Factor V Leiden: should we screen oral contraceptive users and pregnant women?

Abstract
The factor V Leiden mutation is the most common genetic risk factor for deep vein thrombosis: it is present in about 5% of the white population. The risk of deep vein thrombosis among women who use oral contraceptives is greatly increased by the presence of the mutation. The same seems to be true of the risk of postpartum thrombosis. Several authors have called for all women to be screened before prescription of oral contraceptives and during pregnancy. Such a policy might deny effective contraception to a substantial number of women while preventing only a small number of deaths due to pulmonary emboli. Moreover, in pregnancy the ensuing use of oral anticoagulation prophylaxis might carry a penalty of fatal bleeding that is equal to or exceeds the risk of death due to postpartum thrombosis. It might pay, however, to take a personal and family history of deep vein thrombosis when prescribing oral contraceptives or at a first antenatal visit to detect women from families with a tendency to multiple thrombosis. Our recent reports on an increased risk of venous thrombosis in women who use oral contraceptives and are also carriers of a thrombogenic mutation (factor V Leiden)1 2 prompted discussions about the possible benefit of screening for this coagulation defect before oral contraceptives are prescribed.3 4 5 6 7 8 Also, the spectre of screening in other risk situations, such as pregnancy, is being raised.5 9 We believe that some perspective on the epidemiological data is necessary. Venous thrombosis is a rare event, especially in young people, and, if limited to the limbs, is benign. By calculating back from a population based case-control study, we estimated that the incidence rate of venous thrombosis of the legs in women aged 15 to 49 years is 2.1 per 10 000 …