Intermittent claudication unmasking underlying Fabry's disease
Diamantopoulos, E.J.; Andreadis, E.A.; Vassilopoulos, C.V.; Marakomichelakis, G.E.
International Angiology a Journal of the International Union of Angiology 21(2): 201-203
2002
ISSN/ISBN: 0392-9590 PMID: 12110785 Document Number: 545261
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.