[Classical type of Fabry disease without angiokeratomas--a case report].
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.
Kudumija
Boris
B
Poliklinika za internu medicinu i dijalizu Avitum, Zagreb. bkudumija@avitum.hr
Mrsić
Mirando
M
Dits
Sonja
S
Matijević
Vesna
V
Thune
Sigmund
S
Bozina
Ksenija
K
D000328:Adult; D000794:Angiokeratoma / Q000150:complications; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D012878:Skin Neoplasms / Q000150:complications