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 in 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.
Rakesh K. Pai, MD, FACC - Cardiology, Electrophysiology & Robert A. Kloner, MD, PhD - Cardiology
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