Fabry’s Disease

What is Fabry’s Disease?

Fabry’s disease is also known as Anderson-Fabry disease, alpha-galactosidase A deficiency, and angiokeratoma corporis diffusum and is a rare genetic lysosomal storage disease that is inherited in an X-linked manner.  The disease causes a certain type of fatty substance to build up in the body that narrows blood vessels which can cause harm to skin, kidneys, brain, heart, and nervous system and is sometimes referred to as a storage disorder.

The condition can lead to more serious problems for men such as heart failure, an enlarged heart, increased risk of stroke or heart attack, kidney failure, and osteoporosis.  Fabry’s disease is estimated to affect 1 in 40,000 males and can be diagnosed using a test that measures leukocyte alpha-Gal A enzyme activity.  Men with Fabry’s disease have a life expectancy of 58 years while women with Fabry’s disease have a life expectancy of a little over 75 years.

What are the Symptoms of Fabry’s Disease?

Symptoms include cloudy vision, pain in the hands and feet that becomes worse with exercise, hearing loss, ringing in the ears, small dark red spots between the belly button and the knees, sweating less than normal, joint pain, mitral valve prolapse, and stomach pains and bowel movements following eating.

Fabry’s Disease Causes

Fabry’s disease is caused by a genetic disorder. This disease is classified as a type of lysosomal storage disorder. The enzymes that are supposed to help metabolize fat molecules aren’t present or are deficient, which causes the fatty molecules to build up. In Fabry’s disease, the enzyme that’s affected is the alpha-galactosidase, an enzyme which affects the function of the heart, skin, eyes, gastrointestinal system, kidney, brain and nervous system. The mutated gene is on the X chromosome, making males more susceptible to this disorder.

The reason men are more susceptible to this disorder is that they only have one X chromosome; women having two X chromosomes are less susceptible because the second X chromosome helps protect against the disease. If women do get this disorder, it’s usually less severe because of the second X chromosome. If a woman is carrying the defective gene, there’s a 50 percent chance she’ll pass it on to her children, male or female. If the father is carrying the gene, the female children will get the gene but the male children will not.

How is Fabry’s Disease Treated?

Treatment includes enzyme replacement therapy and medicine used to treat other symptoms of the disease. Enzyme replacement therapy replaces the enzyme that is missing or not working correctly so the body can break down fatty substances in the way that it’s supposed to.

Fabry’s Disease Prevention

There isn’t a prevention for this disease, but the symptoms can be treated to reduce the complications. One of the recommended treatments is enzyme replacement therapy. What this therapy does is replace the enzymes that are too small, helping the body function how it’s supposed to. Enzyme replacement therapy has been shown to stabilize hearing loss and improve nerve functioning.

The risk of major complications such as death, myocardial infarction, and stroke is reduced by 53 percent when enzyme replacement therapy is used. ACE/ARB inhibitors should be used to prevent complications due to renal disease and minimize proteinuria and albuminemia. Complications that occur before treatment is started are often irreversible, making early diagnosis vital to be able to continue living a healthy life.

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Last Reviewed:
October 05, 2016
Last Updated:
December 20, 2017
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