# Investigation of the relationship between venous thromboembolism and thrombophilic variants

## TL;DR

This study explores how genetic risk factors influence the occurrence of venous thromboembolism in patients, focusing on mutations like Factor V Leiden and plasminogen activator inhibitor.

## Contribution

The study provides new insights into the prevalence of thrombophilic variants in Turkish patients with venous thromboembolism.

## Key findings

- Plasminogen activator inhibitor 4G/5G was most common in both deep venous thrombosis and pulmonary embolism groups.
- Factor XIII V34L showed high frequency in both patient groups.
- Factor II G20210A heterozygosity was the least common in both groups.

## Abstract

Venous thromboembolism could be manifested as deep venous thrombosis or pulmonary embolism. The aim of this study was to assess the impact of genetic risk factors including prothrombin 20210, Factor V Leiden, plasminogen activator inhibitor 4G/5G, and Factor XIII V34L on the occurrence of venous thromboembolism in patients.

This study was conducted on 128 patients with deep venous thrombosis and 84 patients with pulmonary embolism. The diagnosis of venous thromboembolism was based on the patient's history, clinical findings, and D-dimer and confirmed by Doppler ultrasonography or computed tomography angiography. After confirmation of venous thromboembolism diagnosis, both groups were assessed for the four abovementioned mutations.

The majority of deep venous thrombosis patients were much younger than pulmonary embolism patients, with a median age of 51.7 years. It was observed that plasminogen activator inhibitor 4G/5G was most commonly represented in the deep venous thrombosis (44.5%) group, followed by the pulmonary embolism (44.0%) group. The second-highest frequency of Factor XIII V34L was observed in the deep venous thrombosis (28.1%) and pulmonary embolism (32.1%) groups. Factor V Leiden heterozygosity was also common in the deep venous thrombosis (18.0%) and pulmonary embolism (27.4%) groups. We found that coagulation factor II (FII) G20210A heterozygosity was the least in the deep venous thrombosis (10.9%) and pulmonary embolism (9.5%) groups.

To date, only a few studies have been thrombophilia parameters associated with venous thromboembolism, particularly Factor XIII V34L, in Turkish population with venous thromboembolism patients. Our findings suggest that genetic risk factors play a role in the formation of venous thromboembolism.