Media resources and videos of Fabry disease

  • What is Fabry Disease?

    Fabry disease is an inherited disorder that results from the buildup of a particular 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. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.    

  • Impact of Fabry Disease on the Heart & Kidneys

    This video explains how Fabry disease affects the heart and kidneys. Heart disease and kidney failure are both major causes of premature death in patients with Fabry disease. Accumulation of globotriaosylceramide (Gb3) in heart tissues leads to structural and functional changes in the heart while Gb3 storage in the kidney leads to progressive worsening of kidney function and end-stage kidney disease. This video demonstrates how heart and kidney disease affect each other and why an understanding of this complex interplay is central to improving patient outcomes. Fabry Disease