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Prevalence of Fabry disease in cryptogenic stroke: a systematic review and meta-analysis with meta-regression
Pedro Lucas Machado Magalhães1, Ocílio Ribeiro Gonçalves2, Othon Trevisan Meira3
1Faculty of Medicine, Institute of Medical Education, Angra dos Reis, Rio de Janeiro, Brazil. pedrolucas.magalhaes@icloud.com.
Insights
Fabry disease (FD) is a rare cause of cryptogenic stroke (CS), affecting 1.3% of patients. Early detection in young males with specific symptoms is crucial for better management.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Cryptogenic stroke (CS) is a stroke of unknown origin, particularly concerning in young adults.
- Fabry disease (FD), an X-linked lysosomal storage disorder due to GLA mutations, is a potential, yet uncertain, cause of CS.
- FD leads to alpha-galactosidase A deficiency, globotriaosylceramide accumulation, and cerebrovascular events.
Conclusions:
- Fabry disease represents a small but significant proportion of cryptogenic stroke cases.
- Targeted screening in young males exhibiting specific symptoms may enhance early FD detection.
- Standardized diagnostic approaches are recommended for cost-effective identification and management of FD in CS.
Background:
Cryptogenic stroke (CS) is an ischemic stroke with no identifiable cause after extensive evaluation and is particularly concerning in young adults. Among potential etiologies, Fabry disease (FD), a rare X-linked lysosomal storage disorder caused by GLA mutations, has been implicated. FD leads to α-galactosidase A deficiency and accumulation of globotriaosylceramide in endothelial cells, contributing to cerebrovascular events. However, the prevalence and clinical features of FD in CS remain uncertain. To determine the prevalence of FD in CS and characterize its classical manifestations.
Methods:
We performed a systematic review and meta-analysis (PROSPERO: CRD420251003865) in accordance with PRISMA 2020. PubMed, Embase, Web of Science, and Scopus were searched through January 2025. Eligible studies assessed FD among adult CS patients using enzymatic and/or genetic testing. A random-effects model was used to calculate pooled prevalence estimates. Heterogeneity was evaluated via I2, and meta-regression was used to explore variability.
Results:
Sixteen studies (n = 7048) were included. The pooled prevalence of FD in CS was 1.3% (95% CI 0.75-2.32%; I2 = 56.4%). Among FD-positive patients, the pooled prevalence of hypohidrosis was 15.9%, acroparesthesia 8.9%, pain crises 6.0%, angiokeratoma 3.7%, and cornea verticillata 1.9%. Meta-regression identified male sex as a significant predictor.
Conclusion:
FD accounts for a small but clinically relevant proportion of cryptogenic strokes. Selective screening, especially in young males with systemic redflags, may improve early detection. Future research should adopt standardized diagnostic algorithms to enhance cost-effective identification and management.
Level Of Evidence:
III.
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