The role of prothrombotic mutations in patients with Buerger's disease

Thromb Res. 2000 Nov 1;100(3):143-7. doi: 10.1016/s0049-3848(00)00310-8.

Abstract

Thromboangiitis obliterans (TAO), or Buerger's disease, is a segmental occlusive inflammatory disorder of the arteries and veins, and etiopathogenesis is still obscure. In the present study we investigated the prevalence of prothrombin 20210 G-->A, factor V 1691 G-->A (Factor V Leiden), and factor V 4070 A-->G (His 1299 Arg) mutations, found to be associated with increased risk for vascular thrombosis, in 36 patients with TAO. We performed a case-control study of these mutations. The odds ratio for prothrombin 20210 A allele compared with G allele was 7.98 (95% confidence intervals 2. 45-25.93). Only this prothrombotic genetic factor was associated with the risk of TAO (p=0.032). In conclusion, carrying the prothrombin 20210 G-->A may be an important prothrombotic risk factor of TAO. This genetic predisposition must be screened in these patients routinely, and clinical importance must be supported by further investigations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Case-Control Studies
  • Factor V / genetics
  • Female
  • Genotype
  • Humans
  • Male
  • Point Mutation
  • Prevalence
  • Prothrombin / genetics
  • Risk Factors
  • Thromboangiitis Obliterans / epidemiology
  • Thromboangiitis Obliterans / genetics*
  • Thrombophilia / epidemiology
  • Thrombophilia / genetics*

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin