title: [Classical type of Fabry disease without angiokeratomas--a case report].
abstract: A patient with classical type of Fabry disease is described. The appearance and character of neuropathic pain during hemodyalisis is described. Characteristic changes in head shape and changes of hands and fingers are the additional phenotypic characteristics of Fabry disease. Enzyme replacement therapy administered in the early phase of the disease could prevent disease complications and early patient's death.
authors.affiliation: Poliklinika za internu medicinu i dijalizu Avitum, Zagreb. bkudumija@avitum.hr
authors.forename: Boris
authors.initials: B
authors.lastname: Kudumija
authors.forename: Mirando
authors.initials: M
authors.lastname: Mrsić
authors.forename: Sonja
authors.initials: S
authors.lastname: Dits
authors.forename: Vesna
authors.initials: V
authors.lastname: Matijević
authors.forename: Sigmund
authors.initials: S
authors.lastname: Thune
authors.forename: Ksenija
authors.initials: K
authors.lastname: Bozina
mesh_terms: D000328:Adult; D000794:Angiokeratoma / Q000150:complications; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D012878:Skin Neoplasms / Q000150:complications