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International Angiology 2002 June;21(2):201-3

Copyright © 2003 EDIZIONI MINERVA MEDICA

lingua: Inglese

Intermittent claudication unmasking underlying Fabry’s disease

Diamantopoulos E. J., Andreadis E. A., Vassilopoulos C. V., Marakomichelakis G. E.

4th Department of Internal Medicine, "Evangelismos" State General Hospital, Athens, Greece


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In a 53-year-old woman, admit­ted to our Department with leg pain, periph­er­al arte­ri­al occlu­sive dis­ease (PAOD) was diag­nosed. The ­absence of car­di­o­vas­cu­lar risk fac­tors in this mid­dle-aged woman, the unex­plained burn­ing pain dur­ing both ­effort and rest of the lower extrem­ities mim­ick­ing ­severe ische­mia, ­decreased sweat­ing and cold ­induced Raynaud’s phe­nom­e­non ­raised the sus­pi­cion of an under­ly­ing pre­dis­pos­ing dis­ease. The coex­is­tence of pain­ful acrop­a­res­the­sias, angio­ke­rat­o­mas, left ven­tric­u­lar hyper­tro­phy (LVH), cor­neal opac­ities and len­tic­u­lar ­lesions sug­gest­ed the diag­no­sis of Fabry’s dis­ease, which was con­firmed by low serum lev­els of a-galac­tos­i­dase-A activ­ity. This case, pre­sent­ed with inter­mit­tent claud­i­ca­tion due to gen­er­al­ized ath­ero­scler­o­sis, is quite unusu­al, since Fabry’s dis­ease rare­ly pro­duc­es symp­toms in ­female car­riers.

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