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Fabry disease: Treatment

Michael Mauer, MD
Jeffrey B Kopp, MD
Section Editors
Gary C Curhan, MD, ScD
Barbara Murphy, MB, BAO, BCh, FRCPI
Deputy Editor
Albert Q Lam, MD


Fabry disease, also called Anderson-Fabry disease, is the second most prevalent lysosomal storage disorder after Gaucher's 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 [1,2].

There is no cure for Fabry disease. Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacological chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals. The impact of these therapies on mortality is unknown.

The treatment and prognosis of Fabry disease is presented here. The epidemiology, pathogenesis, clinical manifestations, and diagnosis of this disorder are discussed separately. (See "Clinical features and diagnosis of Fabry disease" and "Fabry disease: Clinical features, diagnosis, and management of cardiac disease" and "Fabry disease: Neurologic manifestations".)


The treatment of patients with Fabry disease primarily focuses upon replacing the missing or deficient enzyme (alpha-galactosidase A, or alpha-Gal A). All classically affected males (ie, with very low or undetectable levels of alpha-Gal A) should receive enzyme replacement therapy (ERT) as soon as the diagnosis is made, regardless of whether or not clinical manifestations are present. Female carriers and atypically affected males (ie, with marginal levels of alpha-Gal A) should receive ERT if clinical manifestations (eg, renal, neurologic, cardiovascular) are present. We also treat patients who have end-stage renal disease (ESRD) with enzyme replacement, as this may reduce cardiovascular and neurologic complications of Fabry disease. Although new approaches are being developed, their role in the treatment of Fabry disease is much less well defined. (See 'Alternatives to ERT' below.)

Patients who develop chronic kidney disease should receive the same monitoring and care as a patient with chronic kidney disease due to a different etiology. (See "Overview of the management of chronic kidney disease in adults".)

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Literature review current through: Nov 2017. | This topic last updated: Aug 08, 2017.
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