High prevalence of inherited prothrombotic risk factors in 134 consecutive patients with von Willebrand disease

Am J Hematol. 2006 Jun;81(6):465-7. doi: 10.1002/ajh.20623.

Abstract

We screened 134 consecutive patients with von Willebrand disease (VWD) (106 type 1, 26 type 2, and 2 type 3 VWD) for the most important inherited prothrombotic risk factors. One hundred eight patients (80.6%) were positive for at least one of the prothrombotic risk factors screened for. A high prevalence of prothrombin G20210A (10.5%) and factor V Leiden (11.9%) mutations was found with allele frequencies of 5.2 and 6%, respectively. Three carriers of multiple prothrombotic gene mutations experienced a thrombotic event. Our study suggests that the recent evidence of an association between inherited thrombotic and hemorrhagic disorders also holds true in VWD patients.

MeSH terms

  • Adult
  • Factor V / genetics*
  • Female
  • Gene Frequency / genetics*
  • Hemorrhage / genetics
  • Humans
  • Male
  • Point Mutation*
  • Prevalence
  • Prothrombin / genetics*
  • Risk Factors
  • Thrombosis / genetics*
  • von Willebrand Diseases / genetics*

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin