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Results of a Nationwide Screening for Anderson-Fabry Disease among Dialysis Patients

Peter Kotanko^*, Reinhard Kramar, Danijela Devrnja, Eduard Paschke, Till Voigtländer, Martin Auinger^#, Klaus Demmelbauer^**, Matthias Lorenz^||, Anna-Christine Hauser^||, Hans-Jörg Kofler, Karl Lhotta, Ulrich Neyer, Wolfgang Pronai^||||, Manfred Wallner, Clemens Wieser^¶¶, Martin Wiesholzer^##, Herbert Zodl^***, Manuela Födinger^¶ and Gere Sunder-Plassmann^||

*Krankenhaus der Barmherzigen Brüder, Teaching Hospital of the Karl Franzens University Graz, Department of Internal Medicine, Graz; Krankenhaus Wels; Laboratory of Metabolic Diseases, Department of Pediatrics, University of Graz; Institute of Neurology, ^||Division of Nephrology and Dialysis, Department of Medicine III, and ^¶Clinical Institute of Medical and Chemical Laboratory Diagnostics, University of Vienna; ^#Krankenhaus Lainz; **Krankenhaus Ried im Innkreis; Landeskrankenhaus Salzburg; Division of Clinical Nephrology, Department of Internal Medicine, Innsbruck University Hospital; Landeskrankenhaus Feldkirch; ^||||Krankenhaus der Barmherzigen Brüder Eisenstadt; ^¶¶Landeskrankenhaus Klagenfurt; ^##Landeskrankenhaus St. Pölten; and ***Landeskrankenhaus Wr. Neustadt, Austria.

Correspondence to Dr. Gere Sunder-Plassmann, Division of Nephrology and Dialysis, Department of Medicine III, University of Vienna, Währinger Gürtel 18-20, A-1090 Wien, Austria. Phone: +43-1-40400-4391, Fax: +43-1-40400-4392; E-mail: Gere.Sunder-Plassmann{at}meduniwien.ac.at

ABSTRACT. Anderson-Fabry disease is possibly underdiagnosed in patients with end-stage renal disease. Nationwide screening was therefore undertaken for Anderson-Fabry disease among dialysis patients in Austria. Screening for -galactosidase A (AGAL) deficiency was performed by a blood spot test. In patients with a positive screening test, AGAL activity in leukocytes was determined. Individuals with decreased leukocyte AGAL activity were subjected to mutation testing in the GLA gene. Fifty (90.9%) of 55 Austrian hemodialysis centers participated in this study; 2480 dialysis patients (80.1% of the Austrian dialysis population) were screened. In 85 patients, the screening test was positive (85 of 2480, 3.42%; women, 3.32%; men, 3.50%). Among these 85 patients, 4 men (in 3 of whom Anderson-Fabry disease was already known before screening) had a severely decreased and 11 subjects had a borderline low AGAL activity. Genetic testing revealed mutations associated with Fabry disease in all four men with severely decreased AGAL activity resulting in a prevalence of 0.161% for the entire study population. A nationwide screening of dialysis patients permitted detection of a hitherto unknown man with Anderson-Fabry disease. The overall prevalence among dialysis patients was at least ten times higher as compared with recent registry data. Screening programs among patients with end-stage renal disease, especially men, should be put in place to identify families with Anderson-Fabry disease who probably may benefit from specific clinical care, and perhaps from enzyme replacement therapy. In dialysis patients, however, there is no evidence to support enzyme replacement therapy at present.

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