Trusted Information on Fabry disease

Fabry disease is a genetic condition that causes a narrowing of blood vessels in the body. Fabry disease leads to slowly worsening health issues and impacts the skin, nerves, kidneys, heart, and other body parts in both men and women. Fabry disease occurs when an individual has a disease-causing change or mutation in the GLA gene resulting in the body making too little of a specific enzyme called alpha-galactosidase A. If there is not enough of this enzyme, then the body is unable to breakdown certain large molecules such as globotriacylceramide (GL-3) and so they build up in the cells that form blood vessels and other parts of the body. This build up narrows the blood vessels, interferes with cell function, and causes cells to send out distress signals to the immune system.

Fabry disease health issues can start at any age but based on the timing of when symptoms begin and the combination of the medical issues it is divided into 2 types: Classic Fabry disease and non-classic or later onset Fabry disease.

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