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Therapeutic Areas

Fabry Disease

Fadel For Fabry Disease

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.


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.

NationalFabryDiseaseFoundation National Fabry Disease Foundation (NFDF)

Organization dedicated to supporting the Fabry disease community and promoting advocacy for its issues.

FabryInternationalNetwork Fabry International Network

Our primary aim is to facilitate collaboration between Patient Organisations to support those affected by Fabry Disease.

FabrySupportInformationGroup Fabry Support & Information Group (FSIG)

A nonprofit organization whose mission is to raise Fabry awareness by linking patients and family members/caregivers.

EURORDIS Voice of Rare Disease Patients in Europe

A non-governmental patient-driven alliance of 606 rare disease patient organizations in 56 countries.

NORD National Organization for Rare Disorders

Federation of health organizations dedicated to helping people with rare diseases.

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

For US Residents


For Non-US Residents


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