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Clinical features and diagnosis of Fabry disease

Michael Mauer, MD
Jeffrey B Kopp, MD
Section Editor
Gary C Curhan, MD, ScD
Deputy Editor
Albert Q Lam, MD


Fabry disease, also called Anderson-Fabry disease, is the second most prevalent lysosomal storage disorder after Gaucher disease. It is an X-linked inborn error of the glycosphingolipid metabolic pathway. This results in accumulation of globotriaosylceramide (Gb3) within lysosomes in a wide variety of cells, thereby leading to the protean manifestations of the disease [1].

This topic provides an overview of Fabry disease, with an emphasis on kidney disease. The cardiac and neurologic manifestations, and the treatment of Fabry disease, are discussed elsewhere. (See "Clinical features, diagnosis, and management of patients with Fabry disease with cardiac disease" and "Neurologic manifestations of Fabry disease" and "Treatment of Fabry disease".)


The prevalence of Fabry disease is estimated to range from 1:17,000 to 1:117,000 males in Caucasian populations [2-4]. However, the disease is seen across all ethnic and racial groups [4].

The prevalence of Fabry disease is probably underestimated given incomplete ascertainment. This is likely since [4,5]:

The manifestations of the disease are nonspecific.


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Literature review current through: Sep 2016. | This topic last updated: Oct 21, 2014.
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