Fabry's disease (or Angiokeratoma corporis diffusum) is a lysosomal storage disease caused by deficient alpha galactosidase. more...
Some of the pathological symtoms includes skin lesions, febrile episodes, burning in extremities. Skin lesions are painless elevated papules that appear all over body. Ocular involvement may present and showing vortex keratopathy. Death in early adulthood usually due to renal failure because of proteinuria induced hypertension.
Treatment of Fabry's disease until recently was just symptomatic. This is changing with the drug Agalsidase beta (Fabrazyme®). Problematic is that the cost of the drug (approximately $170,000 US a year/patient) remains a barrier to many patients in some countries.
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