Introduction. Thrombosis of different localization, including deep vein thrombosis (DVT) and pulmonary embolism (PE) as a manifestations of venous thromboembolism (VTE), are among the most common diseases resulting in disability and mortality. The existence of venous thrombosis requires the presence of several risk factors, acquired and genetic.
The objective of study was to evaluate the distribution of inherited risk factors of thrombophilia in patients with thrombosis.
Methods. We studied 63 patients, mainly of young and middle age (33.35±10.77), with thrombosis of different localization and 225 healthy individuals (control group), inhabitants of the western region of Ukraine. In all subjects factor V 1691G/A, factor II 20210G/A, and MTHFR 677C/T and 1298A/C were determined by polymerase chain reaction-restriction fragment length polymorphism method.
Results. The prevalence of heterozygotes and homozygotes for FV 1691G/A and FII 20210G/A among patients and controls were: 16% (one subject was homozygous) versus 3% and 6% versus 2%, respectively (p<0.05); 3% of patients were carriers for both mutations simultaneously (compound heterozygotes). The prevalence of homozygotes for MTHFR 677TT genotype in patients group was 17 and 5% in controls (p<0.05). A significant association between VTE and studied mutations was established. The results indicate that the risk of thrombosis is 6-fold higher in carriers of FV 1691G/A mutation (OR=6.05; p=0.0003), 5-fold higher in the presence of FII 20210G/A mutation (OR=4.88; p=0.044) and 4-fold higher in the case of MTHFR 677TT genotype (OR=4.02; p=0.01).
Conclusions. Obtained results showed a higher prevalence and positive association between inherited risk factors of thrombophilia among patients with thrombosis. High frequency of association between studied inherited risk factors supports the recommendation of molecular genetic testing of factor FV 1691G/A, FII 20210G/A and MTHFR 677C/T loci in patients with thrombosis.