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Doctor insights on: Is It Safe To Fabry Disease

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Are there safe alternative therapies for fabry disease?

Are there safe alternative therapies for fabry disease?

Enzyme Replacement: Enzyme replacement therapy can reduce lipid storage, ease pain, and improve organ function. ...Read more

Dr. Raymond Kwong
77 doctors shared insights
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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 is fabry disease like?

What is fabry disease like?

Can be treated: Enzyme replacement therapy holds promise and has been fda approved. Symptoms begin during childhood and include burning sensations in the hands that gets worse with exercise and hot weather and small raised reddish-purple blemishes on the skin. Eye signs include cloudy cornea. Lipid storage may lead to poor circulation, increased risk of heart attack, stroke, kidney disease. ...Read more

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Fabry disease, what is this?

Fabry disease, what is this?

Fabry's disease: Fabry's disease results from abnormal deposits of a particular fatty substance (called globotriaosylcera-mide) in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme, Alpha galactosidase A, this is normally responsible for the breakdown of globotriaosylceramide. For more info see: http://www.fabry.org/fsig.nsf/pages/fabry ...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 is "anderson-fabry" disease?

What is "anderson-fabry" disease?

Same as Fabry: Still an inborn error of metabolism http://www.Ninds.Nih.Gov/disorders/fabrys/fabrys.Htm. ...Read more

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Does fabry disease affect only males?

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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What are the tests for fabry disease?

What are the tests for fabry disease?

Blood test: If the disease is suspected then the genetic tests can be done to look for the x linked galactosidase a enzyme deficiency. ...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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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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How many people have anderson-fabry disease?

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

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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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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 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 (ulipristal acetate) 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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What is fabry disease and do you now a site were I can contact some family with it?

What is fabry disease and do you now a site were I can contact some family with it?

Genetic fat storage: Fabry's disease is a lipid storage condition where the mother transmits it to sons. The lipids build up in the kidneys. Autonomic nerves, and eyes. http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm. ...Read more

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What is fabry disease treatment?

What is fabry disease treatment?

Fabry Disease Treatm: Treatment of fary disease is enzyme replacement therapy, but unfortunately it costs about 200000.00 us dollars per year and is not a cure but slows the progression of the disease and improves metabolism, and relieves some pain symptoms, but some patients need pain management, analgesics, anticonvulsants and non steroidal anti inflammatory drugs. ...Read more

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What are the treatments for fabry disease?

What are the treatments for fabry disease?

Fabry disease Tx: Enzyme replacement therapy and close followup with a regular doctor are the treatment for fabry disease. ...Read more

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