Screening for Fabry disease in high-risk populations: a systematic review

INTRODUCTION: Fabry disease (FD) may present with left ventricular hypertrophy, renal insufficiency or stroke. Several studies investigated FD prevalence in populations expressing these symptoms. We conducted a systematic review to calculate the overall prevalence of FD in these cohorts. METHODS: We searched online databases for studies on screening for FD. We recorded study population selection, screening methods and outcome of screening. RESULTS: We identified 20 studies, 10 of which included both male and female patients. In all (N=19) studies with male and almost all (N=10) with female patients aGal A activity was used as screening method. In males on dialysis (10 studies) overall FD prevalence was 0.33% (95% CI 0.20-0.47) and in females (6 studies) 0.10% (95%CI 0-0.19). Combined prevalence of FD in patients with renal transplant was 0.38% in males (95% CI 0.07-0.69) and 0% in females. In patients with LVH, selection of study-population and differences in the method of screening hampered the calculation of an overall prevalence (ranging from 0.9-3.9% in males and 1.1-11.8% in females). In premature strokes (N=2 studies) overall FD prevalence was 4.2% (95CI 2.4-6.0) in males and 2.1% (95CI 0.5-3.7)) in females. DISCUSSION: Prevalence of FD in dialysis patients is 0.33% for males and 0.10% for females. Prevalence of FD in LVH is at least 1% for both genders. In females most studies were performed with aGal A activity measurements as screening tool, although this method fails to detect 1/3 of female patients with FD, underestimating the overall prevalence in females