Fabry disease is a rare genetic disorder that prevents the body from making an enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down a type of fat called globotriaosylceramide (Gb3 or GL-3) into building blocks that the body’s cells can use.
When these fat molecules are not broken down due to lack of alpha-galactosidase, they build up inside the cells and cause damage. The disease has a wide range of symptoms, including life-threatening ones such as heart attack, stroke, and kidney disease. But children with Fabry disease often live into adulthood and can have a good quality of life with the proper care.
Symptoms of Fabry disease
Fabry disease can have many symptoms because it affects cells throughout the body. The symptoms include:
- Chronic pain — usually a burning or tingling sensation — in the hands and feet. The pain sometimes briefly becomes more intense, requiring medication to bring it down to manageable levels. The pain can go away in adulthood.
- Clusters of small, dark red spots in various locations on the skin.
- Opaque corneas, resulting in cloudy-looking eyes and problems with eyesight.
- Ringing in the ears, and hearing loss.
- Kidney damage, which worsens over time, becoming serious.
- Increased risk of life-threatening heart attacks and stroke.
- A variety of gastrointestinal problems.
- A decreased ability to sweat.
These symptoms usually appear in infancy or childhood, though in rarer mild cases they will begin in adulthood and be less severe.
Cause of Fabry disease
Fabry disease is caused by a mutation of the GLA gene, which encodes for the alpha-galactosidase A enzyme. The mutation usually makes the enzyme unable to function, although in mild cases, it may function to some degree.
The disease is inherited in an X-linked dominant manner, which means that the gene involved is situated on the X chromosome.
Because women have two X chromosomes, they usually have a milder form of the disease or, in rare cases, no symptoms at all. But there is a 50 percent risk of a woman passing a mutated gene onto their children. A son who inherits a mutation will develop the disease, since he will not have a second X chromosome that could compensate for the mutation.
In contrast, all of the daughters of a man with Fabry disease will inherit it, while none of his sons will.
Diagnosis of Fabry disease
At first, Fabry disease can resemble normal growing pains or arthritis, but other symptoms start to appear with time.
Fabry can be confirmed with a test measuring levels of alpha-galactosidase. If doctors find low levels of the enzyme, they may ask for genetic testing for the mutated GLA gene. Genetic testing may also be recommended for close family members who do not show any symptoms.
Treatment of Fabry disease
For the most part, treatment of Fabry disease focuses on medications that improve the patient’s quality of life. Pain relievers, including Tegretol and Dilantin, are used to combat episodes of intense pain. Gastrointestinal problems may be remedied with pancrelipase.
Other medications are used to prevent symptoms from becoming life-threatening. Heart and anti-clotting medications may be used along with pacemakers to prevent heart attacks. Angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) are used to combat kidney disease. In more advanced stages of kidney disease, dialysis or a kidney transplant are options.
Special diets that cut back on fats and salts may also be considered because they can reduce the intensity of some symptoms.
The U.S. Food and Drug Administration has approved enzyme replacement therapies that give patients forms of alpha-galactosidase, the enzyme they are missing. This treatment reduces symptoms and improves patients’ health. Researchers continue to study its long-term effects.
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