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.
Fabry disease affects approximately 1 in 117,000 in the general population. 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.
RESOURCES AND ORGANIZATIONS
The following organizations may be a resource for information and support for patients, families, and caregivers. Always speak with a physician or healthcare provider regarding any questions.
Fabry International Network
Our primary aim is to facilitate collaboration between Patient Organisations to support those affected by Fabry Disease.
Shire has developed the following resources to support disease awareness and education. Always speak with a physician or healthcare provider regarding any questions.
Fabry By The Numbers
Fabry Disease Infographic