What is Fabry Disease?

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body’s cells, called globotriaosylceramide or GL-3. 
Fabry disease affects many parts of the body. Signs and symptoms may 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); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.

This video explains that Fabry disease is a rare, inherited condition, caused by the lack of an enzyme, as a result of a genetic change on the X-chromosome. The video illustrates the inheritance patterns of Fabry disease and the wide range of physical signs and symptoms associated with the condition. Additionally, the video highlights that although there is no cure for Fabry disease, early diagnosis is essential to ensure timely treatment and management of the disease.