Discussions By Condition: Rare Disases

Fabry's Disease

Posted In: Rare Disases 4 Replies
  • Posted By: aperson
  • February 24, 2007
  • 10:16 PM

I have had longstanding problems with fatigue... and also mysterious gastrointestinal problems after I eat. Then sudden bowel movements that occur after eating on a regular basis... and also some unusual GI problems that accompany meals. I have been told this is due to different things... not quite sure I guess. Could this be Fabry's disease? How would I know for sure? What is the treatment for Fabry's? Please if you know write back!

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4 Replies:

  • Why do you think this is Fabry's disease? Is there a family history?Fabry's causes burning pain in the hands and feet; sometimes heart or kidney problems; and is often associated with distinct skin lesions.What you're describing doesn't sound like Fabry's. Ask your doctor.
    Anonymous 42,789 Replies
    • February 28, 2007
    • 04:44 PM
    • 0
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  • My husband has Fabry's disease. His two brothers do as well. Fabry's is caused by an enzyme deficiency. A simple blood test can tell if you suffer a lack of the enzyme in question. Do you have Fabry's disease is harder to answer. If your results are abnormal, then a blood sample can be taken and the blood is tested for all known genetic mutations that cause Fabry's disease. Getting tested for it is simple. Just contact Mt Sinai hospital in New York or look on FSIG web site for information. Fabry's Support and Information Group. If you are male and over the age of say 12 and do not experience the neuropathy pain in the hands and feet chances are unlikely that you have Fabry's disease its rare. My husband's GI problems are caused by a nerve issue from the Fabry's is treatable with a medication. If you have concerns talk to your doctor about testing for Fabry's. Good Luck.
    Anonymous 42,789 Replies Flag this Response
  • It could be Fabry Disease. You have to have an enzyme test to be checked for it. Also, pain in the hands and feet usually accompanies Fabry. However, there is a variant of the disease that seems to cause the symptoms to show up later in life. Also, there are distinct lesions on the trunk of the body, and typically also lack of sweating accompanies this disease. It can affect many organs in your body, and often goes undiagnosed, so it is well worth checking out.
    gemstone828 4 Replies Flag this Response
  • Please be aware that if you are a female, enzyme analysis is not a reliable method of determining if you have fabry's. In the past, females were considered to only be carriers, but through research over the past decade, it is now known that many, many females with the fabry's gene are symptomatic, sometimes having symptoms as severe as male fabry's patients. Females can have NORMAL enzyme levels, and still suffer from organ damage (and other things) due to the disease. Typically, male Fabry's patients have abnormal enzyme levels, but studies have shown that there is an atypical varient of the disease in which certain males have normal enzyme levels. You need genetic analysis to be checked for the chromosomal mutation. This can be done with a simple blood draw. As someone else said, contact the National Institute of Health, or you can also contact Emory Genetics in Decatur, GA. Also, not all people, male or female, will experience the same symptoms of this disease. Fabry's is a broad scope disease. Some escape the neuropathy in the hands and feet. I am female and I have Fabry's Disease. So do my father, my daughter, and my son. If you feel strongly that you could have Fabry's, I urge you to get yourself tested. The sooner the better. For more information, check out fabry.org. They have a wealth of information there, and a great discussion board for fabbers like myself. Good luck.
    fabrymother 1 Replies Flag this Response
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