gaining FDA approval to further help prevent the episodes.

However, studies show that many if not most patients fail to receive adequate treatment, with one recent report indicating that, between 2016 and 2020, hydroxyurea was prescribed to fewer than 25% of patients with SCD, and fewer than 4% of people with the disease who experience chronic pain episodes had prescriptions for the newer FDA-approved drugs.
 

Myths and truths

To help clarify some common misconceptions that contribute to the problems, Lewis Hsu, MD, PhD, chief medical officer of the Sickle Cell Disease Association of America, detailed some of the most prevalent and persistent myths among clinicians about SCD:

Lewis Hsu.jpg

Pain level

Myths: Firstly, that sickle cell pain is not that bad, and patients therefore don’t really need opioid pain treatment, and secondly, that sickle cell pain is measurable by lab tests, such as the number of sickled red blood cells on a blood smear, reticulocytes, or hemoglobin level.

Truths: “Sickle cell vaso-occlusive pain can be very severe – a 10 on a scale of 10 – but the pain is usually only known by subjective report,” said Dr. Hsu, a pediatric hematologist who serves as director of the Sickle Cell Center and professor of pediatrics for the University of Illinois at Chicago.

“No lab test can be used to measure pain,” he said. “Other lab tests can be abnormal, and some have statistical correlation with lifetime severity of disease course, but the lab tests are not for determination of acute level of pain or absence of pain.”

Blacks only

Myth: SCD only affects Black people.

Truth: People who have sickle cell disease from many ethnic backgrounds and skin colors.

“Around the Mediterranean, there are sickle cell patients from Greece, Turkey, Italy, and Spain. Some are blond and blue-eyed. People in India and Pakistan have sickle cell disease,” Dr. Hsu explained.

In addition, “people from the Arabian Peninsula have sickle cell disease; some Malaysians have sickle cell disease; one child who is about third generation in Hong Kong has sickle cell disease.”

Parental link

Myth: Sickle cell disease only occurs in individuals both of whose parents have the sickle gene.

Truth: “There are types of sickle cell disease [involving] a sickle cell gene from one parent and a gene for hemoglobin C from the other parent,” Dr. Hsu noted. “Others inherited one sickle gene [from one parent] and inherited from the other parent a gene for beta thalassemia. Others involve an inherited sickle gene and hemoglobin E; others have inherited one sickle gene and inherited a gene for hemoglobin D-Punjab, while others have sickle and hemoglobin O-Arab.”

Effects beyond pain

Myth: A person who is not having sickle cell pain is otherwise not significantly affected by their disease.

Truth: “Organs can be damaged silently every day,” Dr. Hsu said. “Kidney failure, retina damage, and pulmonary hypertension are the most notable of organ systems that can suffer damage for a long time without symptoms, then develop symptoms when it is too late to intervene.”

“For this reason, individuals with sickle cell disease should have regular expert care for health maintenance that is disease specific,” Dr. Hsu added.
 

Consult guidelines

One final concern is a basic failure to utilize critical information sources and guidelines, especially by primary care providers and/or other nonspecialists from whom patients with SCD may often seek treatment. “Awareness of these guidelines is low,” Dr. Hsu said.

Key resources that can be helpful include evidence-based guidelines developed by an expert panel of the National Heart, Lung, and Blood Institute, and the American Society of Hematology has a Pocket Guide app on management of sickle cell disease.

Another key resource being highlighted in September, which is National Sickle Cell Disease Awareness Month, is the NHLBI’s comprehensive website, providing information ranging from fact sheets on the disease and treatments to social media resources and inspiring stories of people with SCD.

“We are trying to bring more sickle cell information and case studies into medical school curricula, nursing curricula, social workers and community health workers awareness, [and] apps and online guidelines are proliferating,” Dr. Hsu says.

He goes on to say, “We need more recognition and resources from insurance providers that quality care for sickle cell disease is measured and rewarded.”

Dr. Hsu coauthored “Hope and Destiny: The Patient and Parent’s Guide to Sickle Cell Disease and Sickle Cell Trait.” He reported relationships with Novartis, Emmaus, Forma Therapeutic, Dupont/Nemours Children’s Hospital, Hilton Publishing, Asklepion, Bayer, CRISPR/Vertex, Cyclerion, Pfizer, and Aruvant.
 

Despite recent strides in the management and treatment of sickle cell disease (SCD), persistent misconceptions and ongoing issues – such as low utilization of important new therapies – reveal a pressing need to better inform both clinicians and patients about this condition.

Affecting more than 20 million people globally and 100,000 people nationwide, SCD is the most common inherited blood disorder in the United States. It occurs largely but not exclusively among people of African descent.

Patients with SCD develop crescent-shaped or “sickled” red blood cells that, unlike normally round cells, can potentially block blood flow and thus cause a host of problems ranging from a risk of stroke or infections to sometimes severe pain crises, called vaso-occlusive episodes.

To help ward off such complications, some key preventative measures and an array of therapies have become available in recent years: Newborn screening and prophylaxis, including the introduction of pneumococcal vaccines, have substantially reduced rates of invasive pneumococcal infection, which previously accounted for 32% of all causes of death in patients with SCD under the age of 20.

