Fabry Disease

What causes Fabry disease?
Fabry disease is a genetic condition that results in reduced activity of an enzyme in the body called alpha-galactosidase A (alpha-Gal A). The purpose of alpha-Gal A is to break down a certain lipid, or fatty substance, called globotriaosylceramide (GL-3). When there is not enough a-Gal A, the GL-3 builds up in the body, especially in the vessels of the kidney, heart, nervous system and skin; this build-up causes the symptoms of Fabry disease.

What are the symptoms?
Classic Fabry disease symptoms generally start in childhood or teenage years; these include episodes of severe burning pain in the hands and feet, small red raised spots on the skin called angiokeratoma, a characteristic change in the cornea of the eye that does not affect vision (corneal whorling), gastrointestinal symptoms (diarrhea, bloating, pain), and decreased sweating. Adults with Fabry disease can develop heart disease, strokes, and kidney failure.

Some patients with Fabry disease have a milder form called, Later-Onset Fabry disease, which usually manifests in adulthood.

The symptoms in females with Fabry disease (also known as “heterozygotes”) are variable. Females may have mild disease or may be as severe as males. There is no way to predict the clinical picture in a female.

Is there any treatment?
Yes. There is an FDA-approved treatment for Fabry disease, which replaces the missing alpha-Gal A enzyme. This treatment is called enzyme replacement therapy (ERT) and is typically given by intravenous (IV) infusion every two weeks for life.

What is the prognosis?
Without treatment, patients with Fabry disease often die prematurely from heart disease, strokes, or kidney failure. Treatment is effective at reducing many of the symptoms of Fabry disease and slowing the progression of the disorder, especially if it is started early in childhood.

How is Fabry disease inherited?
Fabry disease is an inherited disorder. It follows an X-linked pattern of inheritance because the gene that makes alpha-Gal A is on the X chromosome. A chromosome is a package of genetic material, and humans have 23 pairs of chromosomes, which they inherit from their parents. The X-chromosome is one of the two chromosomes (X and Y) that determine an individual's sex. Males have one Y chromosome and one X-chromosome; for males with Fabry disease, the X-chromosome carries the defective a-Gal A gene. Females have two X chromosomes; for females with Fabry disease, one X-chromosome carries the defective a-Gal A gene and the other carries a normal, healthy a-Gal A gene. A male with Fabry disease will pass his X-chromosome with the defective alpha-Gal A gene onto each of his daughters, but to none of his sons. A female with Fabry disease has a 50% chance of passing the X-chromosome with the defective alpha-Gal A gene onto each of her children, both sons and daughters.

For more information, see: Genetics Home Reference; MedlinePlus

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