Development of Venous Thromboembolism in Patients with Hereditary Thrombophilic Risk Factors and Evaluation of Genetic and Biochemical Parameters Affecting Development of Venous Thromboembolism

Abstract

Objectives: To evaluate patients diagnosed with venous thromboembolism (VTE) in terms of hereditary thrombophilicrisk factors and to assess genetic and biochemical factors affecting the development of VTE.Methods: Sixty patients with VTE and 23 control subjects without VTE were retrospectively evaluated. Prevalence ofthrombophilic risk factors and parameters like demographic data, clinical follow-up duration were examined with genetic, biochemical and radiological investigations.Results: Mutations were detected in the genes of Factor V Leiden in 37.4%, Factor II in 13.4%, Methylenetetrahydrofolate reductase C677 in 47.5%, Methylenetetrahydrofolate reductase A1298C in 53.3%, Plasminogen activator inhibitor-1 in 31.6%, Angiotensin converting enzyme in 39.0%, and Factor V H1299R in 8.3% of patients. Protein C deficiencywas detected in 25 patients (41.7%), free Protein S deficiency was detected in 25 patients (41.7%) in study group and 3subjects (13.0%) in control group, and this difference was statistically significant (p=0.023). Antithrombin III deficiencywas detected in 1 patient (1.7%) in study group. Elevated homocysteine was higher in study group compared to controls, and the difference was statistically significant (p=0.02).Conclusion: Determination of hereditary risk factors in VTE patients will provide family members who have hereditary risk factors, but did not suffer attack to be protected against thromboembolic attacks by taking simple measuresagainst acquired factors.