Development of venous thromboembolism in patients with hereditary thrombophilic risk factors and evaluation of genetic and biochemical parameters affecting development of venous thromboembolism

  Medicine (other/miscellaneous) Epidemiology Genetics (clinical) Hematology Cardiovascular Surgery

  Ufuk Turan Kürşat Korkmaz, Ayhan Cetinkaya, Ahmet Yüksel, Yusuf Velioğlu, Erhan Renan Ucaroglu, Ali Osman Arslan, Kemalettin Erdem, Selma Düzenli, Bahadır Dağlar

Now published in Eurasian Journal of Medical Investigation doi: 10.14744/ejmi.2019.62618

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Abstract

Objective: To evaluate patients diagnosed with venous thromboembolism (VTE) in terms of hereditary thrombophilic risk factors and to assess genetic and biochemical factors affecting the development of VTE. Methods: A total of 60 patients diagnosed with VTE and 23 control subjects without VTE were retrospectively evaluated. The prevalence of thrombophilic risk factors and parameters such as demographic data, clinic follow up duration were examined with genetic, biochemical and radiological investigations. Results: In the study group, 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 deficiency was detected in 25 patients (41.7%), free Protein S deficiency was detected in 25 patients (41.7%) in the study group and 3 subjects (13.0%) in the control group, and this difference was statistically significant (p=0.023). Antithrombin III deficiency was detected in 1 patient (1.7%) in the study group. Elevated homocysteine was higher in the study group compared to the controls, and the difference was statistically significant (p=0.02). Pulmonary embolism was observed in 9 patients who developed VTE with 8 (22.9%) being female and 1 (4.0%) male, and there was a statistically significant difference in terms of PE between genders (p=0.044). Cancer association was found in 10 (16.7%) patients who developed VTE, and recurrence of VTE was found in 16 (26.7%) patients. Conclusion: Determination of hereditary risk factors in VTE patients, will provide family members who have hereditary risk factors, but yet did not suffer attack to be protected against thromboembolic attacks by taking simple measures against acquired factors.

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