And while hydroxyurea was the only medication from 1998 to 2017 to alleviate acute pain episodes in SCD, newer options have become available in recent years, with l-glutamine, voxelotor, and crizanlizumab gaining FDA approval to further help prevent the episodes.

However, studies show that many if not most patients fail to receive adequate treatment, with one recent report indicating that, between 2016 and 2020, hydroxyurea was prescribed to fewer than 25% of patients with SCD, and fewer than 4% of people with the disease who experience chronic pain episodes had prescriptions for the newer FDA-approved drugs.
 

Myths and truths

To help clarify some common misconceptions that contribute to the problems, Lewis Hsu, MD, PhD, chief medical officer of the Sickle Cell Disease Association of America, detailed some of the most prevalent and persistent myths among clinicians about SCD:

Lewis Hsu.jpg

Pain level

Myths: Firstly, that sickle cell pain is not that bad, and patients therefore don’t really need opioid pain treatment, and secondly, that sickle cell pain is measurable by lab tests, such as the number of sickled red blood cells on a blood smear, reticulocytes, or hemoglobin level.

Truths: “Sickle cell vaso-occlusive pain can be very severe – a 10 on a scale of 10 – but the pain is usually only known by subjective report,” said Dr. Hsu, a pediatric hematologist who serves as director of the Sickle Cell Center and professor of pediatrics for the University of Illinois at Chicago.

“No lab test can be used to measure pain,” he said. “Other lab tests can be abnormal, and some have statistical correlation with lifetime severity of disease course, but the lab tests are not for determination of acute level of pain or absence of pain.”

Blacks only

Myth: SCD only affects Black people.

Truth: People who have sickle cell disease from many ethnic backgrounds and skin colors.

“Around the Mediterranean, there are sickle cell patients from Greece, Turkey, Italy, and Spain. Some are blond and blue-eyed. People in India and Pakistan have sickle cell disease,” Dr. Hsu explained.

In addition, “people from the Arabian Peninsula have sickle cell disease; some Malaysians have sickle cell disease; one child who is about third generation in Hong Kong has sickle cell disease.”

Parental link

Myth: Sickle cell disease only occurs in individuals both of whose parents have the sickle gene.

Truth: “There are types of sickle cell disease [involving] a sickle cell gene from one parent and a gene for hemoglobin C from the other parent,” Dr. Hsu noted. “Others inherited one sickle gene [from one parent] and inherited from the other parent a gene for beta thalassemia. Others involve an inherited sickle gene and hemoglobin E; others have inherited one sickle gene and inherited a gene for hemoglobin D-Punjab, while others have sickle and hemoglobin O-Arab.”

Effects beyond pain

Myth: A person who is not having sickle cell pain is otherwise not significantly affected by their disease.

Truth: “Organs can be damaged silently every day,” Dr. Hsu said. “Kidney failure, retina damage, and pulmonary hypertension are the most notable of organ systems that can suffer damage for a long time without symptoms, then develop symptoms when it is too late to intervene.”

“For this reason, individuals with sickle cell disease should have regular expert care for health maintenance that is disease specific,” Dr. Hsu added.
 

Consult guidelines

One final concern is a basic failure to utilize critical information sources and guidelines, especially by primary care providers and/or other nonspecialists from whom patients with SCD may often seek treatment. “Awareness of these guidelines is low,” Dr. Hsu said.

Key resources that can be helpful include evidence-based guidelines developed by an expert panel of the National Heart, Lung, and Blood Institute, and the American Society of Hematology has a Pocket Guide app on management of sickle cell disease.

Another key resource being highlighted in September, which is National Sickle Cell Disease Awareness Month, is the NHLBI’s comprehensive website, providing information ranging from fact sheets on the disease and treatments to social media resources and inspiring stories of people with SCD.

“We are trying to bring more sickle cell information and case studies into medical school curricula, nursing curricula, social workers and community health workers awareness, [and] apps and online guidelines are proliferating,” Dr. Hsu says.

He goes on to say, “We need more recognition and resources from insurance providers that quality care for sickle cell disease is measured and rewarded.”

Dr. Hsu coauthored “Hope and Destiny: The Patient and Parent’s Guide to Sickle Cell Disease and Sickle Cell Trait.” He reported relationships with Novartis, Emmaus, Forma Therapeutic, Dupont/Nemours Children’s Hospital, Hilton Publishing, Asklepion, Bayer, CRISPR/Vertex, Cyclerion, Pfizer, and Aruvant.
 

Despite recent strides in the management and treatment of sickle cell disease (SCD), persistent misconceptions and ongoing issues – such as low utilization of important new therapies – reveal a pressing need to better inform both clinicians and patients about this condition.

Affecting more than 20 million people globally and 100,000 people nationwide, SCD is the most common inherited blood disorder in the United States. It occurs largely but not exclusively among people of African descent.

Patients with SCD develop crescent-shaped or “sickled” red blood cells that, unlike normally round cells, can potentially block blood flow and thus cause a host of problems ranging from a risk of stroke or infections to sometimes severe pain crises, called vaso-occlusive episodes.

