Fabry disease
- Article
- 2021-03-09
Fabry disease (also called alpha-galactosidase A deficiency) is caused by a lack or defective enzyme needed to metabolize lipids, fatty substances such as oils, waxes and fatty acids. The mutated gene allows lipids to build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as respiration and digestion), the cardiovascular system, the eyes, and the kidneys. Symptoms usually begin during childhood or adolescence and can include:
- burning sensation in the arms and legs that gets worse with exercise and hot weather,
- small, benign, raised reddish-purple spots on the skin,
- clouding in the corneas,
- reduced blood circulation and increased risk of heart attack or stroke,
- enlarged heart,
- kidneys can become progressively weakened, leading to renal failure, and
- decreased sweating, fever and gastrointestinal problems.
Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the sex of the child and passes it on to her son). Boys have a 50 percent chance of inheriting the condition, and her daughters have a 50 percent chance of becoming carriers. A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the condition.
Therapy
Enzyme replacement therapy may reduce storage, relieve pain, and maintain organ function in some individuals with Fabry disease. Medicines are often prescribed to treat pain associated with Fabry disease, but not to treat the condition. The United States Food and Drug Administration has approved migalastat (Galafold) as an oral medication for adults with Fabry disease who have a certain genetic mutation. Platelet inhibitors can help prevent strokes, and medications that lower blood pressure can slow the decline in kidney function in people with Fabry disease.
Prognosis
People with Fabry disease often die prematurely from complications from strokes, heart disease, or kidney failure.
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