Genetic Variants and Biochemical Parameters Associated with the Risk for Venous Thromboembolism in a Romanian Cohort

Abstract

Thrombophilia can be defined as a predisposition to form clots inappropriately. We studied the carrier status for thrombophilia-related genetic variants in a cohort of 237 Romanian patients who were referred to Synevo Romania between January 2021 and April 2021. Two groups of patients consisting of 117 subjects were evaluated for the underlying causes of a VTE (venous thromboembolism) - group A and group B, consisting of 120 patients with no thromboembolic events. All patients were screened for PC, PC, AT-III, FVL, FII, and MTHFR. The presence of thrombophilia was compared between groups. Out of the 117 patients in group A, 113 (96.58 %), revealed at least one of the analyzed mutations, while just 4 (3.41 %) there were no identified mutations; in comparison, the mutation carrier/non-carrier ratio in group B was 104 patients (86.67%) and 16 (13.33%), respectively. The prevalence of FVL and FII mutation in group A, 21/117 (17.94%) heterozygous and 17/117 (14.53%) heterozygous, respectively, was notably higher when compared to 10/120 (8.33%) FVL heterozygous and 6/120 (5%) FII heterozygous in group B (p=0.034 and p=0.0156). The prevalence of inherited natural anticoagulants was comparable between groups with no statistically significant difference (p=0.6592, p= 0.0992, p= 0.6809).