hrvatski

Nasljedna trombofilija uzrokovana genetskim mutacijama koagulacijskih čimbenika II i V u bolesnika oboljelih od tromboze

We determined the prevalence of factor V Leiden and of prothrombin G20210A mutations in two group of patients referred for suspected deep vein thrombosis (DVT) (n = 94) and arterial thrombosis (AT) (n=36). FVLeiden mutation was defined by the method of Bertina et al.(1994) and prothrombin mutation according to Poort et al.(1996).Based on the clinical presentation, the prevalence of factor V Leiden was 22.34 % ( OR=2.2, p<0, 001) in the 94 patients with DVT, and 19.44% (OR= 2.47, p<0.001) in patients with AT, compared with 5.45% in the control group (n=110), matched by sex and age. The prevalence of the prothrombin G20210A mutation did not differ among the control group and DVT patients (5.45% for controls, 4.26% for DVT). For the prothrombin G20210A mutation, statistically significant differences were found between the AT group and control group ( 6/36, 16.66% , OR=2.24, p<0, 01, versus 5.45%). Our data revealed that patients with DVT are more often affected by the factor V Leiden mutation. Statistically significant differences were observed between patients with AT and controls for the prothrombin G20210A mutation which indicated that the PT A20210 allele was an additional risk factor for AT in our population. By the analysis of acquired risk factors for thrombosis, we found that pregnancy/puerperium and substitute hormone therapy in menopausal women, if joined with hereditary thrombophilia, are the most frequent cause of venous thrombosis in female (FVLeden:10/28, 35.71%, OR=4.25, p<0.001 and 2/7, 28.57%, OR=5.8, p<0.001, respectively. The prevalence of both factors in DVT patients increases from 22.2% to 46.15% and to 61.54 %, depending of first, second and, next following episodes of thrombosis. In conclusion, carriers of both factor V Leiden and the G20210A prothrombin mutation have an increased risk of recurrent deep venous thrombosis after a first episode, and are candidates for lifelong anticoagulation .

Inherited trombophilia; coagulation factors II and V; trombosis

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