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Doctor insights on: Angiokeratoma Corporis Diffusum Universale

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I'm curious. What symptoms go along with fabry disease?

I'm curious. What symptoms go along with fabry disease?

Many: Fabry's is an inherited deficiency of alpha-galactosidase metabolism, more common in males but rare overall. The most common findings are angiokeratomas of the skin, peripheral pain in the extremities, and corneal deposits (vortex) which occasionally diminish vision but do not lead to blindness. There are a lot of gi, heart and other problems. A pricey enzyme is available for treatment. ...Read more

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Dr. Raymond Kwong
77 doctors shared insights

Fabry Disease (Definition)

Fabry disease is an inherited condition caused by abnormal deposits of a specific fatty substance in blood vessels and various organs of the body. Symptoms are broad and vary depending on where ...Read more


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What is fabry disease?

What is fabry disease?

A genetic disorder: Fairy is an x- linked metabolic disorder due to a deficiency of an enzyme(galactosidase a). So a compound of suger and fatty acid which is usually breaks down by the enzyme in normal people will accumulate in blood vessels and organs of the affected person and cause symptom off pain, fatigue, dark red skin rash(angiokeratomas) and it slowly progresses to kidney, heart and neurological problem. ...Read more

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What can I expect after being diagnosed with fabry disease?

What can I expect after being diagnosed with fabry disease?

Fabry disease: This is a rare form of sphingolipidosis (dysfunctional metabolism of sphingolipids) due to deficiency of Alpha galactosidase enzyme a , leading to accumulation of the lipid in different organs. It presents as pain, kidney failure, hypertension, cardiomyopathy, neuropathy, fatigue, skin & eye lesions. Life expectancy is 40-60 years. ...Read more

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What are the symptoms of fabry disease?

What are the symptoms of fabry disease?

Fabry disease: This is a rare form of sphingolipidosis (dysfunctional metabolism of sphingolipids) due to deficiency of Alpha galactosidase enzyme a , leading to accumulation of the lipid in different organs. It presents as pain, kidney failure, hypertension, cardiomyopathy, neuropathy, fatigue, skin & eye lesions. Life expectancy is 40-60 years. ...Read more

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Does fabry disease affect only males?

Not always: The mutation is carried on the x-chromosone. Men have one y and one x chromosome, therefore they tend to express the gene product. Women have two x chromosomes, so it depends on which x chromosome becomes more active. In some unlucky women, they can express the full blown symptoms of fabry's disease. There are also some special cases of xy women out there, they would be likely to have symptoms. ...Read more

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Is there a cure fabry disease?

Is there a cure fabry disease?

Not yet: Hang in there, recent research suggests some amazing breakthroughs are on the way. Google the disease and contact the major research centers. ...Read more

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What sort of disorder is fabry disease?

What sort of disorder is fabry disease?

Fabry 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, non-cancerous, raised reddish-purple blemishes on the skin. Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. More at: http://www.Ninds.Nih.Gov/disorders/fabrys/fabrys.Htm. ...Read more

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What is fabry disease? Can someone tell me about fabry disease in spanish?

What is fabry disease? Can someone tell me about fabry disease in spanish?

Enfermedad de Fabry: Fabry's disease es una enfermedad genética la cual afecta el cromosoma X. Afects a los varones solamente tenemos un cromosoma X. Para que una mujer pueda tener síntomas ella recibiría dos cromosomas X de ambos padres afectados por la falta de un encimo llamado galactosidasa- alpha. Puedes obtener mas informacion en este sitio. http://www.genzyme.com.ar/thera/fz/gzla_p_tp_thera-fabrysigns.aspes ...Read more

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How many people have anderson-fabry disease?

Fabry: Incidence is 1 in 40, 000 to 1 in 120, 000 of live births for males. ...Read more