Abstract

Purpose

Fabry’s Disease (FD) is an X-linked lysosomal storage disease due to a deficiency of the alpha-galactosidase A (αGAL A) enzyme. FD results in multi-organ damage and a spectrum of clinical manifestations that include cerebrovascular disease (CVD)².

Methods

Protocol: Meta-Analyses of Observational Studies in Epidemiology (MOOSE) protocol. Eligibility Criteria and Study Selection: Full text observational studies written in English, language in the last 20 years. We excluded reviews and case controls.Data extraction and Analysis: Patients with either IS or TIA between 18-59 years. Patients were diagnosed if they had either the pathogenic gene deficiency and/or elevated Globotriaosylceramide (Gb3).We calculated the overall prevalence of FB in patients with IS or TIA.  We analyzed the bias of the studies usig a Robins-1 tool

Results

We identified 11 observational studies from 15 different countries.  Out 8132 patients with IS or TIA, 80 had FD (0.98%). Only two studies with 5418 patients differentiate between IS (39), and TIA (10) had FD.

Missense mutation is the most mentioned pathologic gene change.Cardiac arrythmias, hypertrophic cardiomyopathy and myocardial infarction may contribute to the occurrence of the stroke in patients with FD. Results may be affected by study limitations including small sample size, lack of common diagnostic algorithm for young stroke patients, focus of study on inpatient stroke patients and not performing gene analysis on all stroke patients under the study.

Conclusions

The prevalence of FD varies across countries and should be considered in unexplained stroke in young patients.There is a need for a central stroke registry incorporating FD screening to allow for timely treatment of FD.Further studies are required to determine the pathogenicity of some polymorphic and variant mutations in causing FD.