Lijecnicki vjesnik 2007;129(12)
CLASSICAL TYPE OF FABRY DISEASE WITHOUT ANGIOKERATOMAS – A CASE REPORT
Boris Kudumija, Mirando Mrsić, Sonja Dits, Vesna Matijević, Sigmund Thune, Ksenija Božina
Abstract
Summary. 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.