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Fabry disease is an inherited disorder that results from the buildup of a specific type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias), clusters of small, dark red spots on the skin called angiokeratomas, a decreased ability to sweat (hypohidrosis), cloudiness of the front part of the eye (corneal opacity), problems with the gastrointestinal system, ringing in the ears (tinnitus), and hearing loss
HOW IS FABRY DISEASE DIAGNOSED?
The diagnosis of Fabry disease is frequently made by physicians who recognize the pain in the extremities, absent or decreased sweating (anhidrosis or hypohidrosis), typical skin lesions (angiokeratoma), gastrointestinal abnormalities, corneal involvement, renal insufficiency, and heart symptoms present in childhood, adolescence or adulthood. The standard test to diagnose Fabry disease is a measurement of leukocyte alpha-Gal A enzyme activity. This test can detect the presence of the mutation for Fabry disease in males.
HOW IS FABRY DISEASE TREATED?
Enzyme replacement therapy is one of the treatment methods for Fabry Disease. This is however a very costly treatment method
DID YOU KNOW?
Fabry Disease is also known as a storage disorder.