Abstract

Thromboangiitis obliterans, also known as Buerger's disease, is a cause of juvenile lower limb ischaemia. Buerger's disease is idiopathic and one of diagnostic criteria is the absence of atherosclerotic risk factors other than smok- ing. A possible involvement of thrombophilia has been investigated and the role of hyperhomocysteinemia is still matter of discussion. We describe 9 patients with Buerger's disease followed-up for the past 3 years. We found a significant in- crease in circulating homocysteine levels (mean: 31.6 in patients vs 8.2 μmol/L in control subjects). We also analyzed the C677T mutation of MTHFR; 5/9 Buerger's patients were heterozygotes and 4/9 homozygotes for the mutation as com- pared with 3 heterozygotes in the control group. Our data, although preliminary, suggest a possible role of homocysteine in the pathogenesis of Buerger's disease as one of the causes of endothelial dysfunction. The role of MTHFR C677T vari- ant must be further evaluated in larger trials involving patients with Buerger's disease.

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