What is Fabry disease?
Fabry disease (also known as alpha-galactosidase-A deficiency) is an inherited neurological disorder that occurs when the enzyme alpha-galactosidase-A cannot efficiently break down fatty materials known as lipids into smaller components that provide energy to the body. The mutated gene allows lipids to build up to harmful levels in the body's autonomic nervous system (the part of the nervous system that controls involuntary functions such as breathing and heartbeat), as well as in the eyes, kidneys, and cardiovascular system.
Males are primarily affected, although a milder and more variable form is common in females. Onset of symptoms is usually during childhood or adolescence. Neurological signs include:
- Burning pain in the arms and legs, which worsens in hot weather or following exercise
- The buildup of excess material in the clear layers of the cornea (resulting in clouding but no change in vision)
- Impaired circulation that may lead to stroke or heart attack due to fatty storage in blood vessel walls
Other symptoms include:
- Heart enlargement
- Progressive kidney impairment leading to renal failure
- Gastrointestinal difficulties
- Decreased sweating
- Angiokeratomas (small, non-cancerous, reddish-purple elevated spots on the skin) may develop on the lower part of the trunk of the body and become more numerous with age
Enzyme replacement can reduce lipid storage, ease pain, and preserve organ function in some people with Fabry disease. Drugs are often prescribed to treat pain and gastrointestinal distress that accompanies Fabry disease but do not treat the disease. The U.S. Food and Drug Administration (FDA) has approved migalastat (Galafold) as an oral medication for adults with Fabry disease who have a certain genetic mutation. Anti-platelet medications can help prevent strokes and medications that lower blood pressure can slow the decline of kidney function in people with Fabry disease. Some individuals may require kidney transplants or dialysis.
How can I or my loved one help improve care for people with Fabry disease?
Consider participating in a clinical trial so clinicians and scientists can learn more about Fabry disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Fabry disease at Clinicaltrials.gov.
Where can I find more information about Fabry disease?
The following organizations offer information and other resources about Fabry disease and lipid storage diseases:
Fabry Support & Information Group
Genetics and Rare Diseases (GARD) Information Center
Hide and Seek Foundation for Lysosomal Storage Disease Research
National Fabry Disease Foundation