Pregnancy outcomes in a patient-heterozygous carrier of R506Q mutation of factor V (Leiden)

The aim was to review currently available evidence on the association between thrombophilia and adverse pregnancy outcomes. Maternal thrombophilia has recently been identified as a major cause of thromboembolism, placental thrombosis and adverse pregnancy outcome including severe preeclampsia, placental abruption, intrauterine growth retardation, recurrent pregnancy loss, and stillbirth. The relatively high prevalence of thrombophilia defects in the general population and the association with adverse maternal and fetal outcomes have prompted obstetricians to focus their interest on this area. We focused on genetic thrombophilias (factor V Leiden mutation) and its possible impact on severe preeclampsia, placental abruption and intrauterine fetal death. A 39-year-old patient was regularly treated at our Department. Her mother had placental abruption and deep venous thrombosis of lower extremities in medical history. Our patient was suffering from multiple sclerosis from 1990. Until this pregnancy she had been pregnant for six times and had delivered one healthy child. She had four cesarean sections, one for preeclampsia (live-born infant died three days after birth), two for placental abruption (both stillbirths), one spontaneous abortion and one artificial abortion. Having in mind her family and medical history, we focused on genetic thrombophilia. Using the PCR-method we identified activated protein C resistance due to factor V Leiden mutation. The patient was treated by low-molecular weight heparin. A healthy infant was born by cesarean section after 37 weeks of gestation. Therapy with low-molecular weight heparin continued for ten days postpartum.