Prothrombin gene 20210 G -> A and Factor V Arg 506 to Gln mutation in a patient with Buerger's disease - A case report

Thromboangiitis obliterans, or Buerger's disease, is a segmental occlusive inflammatory disorder of the arteries and veins most commonly affecting the lower extremities of young male cigarette smokers. The etiopathogenesis of the thromboangiitis obliterans is still obscure. The authors have identifi ed heterozygosity for the recently described prothrombin gene 20210 G-->A v ariation and Factor V Arg 506 to Gin (Factor V Leiden) mutation in a patien t with Buerger's disease. Both mutations confer a high risk of thrombosis. This coincidental observation may serve as further evidence that a thrombot ic mechanism is involved in Buerger's disease.