Fabry's disease

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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.

Credits

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Author	Jeannette Curtis
Author	Caroline Rea, RN, BS, MS
Editor	Kathleen M. Ariss, MS
Editor	Susan Van Houten, RN, BSN, MBA
Associate Editor	Tracy Landauer
Associate Editor	Pat Truman, MATC
Primary Medical Reviewer	Patrice Burgess, MD - Family Medicine
Primary Medical Reviewer	Adam Husney, MD - Family Medicine
Primary Medical Reviewer	Kathleen Romito, MD - Family Medicine
Last Updated	May 25, 2007

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Last updated:	May 25, 2007
Author:	Caroline Rea, RN, BS, MS
Reviewed By:	Kathleen Romito, MD - Family Medicine
Editors:	Susan Van Houten, RN, BSN, MBA, Pat Truman, MATC

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