Prevalence of fabry disease in stroke patients: meta-analysis.

Abstract

Background and aims: Fabry disease, a rare X-linked inherited lysosomal storage disorder caused by mutation in the alpha-galactosidase (alpha-GAL) A gene, has been suggested to occur in 1 - 4% of strokes. This study aims to estimate the prevalence of Fabry disease among adults presenting with stroke. Method(s): PubMed, Embase, conference proceedings and reference lists of relevant papers were searched for studies in English published up to 31st October 2021, reporting "stroke" and "Fabry". We performed a meta-analysis of published studies (n=31, size=17430 patients) on prevalence of Fabry disease among patients presenting with stroke. Result(s): The meta-analysis found that the proportion stroke patients with Fabry disease was 0.00051 (95% CI 0.0000-0.00177, approximately 51 cases per 100000 stroke, I2= 52.2%, see Forest plot ordered by estimate of proportion of Fabry disease) and increase to 0.00477 (95% CI 0.00183-0.00898, 489 cases per 100000, I2= 83.3%) when variants (D313Y, A143T, S126G) are included in the analysis. Meta-regression shows that geographical regions of the studies increase the prevalence (beta=0.1255, 95% CI 0.0512-0.1998, p=0.0009). When variants are included, meta-regression shows additionally that variants increase estimate for each additional patient with variant added (beta=0.0028, 95% CI 0.00008 - 0.0048, p=0.0068), but not year of publication, age, sample size or study restricted to lacunar stroke or mechanism. Conclusion(s): Our study demonstrates that stroke is a rare presentation of Fabry disease if the diagnosis does not include variants. Meta-regression did not identify other criteria to help narrow the search for Fabry disease beyond geographical region and inclusion of variants. (Figure Presented).