Unusually High Prevalence of Stroke and Cerebral Vasculopathy in Hemoglobin SC Disease: A Retrospective Single Institution Study

Sathi, Bindu Kanathezhath; Yoshida, Yilin; Weaver, Michael; Nolan, Lila S.; Gruner, Barbara; Balasa, Vinod; Altes, Talissa A.; Leiva‐Salinas, Carlos

doi:10.1159/000519360

Cited by 3 publications

(2 citation statements)

References 33 publications

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“… 75 Recent reports suggest that SCI in people with HbSC disease may be more common than previously recognized. 78 , 79 …”

Section: Primary Stroke Preventionmentioning

confidence: 99%

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Managing the Cerebrovascular Complications of Sickle Cell Disease: Current Perspectives

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Boucher²,

Baskin‐Miller³

et al. 2023

JBM

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The importance of protecting brain function for people with sickle cell disease (SCD) cannot be overstated. SCD is associated with multiple cerebrovascular complications that threaten neurocognitive function and life. Without screening and preventive management, 11% of children at 24% of adults with SCD have ischemic or hemorrhagic strokes. Stroke screening in children with SCD is well-established using transcranial Doppler ultrasound (TCD). TCD velocities above 200 cm/s significantly increase the risk of stroke, which can be prevented using chronic red blood cell (RBC) transfusion. RBC transfusion is also the cornerstone of acute stroke management and secondary stroke prevention. Chronic transfusion requires long-term management of complications like iron overload. Hydroxyurea can replace chronic transfusions for primary stroke prevention in a select group of patients or in populations where chronic transfusions are not feasible. Silent cerebral infarction (SCI) is even more common than stroke, affecting 39% of children and more than 50% of adults with SCD; management of SCI is individualized and includes careful neurocognitive evaluation. Hematopoietic stem cell transplant prevents cerebrovascular complications, despite the short- and long-term risks. Newer disease-modifying agents like voxelotor and crizanlizumab, as well as gene therapy, may treat cerebrovascular complications, but these approaches are investigational.

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“… 75 Recent reports suggest that SCI in people with HbSC disease may be more common than previously recognized. 78 , 79 …”

Section: Primary Stroke Preventionmentioning

confidence: 99%

“…75 Recent reports suggest that SCI in people with HbSC disease may be more common than previously recognized. 78,79 Once SCI is identified, it requires ongoing radiographic and clinical evaluation. Management of SCI is an individual process.…”

Section: Silent Cerebral Infarctionmentioning

confidence: 99%

Managing the Cerebrovascular Complications of Sickle Cell Disease: Current Perspectives

Light¹,

Boucher²,

Baskin‐Miller³

et al. 2023

JBM

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Unusually High Prevalence of Stroke and Cerebral Vasculopathy in Hemoglobin SC Disease: A Retrospective Single Institution Study

et al. 2021

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Introduction: Unlike homozygous hemoglobin SS (HbSS) disease, stroke is a rare complication in hemoglobin SC (HbSC) disease. However, recent studies have demonstrated a high prevalence of silent stroke in HbSC disease. The factors associated with stroke and cerebral vasculopathy in the HbSC population are unknown. Methods: We conducted a retrospective study of all patients with sickle cell disease treated at the University of Missouri, Columbia, over an 18-year period (2000–2018). The goal of the study was to characterize the silent, overt stroke, and cerebral vasculopathy in HbSC patients and compare them to patients with HbSS and HbS/β thalassemia1 (thal) in this cohort. We also analyzed the laboratory and clinical factors associated with stroke and cerebral vasculopathy in the HbSC population. Results: Of the 34 HbSC individuals, we found that the overall prevalence of stroke and cerebral vasculopathy was 17.7%. Only females had evidence of stroke or cerebral vasculopathy in our HbSC cohort (33.3%, p = 0.019). Time-averaged means of maximum velocities were lower in the HbSC group than the HbSS group and did not correlate with stroke outcome. Among HbSC individuals, those with stroke and cerebral vasculopathy had a marginally higher serum creatinine than those without these complications (0.77 mg/dL vs. 0.88 mg/dL, p = 0.08). Stroke outcome was associated with recurrent vaso-occlusive pain crises (Rec VOCs) (75 vs. 25%, p = 0.003) in HbSC patients. The predominant cerebrovascular lesions in HbSC included microhemorrhages and leukoencephalopathy. Conclusion: There is a distinct subset of individuals with HbSC who developed overt, silent stroke, and cerebral vasculopathy. A female predominance and association with Rec VOCs were identified in our cohort; however, larger clinical trials are needed to identify and confirm specific clinical and laboratory markers associated with stroke and vasculopathy in HbSC disease.

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Most adults with severe HbSC disease are not treated with hydroxyurea

et al. 2023

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HbSC disease is the second most frequent sickle cell disease (SCD) genotype after HbSS. Globally, approximately 55,000 newborns are delivered annually with HbSC disease, with the highest HbC gene frequency in West Africa. In Ghana, 40% of adults attending the Ghana Institute of Clinical Genetics SCD clinic have HbSC. Unlike HbSS, hydroxyurea is not routinely recommended for use in individuals with HbSC disease because of the perceived high risk benefit ratio. To test the hypothesis that at least 5% of adults with HbSC will meet the American Society of Hematology (ASH) criteria for severe disease, we conducted a retrospective descriptive cohort study of all individuals with HbSC (≥18 years) who attended the clinic in 2019 (N=1,018). HbSC adults ages 18-45 years were then selected (n=639). We identified a comparison group of 639 individuals with HbSS, frequency matched by age and gender to the individuals with HbSC. Severe disease was defined as a history of ≥ 3 SCD-associated moderate to severe pain episodes/year, a history of acute chest syndrome, and severe symptomatic chronic anemia that interferes with daily activities or quality of life. Study endpoints were the proportion of individuals with SCD who met the definition of severe disease and were eligible for hydroxyurea. In total, 10.0% (64/639) of individuals with HbSC met the eligibility criteria for hydroxyurea therapy, compared to 24.1% (154/639) of individuals with HbSS, p<0.001. Less than 1% and 3% of individuals with severe HbSC and HbSS, respectively, are routinely prescribed hydroxyurea in this tertiary care medical center.

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Unusually High Prevalence of Stroke and Cerebral Vasculopathy in Hemoglobin SC Disease: A Retrospective Single Institution Study

Cited by 3 publications

References 33 publications

Managing the Cerebrovascular Complications of Sickle Cell Disease: Current Perspectives

Managing the Cerebrovascular Complications of Sickle Cell Disease: Current Perspectives

Unusually High Prevalence of Stroke and Cerebral Vasculopathy in Hemoglobin SC Disease: A Retrospective Single Institution Study

Most adults with severe HbSC disease are not treated with hydroxyurea

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