Prevalence of Fabry disease in stroke patients--a systematic review and meta-analysis

Abstract

Background: Fabry disease is an uncommon but treatable cause of stroke. Enzyme replacement therapy helps improve neurologic symptoms. We conducted a systematic review and meta-analysis to evaluate the prevalence of Fabry disease in stroke patients.

Methods: We searched MEDLINE and EMBASE databases for relevant articles published in English up to February 2013. Studies that reported incidence or prevalence of Fabry disease in stroke patients were included. Two reviewers independently assessed studies to determine eligibility, validity, and quality. Meta-analysis was performed to calculate the prevalence of Fabry disease by etiology and gender.

Results: Nine studies (n = 8302 patients) met the inclusion criteria. Eight studies (n = 8148) examined the prevalence of Fabry disease in young stroke patients. Overall qualities of included studies were moderate to high. The prevalence of Fabry disease ranged from .4% to 2.6% on strokes of any etiologies. In cryptogenic stroke, the prevalence ranged from .6% to 11.1%, 4.5% in men (95% confidence interval [CI] = 3.2%-6.3%) and 3.4% in women (95% CI = 1.0%-10.7%). The prevalence of Fabry disease in patients with all etiologies was similar in men (.9% [95% CI = .3%-2.3%]) and (1.4% [95% CI = .7%-2.7%]) in women.

Conclusions: Fabry disease may explain approximately 1% of all strokes in the young, including 3%-5% of cryptogenic strokes. The confirmation of Fabry disease may be challenging as there are different criteria for men and women. Early recognition of Fabry disease may help initiate the appropriate treatment to decrease the risk of subsequent complications.

Keywords: Fabry disease; meta-analysis; prevalence; stroke; youth.