Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion.
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.
Linthorst
G E
GE
Department of Internal Medicine/Clinical Hematology, Academic Medical Centre, Amsterdam, the Netherlands. g.e.linthorst@amc.uva.nl
De Rie
M A
MA
Tjiam
K H
KH
Aerts
J M F G
JM
Dingemans
K P
KP
Hollak
C E M
CE
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