Fabry disease

Fabry disease is an inherited disorder that results from the buildup of a 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 or streaks in the front part of the eye (corneal opacity or corneal verticillata); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Additional signs and symptoms are possible, which can vary among affected individuals.

Fabry disease also involves potentially life-threatening complications such as progressive kidney failure, heart failure, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and typically involve only the heart, kidneys, or blood vessels in the brain.

Other names

Alpha-galactosidase A deficiency; Anderson-Fabry disease; Angiokeratoma corporis diffusum; Angiokeratoma diffuse; Ceramide trihexosidase deficiency; Fabry's disease; GLA deficiency; Hereditary dystopic lipidosis

Inheritance pattern

X-linked

Related genes

GLA

Source: MedlinePlus Genetics, U.S. National Library of Medicine.