This section is intended for health care professionals.
Fabry disease is a rare x-lined genetic disorder which is caused by a deficiency or lack of the enzyme alpha-galactosidase A (a-Gal A). Normally, this enzyme helps to break down and recycle a substance called globotriaosylceramide (Gb3). However, in people with Fabry disease, Gb3 builds up in cells of blood vessels, kidneys, brain, eyes and other organs.
The prevalence of Fabry disease is estimated to range from 1:17,000 to 1:117,000 males in Caucasian populations. Males with Fabry disease will always display the characteristic signs and symptoms of the condition. Even though Fabry disease is x-linked, females are also know to show symptoms. However there is a much more variable presentation of the disease with some developing symptoms similar in severity to affected males, others with a milder course and a later age of onset and others never developing symptoms at all.
Fabry disease does not affect everyone in the same way and the time of onset of symptoms can also be highly variable. Often the first symptoms of the condition are intense burning pain in the hands and feet, skin rashes called angiokeratoma, heat intolerance, gastrointestinal issues and fatigue. Often kidney, heart and brain problems occur between the ages of 30 to 45 years and it is not until this point that many patients are finally diagnosed due to the non-specific earlier symptoms associated with the disease.
Information on this website does not replace consultation with a physician or pharmacist.
Shire has developed the following resources to support disease awareness and education. Always speak with a physician or healthcare provider regarding any questions.