Summary
Homozygous carriers of factor V Leiden have an approximately 80-fold increased risk
of venous thrombosis. Also double heterozygous carriers of both the factor V Leiden
and the prothrombin gene mutations are at high thrombotic risk. The magnitude of the
risk of venous thrombosis in pregnant women with the two severe thrombophilic conditions
has not been estimated so far. We performed a multicenter retrospective family study
in women with homozygous factor V Leiden, double heterozygous factor V Leiden and
the prothrombin gene mutation, and women with normal coagulation. Only relatives of
index patients with thrombosis formed the study cohort. Fifteen homozygous and 39
double heterozygous women were compared to 182 women with normal coagulation. Venous
thrombosis occurred in 3 of 19, 2 of 50 and 1 of 221 pregnancies, respectively. One
thrombotic episode occurred in the third trimester, the remaining 5 in the postpartum.
The prevalence of venous thrombosis was 15.8% (95% CI 3.4-39.6) for homozygotes, 4.0%
(95% CI 0.5-13.7) for double heterozygotes and 0.5% for women with normal coagulation.
The relative risk of pregnancy-related venous thrombosis was 41.3 (95% CI 4.1-419.7)
for homozygous and 9.2 (95% CI 0.8-103.2) for double heterozygous carriers. In conclusion,
homozygous carriers of factor V Leiden and, to a lesser extent, double heterozygous
carriers of factor V Leiden and of the prothrombin mutation have an increased risk
of venous thrombosis during pregnancy, particularly high during the postpartum period.
On the basis of these findings we recommend that these women receive anticoagulant
prophylaxis at least in the postpartum, that should perhaps be extended to the whole
pregnancy in homozygous carriers.
Keywords
Coagulation - factor V Leiden - prothrombin mutation - pregnancy - puerperium
