Fabry disease

What is Fabry disease?

Disease due to deficiency of α-galactosidase and characterized by abnormal accumulations of neutral glycolipids (globotriaosylceramide) in endothelial cells in blood vessel walls. Clinical findings include angiokeratomas on the thighs, buttocks, and genitalia; hypohidrosis; paresthesia in the extremities, cornea verticillata, and spokelike posterior subcapsular cataracts. Death results from renal, cardiac, or cerebrovascular complications; X-linked recessive inheritance caused by mutation of the α-galactosidase gene (GLA) on Xq.

Questions and answers on "Fabry disease"

my husband has fabry disease. he has had at least 3 episodes of blood clots- 2 as teenager, one 12 yrs ago, and now he is exhibiting signs again....

doctor1 MD

Hi,
Thanks for writing to HCM.
Fabry's disease is a storage disorder where in fatty substances keep accumalating in the body due to the genetic...

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We are a family with fabry disease, which is deficiency in Alpha- galactosidase A. I have persistant runny nose and skin patches that different...

doctor1 MD

I am glad that you have put up your query at HealthCareMagic. Fabry disease is a genetically transmitted rare disease characterised by the...

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I have an implanted morphine pump and am also taking dilaudid for my Fabry disease pain. If I run out of dilaudid, I get massive diarreha for days....

doctor1 MD

Hi and thanks for the query,

I think you need a proper clinical evaluation. Management of the pilonodal cyst takes lots of things into...

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