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Screening and Diagnosis

Kistler AD, Siwy J, Breunig F et al.

University Hospital, Zürich, Switzerland.

 PLoS One 2011;6:e20534.

Editor’s note: Enzyme replacement therapy (ERT) is recommended by most experts for all men with Fabry disease; however, there is less agreement on which female patients should receive ERT. Treating all heterozygous females is not justified owing to the benign disease course in many individuals and the high cost of ERT, but limiting ERT to only those with end-organ damage would delay therapy to a point of “no return”. Unfortunately, a reliable disease biomarker indicating the burden of the disease is still not available. The usefulness of plasma and urinary globotriaosylceramide (Gb3) levels has been questioned – Gb3 is not elevated in most hemizygous female patients. Thus, reliable biomarkers for Fabry disease are needed, particularly for female patients.

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