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.
The goal of treatment is to help prevent complications and slow the progress of Fabry's disease. Medicines are used to help the body break down glycosphingolipids.
Current as of: August 2, 2022
Medical Review:Adam Husney MD - Family Medicine & Rakesh K. Pai MD, FACC - Cardiology, Electrophysiology & Martin J. Gabica MD - Family Medicine & Steven J. Atlas MD, MPH - Internal Medicine