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J Med Genet 47:217-222 doi:10.1136/jmg.2009.072116
  • Review

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

  1. C E M Hollak1
  1. 1Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  2. 2Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  3. 3Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  1. Correspondence to Gabor E Linthorst, Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Room F5-156, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands; g.e.linthorst{at}amc.nl
  1. Contribution All authors took part in writing and correcting the manuscript.

  • Received 2 August 2009
  • Revised 9 September 2009
  • Published Online First 24 September 2009

Abstract

Introduction Fabry disease (FD) may present with left ventricular hypertrophy (LVH), renal insufficiency or stroke. Several studies investigated FD prevalence in populations expressing these symptoms. A systematic review was conducted to calculate the overall prevalence of FD in these cohorts.

Methods Online databases were searched for studies on screening for FD. Study population selection, screening methods and outcome of screening were recorded.

Results 20 studies were identified, 10 of which included both male and female patients. In all (n=19) studies with male and almost all (n=10) with female patients, α-galactosidase A (α-Gal A) activity was used as the screening method. In men on dialysis (10 studies), overall FD prevalence was 0.33% (95% CI 0.20% to 0.47%) and in women (6 studies) 0.10% (95% CI 0% to 0.19%). Combined prevalence of FD in patients with renal transplant was 0.38% in men (95% CI 0.07% to 0.69%) and 0% in women. 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% to 3.9% in men and 1.1% to 11.8% in women). In premature strokes (n=2 studies), overall FD prevalence was 4.2% (95% CI 2.4% to 6.0%) in men and 2.1% (95% CI 0.5% to 3.7%) in women.

Discussion The prevalence of FD in dialysis patients is 0.33% for men and 0.10% for women. The prevalence of FD in LVH is at least 1% for both genders. In women, most studies were performed with α-Gal A activity measurements as the screening tool, although this method fails to detect one third of female patients with FD, underestimating the overall prevalence in women.

Footnotes

  • Competing interests None to declare.

  • Provenance and peer review Not commissioned; externally peer reviewed.