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Doctor insights on: Fabry Disease

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Dr. Raymond Kwong
77 doctors shared insights

Fabry Disease (Overview)

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 the fatty deposits form.


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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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Dr. Raymond Kwong
77 doctors shared insights

Fabry Disease (Overview)

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 the fatty deposits form.


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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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Living with Addison's Disease (Checklist)

Wear a medic alert
Once
Take additional hydrocortisone/prednisone for fever or injury
Once
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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 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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I would like to know which chromosome is affected in fabry disease?

I would like to know  which chromosome is affected in fabry disease?

Fabry Disease: Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. If you search the Web there are many resources available to get more information on this disorder ...Read more

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Does any one know about fabry disease treatment?

Does any one know about 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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Living with Sickle Cell Disease (Checklist)

Keep doctor's appointments
Once
Go to lab appointments
Once
Keep oxygen up by maintaining low weight, no smoking
Once
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What are the advantages and disadvantages of different treatments for fabry disease?

What are the advantages and disadvantages of different treatments for fabry disease?

Few available: Treatment for this inherited disease of alpha-galactosidase deficiency is an enzyme infusion available from two sources at a very expensive cost. This is not a cure but will attentuate the symptoms and allow a mostly normal lifestyle. ...Read more

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