To help ward off such complications, some key preventative measures and an array of therapies have become available in recent years: Newborn screening and prophylaxis, including the introduction of pneumococcal vaccines, have substantially reduced rates of invasive pneumococcal infection, which previously accounted for 32% of all causes of death in patients with SCD under the age of 20.

And while hydroxyurea was the only medication from 1998 to 2017 to alleviate acute pain episodes in SCD, newer options have become available in recent years, with l-glutamine, voxelotor, and crizanlizumab gaining FDA approval to further help prevent the episodes.

However, studies show that many if not most patients fail to receive adequate treatment, with one recent report indicating that, between 2016 and 2020, hydroxyurea was prescribed to fewer than 25% of patients with SCD, and fewer than 4% of people with the disease who experience chronic pain episodes had prescriptions for the newer FDA-approved drugs.
 

Myths and truths

To help clarify some common misconceptions that contribute to the problems, Lewis Hsu, MD, PhD, chief medical officer of the Sickle Cell Disease Association of America, detailed some of the most prevalent and persistent myths among clinicians about SCD:

Lewis Hsu.jpg

Pain level

Myths: Firstly, that sickle cell pain is not that bad, and patients therefore don’t really need opioid pain treatment, and secondly, that sickle cell pain is measurable by lab tests, such as the number of sickled red blood cells on a blood smear, reticulocytes, or hemoglobin level.

Truths: “Sickle cell vaso-occlusive pain can be very severe – a 10 on a scale of 10 – but the pain is usually only known by subjective report,” said Dr. Hsu, a pediatric hematologist who serves as director of the Sickle Cell Center and professor of pediatrics for the University of Illinois at Chicago.

“No lab test can be used to measure pain,” he said. “Other lab tests can be abnormal, and some have statistical correlation with lifetime severity of disease course, but the lab tests are not for determination of acute level of pain or absence of pain.”

Blacks only

Myth: SCD only affects Black people.

Truth: People who have sickle cell disease from many ethnic backgrounds and skin colors.

“Around the Mediterranean, there are sickle cell patients from Greece, Turkey, Italy, and Spain. Some are blond and blue-eyed. People in India and Pakistan have sickle cell disease,” Dr. Hsu explained.

In addition, “people from the Arabian Peninsula have sickle cell disease; some Malaysians have sickle cell disease; one child who is about third generation in Hong Kong has sickle cell disease.”

Parental link

Myth: Sickle cell disease only occurs in individuals both of whose parents have the sickle gene.

Truth: “There are types of sickle cell disease [involving] a sickle cell gene from one parent and a gene for hemoglobin C from the other parent,” Dr. Hsu noted. “Others inherited one sickle gene [from one parent] and inherited from the other parent a gene for beta thalassemia. Others involve an inherited sickle gene and hemoglobin E; others have inherited one sickle gene and inherited a gene for hemoglobin D-Punjab, while others have sickle and hemoglobin O-Arab.”

Effects beyond pain

Myth: A person who is not having sickle cell pain is otherwise not significantly affected by their disease.

Truth: “Organs can be damaged silently every day,” Dr. Hsu said. “Kidney failure, retina damage, and pulmonary hypertension are the most notable of organ systems that can suffer damage for a long time without symptoms, then develop symptoms when it is too late to intervene.”

“For this reason, individuals with sickle cell disease should have regular expert care for health maintenance that is disease specific,” Dr. Hsu added.
 

Consult guidelines

One final concern is a basic failure to utilize critical information sources and guidelines, especially by primary care providers and/or other nonspecialists from whom patients with SCD may often seek treatment. “Awareness of these guidelines is low,” Dr. Hsu said.

Key resources that can be helpful include evidence-based guidelines developed by an expert panel of the National Heart, Lung, and Blood Institute, and the American Society of Hematology has a Pocket Guide app on management of sickle cell disease.

Another key resource being highlighted in September, which is National Sickle Cell Disease Awareness Month, is the NHLBI’s comprehensive website, providing information ranging from fact sheets on the disease and treatments to social media resources and inspiring stories of people with SCD.

“We are trying to bring more sickle cell information and case studies into medical school curricula, nursing curricula, social workers and community health workers awareness, [and] apps and online guidelines are proliferating,” Dr. Hsu says.

He goes on to say, “We need more recognition and resources from insurance providers that quality care for sickle cell disease is measured and rewarded.”

Dr. Hsu coauthored “Hope and Destiny: The Patient and Parent’s Guide to Sickle Cell Disease and Sickle Cell Trait.” He reported relationships with Novartis, Emmaus, Forma Therapeutic, Dupont/Nemours Children’s Hospital, Hilton Publishing, Asklepion, Bayer, CRISPR/Vertex, Cyclerion, Pfizer, and Aruvant.
 

Having grown up with sickle cell disease (SCD), Titilope Fasipe, MD, PhD, codirector of the sickle cell program at Texas Children’s Hospital in Houston, knows firsthand the physical pain, mental anguish, and dread that have long accompanied this condition. So few child patients lived to reach adulthood that until recently, SCD was considered a pediatric disease.

