[Thrombophilia and HELLP syndrome in pregnancy - case report and overview of the literature].

Thrombophilia is a prothrombotic state that can be caused by genetic disorders, such as the factor-V-Leiden or prothrombin mutation, as well as by acquired changes like oestrogen-induced APC resistance and the antiphospholipid syndrome. Pregnancy induces multiple procoagulant changes in the haemostatic system, increasing the risk of venous thromboembolism in women with a thrombophilia even further. Additionally, thrombophilias are suggested to be associated with a number of pregnancy complications such as recurrent miscarriage, stillbirth, preeclampsia and HELLP syndrome. Increased local activation of coagulation may directly influence trophoblast expansion and invasion, causing thereby an impaired trophoblast development and insufficient widening of spiral arteries in the first trimenon, which results in placenta-mediated pregnancy complications like preeclampsia or HELLP syndrome. Besides, macro- and microthrombosis in the vessels of placental stemm villi and spiral arteries may lead to multiple infarctions with release of necrotic trophoblast fragments and inflammatory cytokines playing an important role in the pathogenesis of recurrent pregnancy loss and stillbirth. For women with a known thrombophilia it is recommended to carry out either only postpartal or combined ante- and postpartal thrombosis prophylaxis with low-molecular weight heparins (LMWH) depending on the individual risk stratification. The effectiveness of the LMWH administration for prevention of thrombophilia-induced pregnancy complications and improvement of the pregnancy outcome is currently a matter of debate. Furthermore, an additional application of acetyIsalicylic acid (ASA) should be considered in the management of women with the antiphospholipid antibody syndrome. In the current article we present the case of a 28-year-old woman with the heterozygous prothrombin mutation, HELLP syndrome, a late miscarriage and a stillbirth in the anamnesis, who delivered 3 healthy babies under antenatal LMWH prophylaxis combined with intensive interdisciplinary prenatal care. © Georg Thieme Verlag KG Stuttgart · New York.