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Background <p>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 <i>GLA</i> 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.</p> Methods <p>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 I<sup>2</sup>, and meta-regression was used to explore variability.</p> Results <p>Sixteen studies (n = 7048) were included. The pooled prevalence of FD in CS was 1.3% (95% CI 0.75–2.32%; I<sup>2</sup> = 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.</p> Conclusion <p>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.</p> Level of evidence <p>III.</p>

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Prevalence of Fabry disease in cryptogenic stroke: a systematic review and meta-analysis with meta-regression

  • 期刊论文

  • 发表日期：

    2025年10月22日

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  • Pedro Lucas Machado Magalhães,
  • Ocílio Ribeiro Gonçalves,
  • Othon Trevisan Meira,
  • Anderson Matheus Pereira da Silva,
  • Mariana Letícia Bastos de Maximiano,
  • Mariana Lee Han,
  • Luciano Falcão,
  • Elizabeth Honorato de Farias,
  • Lucca Tamara Alves Carretta,
  • Fabíola Rachid Malfetano

摘要

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.