Case Report

Risk-Factor Profile in Severe, Generalized, Obliterating Vascular Disease

Authors: Josef Finsterer, MD, PHD, Astrid Dossenbach-Glaninger, MD, Walter Krugluger, MD, Claudia Stöllberger, MD, Piere Hopmeier, MD, PHD

Abstract

A 74-year-old woman had a history over 25 years of endarterectomy of both renal arteries, iliac venous thrombosis, pulmonary embolism, left internal carotid artery endarterectomy, coronary angioplasty, aortocoronary bypass grafting, occlusion of the right axillary artery, lower-limb claudication due to common iliac artery aneurysm, external iliac artery stenosis, multiple femoral artery stenoses, bifurcational stent grafting, occlusion of the left brachial artery and the right external iliac artery, and stroke. Assessment of the risk-factor profile revealed an absence of classic risk factors but the presence of the factor V Leiden mutation, the methylenetetrahydrofolate reductase AI298C mutation, the HFE C282Y mutation, plasminogen activator inhibitor-1 gene mutation, the −455 G/A fibrinogen gene polymorphism, the ε3/ε4 apolipoprotein E −675 4G gene polymorphism, and hyperhomocysteinemia. This case shows that severe, generalized, occlusive vascular disease may be due to the combination of various genetic risk factors for atherosclerosis and venous thromboembolism.


Obliterating vascular disease (OVD) is a major cause of morbidity and mortality in the industrialized world. OVD may affect either arteries (atherosclerosis/thrombosis; cerebral, coronary, and peripheral arterial occlusive disease) or the venous system (venous thromboembolism). 1 The development of OVD involves complex interactions between environmental and genetic risk factors. 2,3 Abnormalities of hemostasis and lipid metabolism may play key roles in the pathogenesis of OVD. 4–6 In the following report, we evaluate the risk-factor profiles for both atherosclerosis/thrombosis and venous thromboembolism in a patient with severe, generalized OVD.

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