Pregnancy-associated venous thromboembolism in combined heterozygous factor V Leiden and prothrombin G20210A mutations

Abstract

We describe a case of a pregnant woman who was found to be carrier of heterozygous factor V Leiden and prothrombin (FII) G20210A mutations. Five years before pregnancy she had had an episode of extensive deep venous thrombosis in the ileofemoral region, while using hormonal contraceptives. Anticardiolipin antibody (ACA), lupus anticoagulant and deficiencies of protein C, protein S and antithrombin III were evaluated by means of enzyme-linked immunosorbent assay (ELISA), dilute Russell Viper Venom time (dRVVT), coagulometric and chromogenic methods. Deoxyribonucleic acid (DNA) was amplified using the polymerase chain reaction (PCR) to study the factor V Leiden and G20210A mutations in the prothrombin gene and C677T mutation in the methylene tetrahydrofolate reductase (MTHFR) gene. In the sixth week of her first pregnancy, she developed another episode of deep venous thrombosis in the femoropopliteal veins of the right leg. She was treated with low-molecular weight heparin (nadroparin) until parturition (0.3 ml or 2,850 UI/day). The pregnancy evolved without any significant obstetric morbidity. The patient delivered a healthy baby by cesarean section. During the puerperium, she used prophylactic doses of nadroparin for (0.3 ml or 2,850 UI/day) six weeks and had no complications. We suggest that women who have an association of thrombophilia factors and a prior episode of venous thromboembolism must have antepartum anticoagulation management using unfractioned or low-molecular weight heparin and postpartum management using low-molecular weight heparin or oral anticoagulants. Anticoagulation is recommended during pregnancy because the real magnitude of the risk of major and life-threatening thromboembolic events in these women is unknown.

Thrombophilia and Pregnancy: Diagnosis and Management

“…International Society on Thrombosis and Hemostasis (ISTH) and other guidelines recommend dRVVT as the first choice to confirm the diagnosis of APS and an aPTT with low phospholipids and silica activator as second choice [50][51][52][53][54]. Vascular thrombosis is the diagnosis of one or more clinical episodes of arterial, venous, or capillary thrombosis in any tissue or organ.…”

“…Diagnosis of the antiphospholipid syndrome needs the existence of at least one clinical and laboratory criteria [50][51][52][53][54]. Anticardiolipin or lupus anticoagulants are found in two or more measurements of moderate or high levels of IgG-IgM antibodies for a period of at least 6 weeks.…”

“…In case of history with one or more unexplained endometrial deaths of normal morphological embryos from the 10th week of pregnancy or one or more premature births at week 34 and before or three unexplained consecutive abortions before the 10th week of pregnancy, anticardiolipin should be tested. As a consequence miscarriage is defined as the loss of three or more pregnancies before the 20th week of pregnancy [50][51][52][53][54].…”

Infertility and Inherited Thrombophilia

“…Obstetric care must be rigorous, since thrombophilia is known to be associated with an increased risk of complications during pregnancy such as preeclampsia, intrauterine growth restriction, placental abruption, premature delivery, recurrent pregnancy loss and chronic fetal distress in addition to ischemic events during pregnancy (Kuperfenic, 2000;Brenner, 2003;Couto, 2005;Ren, 2006 Thrombophilia(s) is a condition of increased tendency to form blood clots. This condition may be inherited or acquired, and this is why the term is often used in plural.…”

Main Types of Clinical Appearance of Thrombophilic States During Pregnancy – Target Groups for Thrombophilia Testing

“…The presence of thrombophilia was proven to be related to an increased risk of complications during pregnancy, such as pre-eclampsia, intrauterine growth restriction, premature detachment of placenta, preterm delivery, recurrent miscarriage, chronic fetal distress, besides ischemic events during pregnancy (Couto E 2005) (Ren A 2006) (Hoffman E 2012) (Bennet SA 2012).…”