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 cant even get my husband to an ER now that this bruise UP HIGH has developed. Is this an emergency situation?
Hi, Thanks for writing to Chat Doctor. Fabrys disease is a storage disorder where in fatty substances keep accumulating 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 discoloration, 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.