Article: Fabry's disease

Fabry's disease (also known as Anderson-Fabry disease, Angiokeratoma corporis diffusum, and Ceramide trihexosidosis) is a rare, X-linked inherited lysosomal storage disease. A deficient enzyme (alpha galactosidase A) causes a glycolipid (ceramide trihexoside) to accumulate in blood vessels and other tissues and organs, impairing their function.

Symptoms

Some of the pathological symptoms includes skin lesions, episodes of fever, and burning in extremities. Skin lesions are painless elevated papules that appear all over the body. Ocular involvement may present showing vortex keratopathy. Death in early adulthood usually due to renal failure because of proteinuria induced hypertension. Other symptoms include inability to sweat, rashes, fatigue, vomitting and diarrhea.

Treatment

Treatment of Fabry's disease until recently was just symptomatic. This is changing with the drugs Agalsidase alpha (Replagal) and Agalsidase beta (Fabrazyme®). Problematic is that the cost of the drugs (approximately $170,000 US a year/patient) remains a barrier to many patients in some countries. Enzyme replacement therapy may be used (sometimes twice a week for the rest of the patient's life) which may be performed in the patient's home by the patients themselves.