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ULTIMO FASCICOLOINTERNATIONAL ANGIOLOGY

Rivista di Angiologia


Official Journal of the International Union of Angiology, the International Union of Phlebology and the Central European Vascular Forum
Indexed/Abstracted in: BIOSIS Previews, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
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International Angiology 2002 Giugno;21(2):201-3

 CASE REPORTS

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

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.

lingua: Inglese


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