The prothrombin gene G20210A variant in an unselected thromboembolic population. A Belgian prospective clinical study.

The presence of the 20210A allele of the prothrombin gene has recently been shown to be a risk factor of venous thromboembolism, probably mediated thr ough increased prothrombin levels. The aim of the study was to determine th e frequency of the prothrombin 20210A allele in 193 consecutive unselected patients with venous thromboembolism and 100 healthy controls and to analyz e the clinical profile associated with this new inherited thrombophilic fac to;. In agreement with previous reports, we found a frequency of 7.3% of he terozygous carriers of the 20210A allele among patients and 1% among contro ls. We confirm that plasma prothrombin levels are more elevated in the indi viduals bearing the prothrombin 20210A allele compared with those who do no t. We did not find any relationship between the presence of the prothrombin 20210A allele and either a family history of thromboembolism, the rate of recurrences or the age at disease onset. However, the co-inheritance in the same individual of both prothrombin 20210A allele and factor V Leiden was associated with a significantly lower age at disease onset suggesting a syn ergistic contribution of both abnormalities.