Cerebrovascular involvement in hereditary spherocytosis: observational cohort and case-control MRI study

Background: Anecdotal Literature regarding hereditary spherocytosis, a rare hemolytic anemia, points to an early cerebrovascular involvement that would imply early strict patients’ monitoring and management. However, this issue is under-investigated. Methods: Clinical history regarding cerebrovascular events in the young (< 55 years) was investigated in a referral Center for hereditary spherocytosis (190 patients; mean-age 23.5 ± 17.4 years; range 1–77; 93 females). By means of 3T-MR scanner, intracranial artery stenoses, aneurysms, brain infarctions, vascular-like white matter lesions and signs of sinus thrombosis were searched in 69 adult patients (mean-age 36.5 ± 16.3 years, range 14–76, 38 females) and in 56 healthy subjects (mean-age 34 ± 10.8 years, range 17–66, 36 females). Laboratory and clinical data, including splenectomy, were collated. Results: Among patients no cerebrovascular events occurred before the age of 55, while among their first-degree relatives, sudden death of unknown cause occurred in three subjects, two of them not affected by hereditary spherocytosis. In the MR-subgroup, moya-moya or even intracranial stenoses were not observed, while intracranial aneurysm (11.6% vs 8.9%), gray matter infarction (one patient), previous venous thrombosis (one patient) and white matter lesion (49.3% vs 50%) prevalence rates did not differ significantly between patients and controls. White matter changes did not differ also in terms of number or size and were not associated with laboratory or clinical findings. Conclusions: In spite of an evocative case-report-based Literature, early cerebrovascular involvement in hereditary spherocytosis does not seem to differ significantly from the general population. A strict clinical and MR monitoring in neurological asymptomatic patients seems therefore not recommended.