Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options.
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.
Möhrenschlager
Matthias
M
Department of Dermatology and Allergy Biederstein, Technical University of Munich, Germany. moehrenschlager@lrz.tum.de
Pontz
Bertram F
BF
Lanzl
Ines
I
Podskarbi
Theodor
T
Henkel
Verena
V
Ring
Johannes
J
D000328:Adult; D000795:Fabry Disease / Q000188:drug therapy* / Q000473:pathology*; D006801:Humans; D008297:Male; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000627:therapeutic use*
D000519:alpha-Galactosidase