These days, thanks to transformative advances in treating SCD that have substantially improved survival, Dr. Fasipe’s mission for a new generation of patients and their families is to replace their pain and fear with relief and hope.

Fasipe_Titilope_TX_web.jpg

“If you grow up thinking that you’re going to die when you’re 18, it changes your world and your viewpoints, and it impacts your mental health,” she told this news organization.

“We are trying to make sure our children and their families know that there is a new story for sickle cell disease, and you don’t have to use any age as your prediction marker for your lifespan,” Dr. Fasipe said.

SCD, which affects about 100,000 people nationwide, is an inherited blood disorder, with the majority of patients – but not all – being of African descent. This condition is characterized by pain crises, or vaso-occlusive episodes, triggered when cells that are sickled get stuck and impede blood flow. These crises can come on suddenly and range from mild to severe.

Dr. Fasipe was born in Nigeria, where rates of SCD are among the world’s highest. She attended elementary school in the United States, where her father was studying theology, before returning to Nigeria with her family at age 11.

Back in those days, in both nations only about 50% of children with SCD lived beyond their 18th birthday. The survival rates in Nigeria and sub-Saharan Africa countries continue to be poor. In some more developed regions elsewhere, advances such as universal newborn screening, penicillin prophylaxis, pneumococcal vaccination, stroke screening, and hydroxyurea therapy have yielded substantial improvements, with 95% or more patients with SCD reaching their 18th birthday.

“With measures such as newborn screening, we can immediately start prevention measures in sickle cell disease, such as prevention of infection, which was the number one reason why children were dying,” Dr. Fasipe explained. “With global initiatives, we want that story to be the same in sub-Saharan Africa as well.”
 

Cousin’s early death inspires medical studies

In an essay published by Texas Medical Center that describes her childhood experiences, Dr. Fasipe recounts a pivotal event in her life: The heartbreaking death of her beloved cousin at the age of just 17, from a complication of SCD. This bereavement fueled Dr. Fasipe’s determination to pursue a medical career, to do all that she could to prevent such losses.

“Having sickle cell disease myself wasn’t the trigger that made me become a doctor. But when Femi [her cousin] died, I thought: ‘This shouldn’t happen,’ ” Dr. Fasipe wrote.

When she applied to medical school back in the United States, she declared in her application essay: “I want to cure sickle cell.”

By the time Dr. Fasipe was ready to undertake residency and fellowship applications, her essay had shifted to focus on pediatrics “specifically because I want to reach sickle cell patients before they’ve defined how their lives are going to be,” she said. “I want to give them hope.”
 

Hope for a cure

Fast-forwarding to this point in Dr. Fasipe’s career, she noted that her dream of a cure for SCD is no longer a distant aspiration, thanks to the advent of stem cell transplantation and more recently, gene therapy. These advancements have elevated her hope for a cure to an entirely new level.

Each new treatment comes with caveats. Stem cell transplantation requires a matching donor, leaving the majority of patients ineligible. And while gene therapy eliminates the need for a donor, treatment can reportedly cost nearly $3 million. Nevertheless, Dr. Fasipe emphasized the promise that these new advancements represent.

“The scientists that work in these spaces do appreciate these [accessibility barriers], and the expectation is these therapies will be more accessible with time and effort,” she said. “We’ve got to start somewhere, and it’s exciting that they’re making these early successes.”
 

Advice for clinicians

With firsthand knowledge of how it feels to be the patient, as well as on the clinician side of SCD treatment, Dr. Fasipe advises colleagues on some ways that they can improve care while boosting their patients’ hope:

Speak with empathy

Acknowledge the ‘elephant in the room’; the pain that patients with SCD can experience is real.

“When I’m managing any patient with pain, I first acknowledge the suffering because while we may not understand what that person is going through, acknowledgment is part of showing empathy,” she explains.

Seek out resources

Patients with SCD may typically seek treatment in primary care, where expertise in the disease may be lacking, and general practitioners may feel frustrated that there are limited treatment options.

“If you do find yourself treating a sickle cell disease patient, you may not have all of the answers, but there are good resources, whether it’s a nearby sickle cell disease centers or national guidelines,” Dr. Fasipe said.

Access to treatment

With research, including a recent study, showing that only about 25% of patients with SCD are prescribed hydroxyurea and even fewer – only about 5% – receive more recently approved SCD treatments, clinicians should be proactive by making sure that patients receive needed treatments.

“Clearly medicines like hydroxyurea are not as optimized in this community space as they should be, and then there are newer therapies that families, patients, and even providers may not be aware of, so it is important to be informed of the guidelines and provide all patients with comprehensive, high-quality care,” Dr. Fasipe said.

In the ED, patients with SCD are ‘care-seeking,’ not drug-seeking

Due to the sometimes rapid onset of severe pain symptoms, patients with SCD commonly wind up in the emergency department. In this time of an opioid epidemic, patients too often are suspected of merely seeking drugs.

“Sickle cell disease tends to get lumped into a category of a disease of pain, but pain is subjective and it is difficult to quantify, so unfortunately, patients can be labeled as potentially drug-seeking,” Dr. Fasipe explained, citing an article that detailed this problem.

