Fabry Disease - Symptoms

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What were the symptoms associated with Fabry disease in you or your child?

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What are the symptoms of Fabry disease?

Some women who carry the genetic mutation may have symptoms of the disease. Symptoms usually begin during childhood or adolescence and include:

  • burning sensations in the hands that gets worse with exercise and hot weather, and
  • small, raised reddish-purple blemishes on the skin.

Some boys will also have eye manifestations, especially cloudiness of the cornea. Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively involved.

Other symptoms include:

  • decreased sweating,
  • fever, and
  • gastrointestinal difficulties, particularly after eating.

Fabry disease is one of several lipid storage disorders.

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See what others are saying

Comment from: Family With Fabry, 35-44 Female (Patient) Published: November 01

My father died at 42 from a kidney problem, he suffered from all kind of sickness his whole life. We just thought he had bad luck. His mom died at 32 in a wheelchair, from severe arthritis. We are 5 sisters and the older one got a brain clog and lost motion in half of her body including her eye. We all suffered from pain in feet and hands when we were children, until we reached our 30s. Three of my sisters' sons experienced the same pain and they are all teenagers. One of them start searching the web for the cause of our sickness and he discovered we have something called Fabry disease. He was diagnosed by a test on his eyes and he is receiving treatment every two weeks and he feels a lot better he can almost have a normal life. We all know now that we have to get tested for the sickness but insurance won't pay for it.

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