What is Fabry?
What Is Fabry disease?
Fabry disease is a rare genetic condition. It 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. Reference: https://ghr.nlm.nih.gov/condition/fabry-disease
Fabry Australia ‘Understanding Fabry Disease’ Factsheet
Understanding Fabry Disease booklet was produced by Fabry Australia and reviewed by Fabry Australia’s Medical Advisory Committee. It is an excellent resource for explaining Fabry disease to a new diagnosed patient and their family and or friends. It is a helpful resource to show health professionals unfamiliar with Fabry Disease.