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.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.