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