Consequently, patients may have particularly negative experiences in the emergency department, but the use of resources such as a sickle cell disease point-of-care tool developed by the American College of Emergency Physicians and the American Society of Hematology can help improve care for those patients.

“One of the [point-of-care recommendations] before even managing the pain is that physicians show compassion by acknowledging the patient’s pain and that they understand why pain with sickle cell disease might look different than other types of pain,” Dr. Fasipe said.
 

Building trust

Encounters such as negative emergency department experiences can perpetuate a deeper issue of distrust between those with SCD and the medical community, which originated in long-held, well-documented racial disparities in health care.

“We know historically and even today that there are difficulties facing our families who are impacted by sickle cell disease, and they are related to structural racism and socioeconomic barriers,” Dr. Fasipe explained.

With these issues in mind, she said, “I refer to sickle cell disease as the medical representation of the Black experience in America.” However, she added, the good news is “we are now doing our best now to improve that.”

Among key efforts in building trust is the inclusion of patients with SCD and their families in as many aspects of research and clinical care as possible.

“In the global health care community, it is imperative to invite people with sickle cell disease and from the community to the decision-making table,” she noted.

“Now, when we’re talking about research for therapies, their expectation is that research trials and other initiatives for sickle cell disease must have input from the community; there are no initiatives for sickle cell disease that do not have input from the community.

“The patients and community members may not be experts on the science of sickle cell, but they’re experts on the lived experience and that’s very important when you’re thinking about new bringing in a new therapy.”
 

Forward momentum

Meanwhile, Dr. Fasipe observed, with the collective, advocacy-driven, forward momentum of the SCD community as a whole, things should only continue to improve.

“Because of the various barriers, some progress may not be immediately around the corner, but I do have confidence that this current generation of children with sickle cell will have improved health equity by the time they reach adulthood,” she said.

“I believe in this future, so I’m doing the work now, and it’s a promise I tell parents: I want your future adult child to live their best life, and we’re working hard to ensure that that becomes their future reality.”
 

Sickle cell disease awareness

September is National Sickle Cell Disease Awareness Month, and the National Heart, Lung, and Blood Institute offers a comprehensive website that clinicians can pass along to their patients, with information ranging from fact sheets on the disease and treatments to social media resources and inspiring stories of people with the disease.

In a comment, Lewis Hsu, MD, PhD, chief medical officer of the Sickle Cell Disease Association of America, underscored the uniquely important contributions of people like Dr. Fasipe, in providing inspiration to patients and clinicians alike.

“I have worked with several physicians, nurses, psychologists, and public health specialists who have sickle cell disease,” said Dr. Hsu, who is a pediatric hematologist who also serves as director of the Sickle Cell Center and professor of pediatrics for the University of Illinois at Chicago.

“They are ambassadors who have the trust of both patients and healthcare providers,” Dr. Hsu said.

In addition to providing inspiration of resilience, such care providers can serve as “communication bridges,” he explained.

“When they are conference speakers, everybody wants to hear them; when they sit on advisory committees or focus groups, they can help find the compromise or set the priorities.”

“Their impact on the whole sickle cell community is very large,” Dr. Hsu said.

Having grown up with sickle cell disease (SCD), Titilope Fasipe, MD, PhD, codirector of the sickle cell program at Texas Children’s Hospital in Houston, knows firsthand the physical pain, mental anguish, and dread that have long accompanied this condition. So few child patients lived to reach adulthood that until recently, SCD was considered a pediatric disease.

These days, thanks to transformative advances in treating SCD that have substantially improved survival, Dr. Fasipe’s mission for a new generation of patients and their families is to replace their pain and fear with relief and hope.

Fasipe_Titilope_TX_web.jpg

“If you grow up thinking that you’re going to die when you’re 18, it changes your world and your viewpoints, and it impacts your mental health,” she told this news organization.

“We are trying to make sure our children and their families know that there is a new story for sickle cell disease, and you don’t have to use any age as your prediction marker for your lifespan,” Dr. Fasipe said.

SCD, which affects about 100,000 people nationwide, is an inherited blood disorder, with the majority of patients – but not all – being of African descent. This condition is characterized by pain crises, or vaso-occlusive episodes, triggered when cells that are sickled get stuck and impede blood flow. These crises can come on suddenly and range from mild to severe.

Dr. Fasipe was born in Nigeria, where rates of SCD are among the world’s highest. She attended elementary school in the United States, where her father was studying theology, before returning to Nigeria with her family at age 11.

Back in those days, in both nations only about 50% of children with SCD lived beyond their 18th birthday. The survival rates in Nigeria and sub-Saharan Africa countries continue to be poor. In some more developed regions elsewhere, advances such as universal newborn screening, penicillin prophylaxis, pneumococcal vaccination, stroke screening, and hydroxyurea therapy have yielded substantial improvements, with 95% or more patients with SCD reaching their 18th birthday.

“With measures such as newborn screening, we can immediately start prevention measures in sickle cell disease, such as prevention of infection, which was the number one reason why children were dying,” Dr. Fasipe explained. “With global initiatives, we want that story to be the same in sub-Saharan Africa as well.”
 

