6533b831fe1ef96bd12982aa

RESEARCH PRODUCT

Inherited Thrombophilic Risk Factors and Venous Thromboembolism

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description

Study objectives To investigate whether the FIIA20210 mutation is associated with isolated pulmonaryembolism (PE). Design Case-control study. Setting Five thrombosis centers in southern Italy. Patients Six hundred forty-seven consecutive referredpatients with objectively documented venous thrombosis and 1,329control subjects. Measurements and results Medicalhistories were collected. The G-to-A transition at nucleotide 1691within the factor V gene (FV Leiden) and the G-to-A transition atnucleotide position 20210 within the prothrombin gene locus (FIIA20210), levels of anticoagulant factors, and levelsof antiphospholipid antibodies were determined by standard techniques.Patients with deep venous thrombosis (DVT) of the lower extremities(n = 346) or with additional PEs (n = 175) showed similarprevalences of FV Leiden mutation (24.3% and 16.6%, respectively) andFII A20210 mutation (14.2% and 12.6%, respectively), andsimilar deficiencies of natural anticoagulants (4.9% and 2.3%,respectively). In both groups, the frequencies of FV Leiden and/or FIIA20210 mutation were higher than those observed among 1,329apparently healthy control subjects (4.8% and 4.4%, respectively;p Conclusions FIIA20210 mutation is associated with DVT in the lowerextremities alone or when complicated by PE, but it is not associatedwith isolated PE.