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Intermittent claudication unmasking underlying Fabry's disease.

Abstract
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.
AuthorsE J Diamantopoulos, E A Andreadis, C V Vassilopoulos, G E Marakomichelakis
JournalInternational angiology : a journal of the International Union of Angiology (Int Angiol) Vol. 21 Issue 2 Pg. 201-3 (Jun 2002) ISSN: 0392-9590 [Print] Italy
PMID12110785 (Publication Type: Case Reports, Journal Article)
Topics
  • Fabry Disease (complications)
  • Female
  • Heterozygote
  • Humans
  • Intermittent Claudication (etiology)
  • Middle Aged

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