title: Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion.
abstract: Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (alpha-galactosidase A deficiency). Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness may rise. A patient who was erroneously diagnosed with Fabry disease is presented.
authors.affiliation: Department of Internal Medicine/Clinical Hematology, Academic Medical Centre, Amsterdam, the Netherlands. g.e.linthorst@amc.uva.nl
authors.forename: G E
authors.initials: GE
authors.lastname: Linthorst
authors.forename: M A
authors.initials: MA
authors.lastname: De Rie
authors.forename: K H
authors.initials: KH
authors.lastname: Tjiam
authors.forename: J M F G
authors.initials: JM
authors.lastname: Aerts
authors.forename: K P
authors.initials: KP
authors.lastname: Dingemans
authors.forename: C E M
authors.initials: CE
authors.lastname: Hollak
mesh_terms: D000794:Angiokeratoma / Q000175:diagnosis* / Q000473:pathology; D001706:Biopsy; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D000795:Fabry Disease / Q000175:diagnosis* / Q000473:pathology; D006391:Hemangioma / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000473:pathology