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J Med Genet. 2010 Apr;47(4):217-22. doi: 10.1136/jmg.2009.072116. Epub 2009 Sep 24.

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

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Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, The Netherlands.



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.


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


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, alpha-galactosidase A (alpha-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.


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 alpha-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.

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