Fabry's disease

Fabry's disease is an inherited condition in which an enzyme deficiency prevents the body from breaking down molecules known as glycosphingolipids. These molecules then accumulate in the kidneys, heart, and nerves and throughout the body, eventually causing serious symptoms.

The disease affects males more severely than females. In males, Fabry's disease may cause heart and kidney problems, clouding of the cornea and lens of the eye, lesions on the skin and within the mouth, decreased ability to sweat, and pain in the hands and feet. Females may not show any symptoms or may have impaired heart function.

Fabry's disease is treated with medicines that replace the missing enzyme. This medicine helps the body break down glycosphingolipids and helps prevent complications. The medicine slows the progress of Fabry's disease.

Last Updated: August 26, 2008

Author: Robin Parks, MS

Medical Review: Caroline S. Rhoads, MD - Internal Medicine & Stephen Fort, MD, MRCP, FRCPC - Interventional Cardiology

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