Genetic polymorphisms in venous thrombosis and pulmonary embolism after total hip arthroplasty: a pilot study

Clin Orthop Relat Res. 2009 Jun;467(6):1507-15. doi: 10.1007/s11999-008-0498-7. Epub 2008 Sep 18.

Abstract

Deep venous thrombosis (DVT) after major orthopaedic surgery is a substantial concern. We asked whether the single or combined presence of thrombophilic genetic polymorphisms might further increase the already high risk for venous thrombosis and pulmonary embolism (PE) after THA. We therefore compared the prevalence of factor V Leiden, prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, and plasminogen activator inhibitor 4G/5G polymorphisms between 50 patients with symptomatic DVT within 3 weeks after elective THA and an asymptomatic control group of 85 patients. We found no major difference for the presence of a single mutation between the groups. Factor V Leiden and homozygous MTHFR C667T mutations were of borderline significance with odds ratios (95% confidence intervals) of 3.73 (0.89-15.63) and 2.93 (0.92-9.29), respectively. Patients with homozygous or combined heterozygous status of MTHFR C677T and A1298C mutation had a higher frequency of DVT after elective THA (odds ratio, 2.86; 95% confidence interval, 1.32-6.35) than those with wild-type. The presence of a single mutation may not further increase the already high risk for symptomatic DVT after THA, whereas combinations of mutations of distinct polymorphisms might be important. However, prospective studies with a larger number of patients are needed before we would recommend preoperative screening.

Level of evidence: Level III, prognostic study. See the Guidelines for Authors for a complete description of levels of evidence.

Publication types

  • Multicenter Study

MeSH terms

  • Aged
  • Arthroplasty, Replacement, Hip*
  • Chi-Square Distribution
  • Factor V / genetics
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Mutation
  • Odds Ratio
  • Pilot Projects
  • Plasminogen Inactivators / genetics
  • Polymorphism, Genetic*
  • Postoperative Complications
  • Prothrombin / genetics
  • Pulmonary Embolism / genetics*
  • Retrospective Studies
  • Statistics, Nonparametric
  • Venous Thrombosis / genetics*

Substances

  • Plasminogen Inactivators
  • factor V Leiden
  • Factor V
  • Prothrombin
  • Methylenetetrahydrofolate Reductase (NADPH2)