Cousin’s early death inspires medical studies

In an essay published by Texas Medical Center that describes her childhood experiences, Dr. Fasipe recounts a pivotal event in her life: The heartbreaking death of her beloved cousin at the age of just 17, from a complication of SCD. This bereavement fueled Dr. Fasipe’s determination to pursue a medical career, to do all that she could to prevent such losses.

“Having sickle cell disease myself wasn’t the trigger that made me become a doctor. But when Femi [her cousin] died, I thought: ‘This shouldn’t happen,’ ” Dr. Fasipe wrote.

When she applied to medical school back in the United States, she declared in her application essay: “I want to cure sickle cell.”

By the time Dr. Fasipe was ready to undertake residency and fellowship applications, her essay had shifted to focus on pediatrics “specifically because I want to reach sickle cell patients before they’ve defined how their lives are going to be,” she said. “I want to give them hope.”
 

Hope for a cure

Fast-forwarding to this point in Dr. Fasipe’s career, she noted that her dream of a cure for SCD is no longer a distant aspiration, thanks to the advent of stem cell transplantation and more recently, gene therapy. These advancements have elevated her hope for a cure to an entirely new level.

Each new treatment comes with caveats. Stem cell transplantation requires a matching donor, leaving the majority of patients ineligible. And while gene therapy eliminates the need for a donor, treatment can reportedly cost nearly $3 million. Nevertheless, Dr. Fasipe emphasized the promise that these new advancements represent.

“The scientists that work in these spaces do appreciate these [accessibility barriers], and the expectation is these therapies will be more accessible with time and effort,” she said. “We’ve got to start somewhere, and it’s exciting that they’re making these early successes.”
 

Advice for clinicians

With firsthand knowledge of how it feels to be the patient, as well as on the clinician side of SCD treatment, Dr. Fasipe advises colleagues on some ways that they can improve care while boosting their patients’ hope:

Speak with empathy

Acknowledge the ‘elephant in the room’; the pain that patients with SCD can experience is real.

“When I’m managing any patient with pain, I first acknowledge the suffering because while we may not understand what that person is going through, acknowledgment is part of showing empathy,” she explains.

Seek out resources

Patients with SCD may typically seek treatment in primary care, where expertise in the disease may be lacking, and general practitioners may feel frustrated that there are limited treatment options.

“If you do find yourself treating a sickle cell disease patient, you may not have all of the answers, but there are good resources, whether it’s a nearby sickle cell disease centers or national guidelines,” Dr. Fasipe said.

Access to treatment

With research, including a recent study, showing that only about 25% of patients with SCD are prescribed hydroxyurea and even fewer – only about 5% – receive more recently approved SCD treatments, clinicians should be proactive by making sure that patients receive needed treatments.

“Clearly medicines like hydroxyurea are not as optimized in this community space as they should be, and then there are newer therapies that families, patients, and even providers may not be aware of, so it is important to be informed of the guidelines and provide all patients with comprehensive, high-quality care,” Dr. Fasipe said.

In the ED, patients with SCD are ‘care-seeking,’ not drug-seeking

Due to the sometimes rapid onset of severe pain symptoms, patients with SCD commonly wind up in the emergency department. In this time of an opioid epidemic, patients too often are suspected of merely seeking drugs.

“Sickle cell disease tends to get lumped into a category of a disease of pain, but pain is subjective and it is difficult to quantify, so unfortunately, patients can be labeled as potentially drug-seeking,” Dr. Fasipe explained, citing an article that detailed this problem.

Consequently, patients may have particularly negative experiences in the emergency department, but the use of resources such as a sickle cell disease point-of-care tool developed by the American College of Emergency Physicians and the American Society of Hematology can help improve care for those patients.

“One of the [point-of-care recommendations] before even managing the pain is that physicians show compassion by acknowledging the patient’s pain and that they understand why pain with sickle cell disease might look different than other types of pain,” Dr. Fasipe said.
 

Building trust

Encounters such as negative emergency department experiences can perpetuate a deeper issue of distrust between those with SCD and the medical community, which originated in long-held, well-documented racial disparities in health care.

“We know historically and even today that there are difficulties facing our families who are impacted by sickle cell disease, and they are related to structural racism and socioeconomic barriers,” Dr. Fasipe explained.

With these issues in mind, she said, “I refer to sickle cell disease as the medical representation of the Black experience in America.” However, she added, the good news is “we are now doing our best now to improve that.”

Among key efforts in building trust is the inclusion of patients with SCD and their families in as many aspects of research and clinical care as possible.

“In the global health care community, it is imperative to invite people with sickle cell disease and from the community to the decision-making table,” she noted.

“Now, when we’re talking about research for therapies, their expectation is that research trials and other initiatives for sickle cell disease must have input from the community; there are no initiatives for sickle cell disease that do not have input from the community.

“The patients and community members may not be experts on the science of sickle cell, but they’re experts on the lived experience and that’s very important when you’re thinking about new bringing in a new therapy.”
 

Forward momentum

Meanwhile, Dr. Fasipe observed, with the collective, advocacy-driven, forward momentum of the SCD community as a whole, things should only continue to improve.

“Because of the various barriers, some progress may not be immediately around the corner, but I do have confidence that this current generation of children with sickle cell will have improved health equity by the time they reach adulthood,” she said.

“I believe in this future, so I’m doing the work now, and it’s a promise I tell parents: I want your future adult child to live their best life, and we’re working hard to ensure that that becomes their future reality.”
 

Sickle cell disease awareness

September is National Sickle Cell Disease Awareness Month, and the National Heart, Lung, and Blood Institute offers a comprehensive website that clinicians can pass along to their patients, with information ranging from fact sheets on the disease and treatments to social media resources and inspiring stories of people with the disease.

In a comment, Lewis Hsu, MD, PhD, chief medical officer of the Sickle Cell Disease Association of America, underscored the uniquely important contributions of people like Dr. Fasipe, in providing inspiration to patients and clinicians alike.

“I have worked with several physicians, nurses, psychologists, and public health specialists who have sickle cell disease,” said Dr. Hsu, who is a pediatric hematologist who also serves as director of the Sickle Cell Center and professor of pediatrics for the University of Illinois at Chicago.

“They are ambassadors who have the trust of both patients and healthcare providers,” Dr. Hsu said.

In addition to providing inspiration of resilience, such care providers can serve as “communication bridges,” he explained.

“When they are conference speakers, everybody wants to hear them; when they sit on advisory committees or focus groups, they can help find the compromise or set the priorities.”

“Their impact on the whole sickle cell community is very large,” Dr. Hsu said.

Having grown up with sickle cell disease (SCD), Titilope Fasipe, MD, PhD, codirector of the sickle cell program at Texas Children’s Hospital in Houston, knows firsthand the physical pain, mental anguish, and dread that have long accompanied this condition. So few child patients lived to reach adulthood that until recently, SCD was considered a pediatric disease.

These days, thanks to transformative advances in treating SCD that have substantially improved survival, Dr. Fasipe’s mission for a new generation of patients and their families is to replace their pain and fear with relief and hope.

Fasipe_Titilope_TX_web.jpg

“If you grow up thinking that you’re going to die when you’re 18, it changes your world and your viewpoints, and it impacts your mental health,” she told this news organization.

“We are trying to make sure our children and their families know that there is a new story for sickle cell disease, and you don’t have to use any age as your prediction marker for your lifespan,” Dr. Fasipe said.

SCD, which affects about 100,000 people nationwide, is an inherited blood disorder, with the majority of patients – but not all – being of African descent. This condition is characterized by pain crises, or vaso-occlusive episodes, triggered when cells that are sickled get stuck and impede blood flow. These crises can come on suddenly and range from mild to severe.

Dr. Fasipe was born in Nigeria, where rates of SCD are among the world’s highest. She attended elementary school in the United States, where her father was studying theology, before returning to Nigeria with her family at age 11.

Back in those days, in both nations only about 50% of children with SCD lived beyond their 18th birthday. The survival rates in Nigeria and sub-Saharan Africa countries continue to be poor. In some more developed regions elsewhere, advances such as universal newborn screening, penicillin prophylaxis, pneumococcal vaccination, stroke screening, and hydroxyurea therapy have yielded substantial improvements, with 95% or more patients with SCD reaching their 18th birthday.

“With measures such as newborn screening, we can immediately start prevention measures in sickle cell disease, such as prevention of infection, which was the number one reason why children were dying,” Dr. Fasipe explained. “With global initiatives, we want that story to be the same in sub-Saharan Africa as well.”
 

Cousin’s early death inspires medical studies

In an essay published by Texas Medical Center that describes her childhood experiences, Dr. Fasipe recounts a pivotal event in her life: The heartbreaking death of her beloved cousin at the age of just 17, from a complication of SCD. This bereavement fueled Dr. Fasipe’s determination to pursue a medical career, to do all that she could to prevent such losses.

“Having sickle cell disease myself wasn’t the trigger that made me become a doctor. But when Femi [her cousin] died, I thought: ‘This shouldn’t happen,’ ” Dr. Fasipe wrote.

When she applied to medical school back in the United States, she declared in her application essay: “I want to cure sickle cell.”

By the time Dr. Fasipe was ready to undertake residency and fellowship applications, her essay had shifted to focus on pediatrics “specifically because I want to reach sickle cell patients before they’ve defined how their lives are going to be,” she said. “I want to give them hope.”
 

Hope for a cure

Fast-forwarding to this point in Dr. Fasipe’s career, she noted that her dream of a cure for SCD is no longer a distant aspiration, thanks to the advent of stem cell transplantation and more recently, gene therapy. These advancements have elevated her hope for a cure to an entirely new level.

Each new treatment comes with caveats. Stem cell transplantation requires a matching donor, leaving the majority of patients ineligible. And while gene therapy eliminates the need for a donor, treatment can reportedly cost nearly $3 million. Nevertheless, Dr. Fasipe emphasized the promise that these new advancements represent.

“The scientists that work in these spaces do appreciate these [accessibility barriers], and the expectation is these therapies will be more accessible with time and effort,” she said. “We’ve got to start somewhere, and it’s exciting that they’re making these early successes.”
 

Advice for clinicians

With firsthand knowledge of how it feels to be the patient, as well as on the clinician side of SCD treatment, Dr. Fasipe advises colleagues on some ways that they can improve care while boosting their patients’ hope:

Speak with empathy

Acknowledge the ‘elephant in the room’; the pain that patients with SCD can experience is real.

“When I’m managing any patient with pain, I first acknowledge the suffering because while we may not understand what that person is going through, acknowledgment is part of showing empathy,” she explains.

Seek out resources

Patients with SCD may typically seek treatment in primary care, where expertise in the disease may be lacking, and general practitioners may feel frustrated that there are limited treatment options.

“If you do find yourself treating a sickle cell disease patient, you may not have all of the answers, but there are good resources, whether it’s a nearby sickle cell disease centers or national guidelines,” Dr. Fasipe said.

Access to treatment

With research, including a recent study, showing that only about 25% of patients with SCD are prescribed hydroxyurea and even fewer – only about 5% – receive more recently approved SCD treatments, clinicians should be proactive by making sure that patients receive needed treatments.

“Clearly medicines like hydroxyurea are not as optimized in this community space as they should be, and then there are newer therapies that families, patients, and even providers may not be aware of, so it is important to be informed of the guidelines and provide all patients with comprehensive, high-quality care,” Dr. Fasipe said.

In the ED, patients with SCD are ‘care-seeking,’ not drug-seeking

Due to the sometimes rapid onset of severe pain symptoms, patients with SCD commonly wind up in the emergency department. In this time of an opioid epidemic, patients too often are suspected of merely seeking drugs.

“Sickle cell disease tends to get lumped into a category of a disease of pain, but pain is subjective and it is difficult to quantify, so unfortunately, patients can be labeled as potentially drug-seeking,” Dr. Fasipe explained, citing an article that detailed this problem.

Consequently, patients may have particularly negative experiences in the emergency department, but the use of resources such as a sickle cell disease point-of-care tool developed by the American College of Emergency Physicians and the American Society of Hematology can help improve care for those patients.

“One of the [point-of-care recommendations] before even managing the pain is that physicians show compassion by acknowledging the patient’s pain and that they understand why pain with sickle cell disease might look different than other types of pain,” Dr. Fasipe said.
 

Building trust

Encounters such as negative emergency department experiences can perpetuate a deeper issue of distrust between those with SCD and the medical community, which originated in long-held, well-documented racial disparities in health care.

“We know historically and even today that there are difficulties facing our families who are impacted by sickle cell disease, and they are related to structural racism and socioeconomic barriers,” Dr. Fasipe explained.

With these issues in mind, she said, “I refer to sickle cell disease as the medical representation of the Black experience in America.” However, she added, the good news is “we are now doing our best now to improve that.”

Among key efforts in building trust is the inclusion of patients with SCD and their families in as many aspects of research and clinical care as possible.

“In the global health care community, it is imperative to invite people with sickle cell disease and from the community to the decision-making table,” she noted.

“Now, when we’re talking about research for therapies, their expectation is that research trials and other initiatives for sickle cell disease must have input from the community; there are no initiatives for sickle cell disease that do not have input from the community.

“The patients and community members may not be experts on the science of sickle cell, but they’re experts on the lived experience and that’s very important when you’re thinking about new bringing in a new therapy.”
 

Forward momentum

Meanwhile, Dr. Fasipe observed, with the collective, advocacy-driven, forward momentum of the SCD community as a whole, things should only continue to improve.

“Because of the various barriers, some progress may not be immediately around the corner, but I do have confidence that this current generation of children with sickle cell will have improved health equity by the time they reach adulthood,” she said.

“I believe in this future, so I’m doing the work now, and it’s a promise I tell parents: I want your future adult child to live their best life, and we’re working hard to ensure that that becomes their future reality.”
 

Sickle cell disease awareness

September is National Sickle Cell Disease Awareness Month, and the National Heart, Lung, and Blood Institute offers a comprehensive website that clinicians can pass along to their patients, with information ranging from fact sheets on the disease and treatments to social media resources and inspiring stories of people with the disease.

In a comment, Lewis Hsu, MD, PhD, chief medical officer of the Sickle Cell Disease Association of America, underscored the uniquely important contributions of people like Dr. Fasipe, in providing inspiration to patients and clinicians alike.

“I have worked with several physicians, nurses, psychologists, and public health specialists who have sickle cell disease,” said Dr. Hsu, who is a pediatric hematologist who also serves as director of the Sickle Cell Center and professor of pediatrics for the University of Illinois at Chicago.

“They are ambassadors who have the trust of both patients and healthcare providers,” Dr. Hsu said.

In addition to providing inspiration of resilience, such care providers can serve as “communication bridges,” he explained.

“When they are conference speakers, everybody wants to hear them; when they sit on advisory committees or focus groups, they can help find the compromise or set the priorities.”

“Their impact on the whole sickle cell community is very large,” Dr. Hsu said.