Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options

J Dtsch Dermatol Ges. 2007 Jul;5(7):594-7. doi: 10.1111/j.1610-0387.2007.06334.x.
[Article in English, German]


A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history revealed anhidrosis, acral paresthesias, myocardial infarction, phlebothrombosis, hypertension, antithrombin III deficiency, factor V Leiden disease, chronic obstructive lung disease, tinnitus, diarrhea, recurrent abdominal pain, headache, and depressive mood. He was treated with intravenous substitution of the deficient enzyme alpha-galactosidase A. Possible future options in treatment of Fabry disease are discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Fabry Disease / drug therapy*
  • Fabry Disease / pathology*
  • Humans
  • Male
  • Treatment Outcome
  • alpha-Galactosidase / therapeutic use*


  • alpha-Galactosidase