Clinical and laboratory manifestations of the prothrombin gene mutation in women of reproductive age

RESEARCH OBJECTIVE: To research the association of prothrombin (factor II) activity given the prothrombin G20210A mutation carriage with its clinical manifestations as thrombotic complications. MATERIALS AND METHODS: A prospective clinical cohort study of 290 women of reproductive age was conducted. Two cohort groups were identified: the study group of 140 patients with prothrombin mutation G20210A genotype and the control group of 150 women with G20210G genotype. RESULTS: The prothrombin G20210A mutation carriage is associated with the risk of thrombotic complications compared to the wild G20210G type (RR =17.1; p<0.0001) and is characterized by thrombosis localized both in the venous (66.7%) and arterial (33.3%) vascular pools. The threshold value of prothrombin activity (174.8%) for G20210A genotype was calculated, making it possible to conclusively predict the risk of thrombotic events with the accuracy of 90.4%. CONCLUSION: The phenotypic manifestation of the prothrombin G20210A mutation in the form of venous and arterial thromboses in women of reproductive age is associated with a super-threshold increase in prothrombin (factor II) activity, which makes it possible to stratify the patients into the group of high risk of thromboses.