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Screening for Fabry disease in high risk populations: a systematic review
  1. Gabor E Linthorst (g.e.linthorst{at}
  1. Academic Medical Centre, Netherlands
    1. Machtelt G Bouwman (m.g.bouwman{at}
    1. Academic Medical Centre, Netherlands
      1. Frits A Wijburg (f.a.wijburg{at}
      1. Academic Medical Centre, Netherlands
        1. Johannes MFG Aerts (j.m.aerts{at}
        1. Academic Medical Centre, Netherlands
          1. Ben J H M Poorthuis (b.j.poorthuis{at}
          1. Academic Medical Centre, Netherlands
            1. Carla E M Hollak (c.e.hollak{at}
            1. Academic Medical Centre, Netherlands


              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.

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