ESTIMATING THE PREVALENCE OF FAMILIAL HYPERCHOLESTEROLEMIA IN STROKE AND TRANSITORY ISCHEMIC ATTACK POPULATION: A...

Familial hypercholesterolemia (FH) is a common inherited disorder characterized by lifelong elevation of LDL-cholesterol. While FH prevalence is well described in coronary populations, its contribution to cerebrovascular disease is less clear. This study aims to address this gap by systematically reviewing and synthesizing available evidence to estimate the prevalence of FH in patients with ischemic stroke or transitory ischemic attack overall and across key subgroups.

This systematic review included original observational studies, with data on stroke and FH. The protocol was registered in PROSPERO with the ID CRD420251162340. Two reviewers independently screened records, extracted study characteristics and assessed risk of bias.

Four studies involving 389272 stroke/transient ischemic attack (TIA) patients (2083 with FH) met eligibility criteria. The pooled prevalence of FH was 0.96% (95% CI 0.11-7.63), with significant between-study heterogeneity (I²=95.3%, τ²=1.7139, p<0.0001). Among patients with large artery atherosclerosis (LAA) strokes, FH prevalence was 2.89% (95% CI 0.05-63.28%), also with highheterogeneity (I²=93.9%, τ²=2.4854, p<0.0001).

The evidence linking FH to stroke remains limited and highly heterogeneous, preventing firm quantitative conclusions. However, the available studies offer preliminary signals that FH may have relevance beyond cardiology and should be considered in discussions of cerebrovascular risk. Given the small number of studies and their methodological variability, further research with standardized diagnostic criteria and larger, well-designed cohorts is needed to clarify this relationship and to determine whether improved detection and management of FH in stroke populations could help reduce the broader burden of atherosclerotic disease.