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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Medication Is Suggested For 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. an ultrasound 2 wks ago was negative. He is complaining of heaviness, aching, in both legs, but has discoloration on the inside of one ankle, and now has developed area of bruising about the size of a dollar on the inside of his thigh/groin. Our family dr is not very concerned/aggressive, saying IF he has one, it can be treated at home? so- I can't even get my husband to an ER now that this bruise UP HIGH has developed. Is this an emergency situation?
posted on Fri, 14 Mar 2014
Twitter Tue, 12 May 2015 Answered on
Twitter Wed, 13 May 2015 Last reviewed on
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General & Family Physician,  's  Response
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 deficiency of the enzyme Alpha galactosidase A.
Hence this makes Enzyme replacement therapy is the only FDA approved treatment for this disease . Kindly regularly take the enzyme shots on Out patient basis.
Since your husband is having these complaints of discolouration , he may need to be put on analgesics (relieve pain) and blood thinners.
Hence kindly take him to the ER before its becomes a more serious condition.

Thanks.
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What Medication Is Suggested For Fabry Disease?

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 deficiency of the enzyme Alpha galactosidase A. Hence this makes Enzyme replacement therapy is the only FDA approved treatment for this disease . Kindly regularly take the enzyme shots on Out patient basis. Since your husband is having these complaints of discolouration , he may need to be put on analgesics (relieve pain) and blood thinners. Hence kindly take him to the ER before its becomes a more serious condition. Thanks.