Abstract

LIMA, Ricardo Peixoto  and  MOREIRA, Margarida. Hereditary thrombophilia: one case, several issues. Rev Port Med Geral Fam [online]. 2015, vol.31, n.5, pp.334-340. ISSN 2182-5173.

Introduction: Over 50% of cases of hereditary thrombophilia are associated with the either the G20210A prothrombin gene mutation or factor V Leiden. The prothrombin G20210A mutation is present in 0.7-4% of the general population and triples the risk of thromboembolism. The role of this mutation in the recurrence of the condition is unclear. Women with this mutation have an increased risk of thrombotic events during pregnancy and with oral contraceptives. The aim of this report is to raise awareness of the factors that contributed to thromboembolism in a young woman and to discuss the implications for the individual and the family. Case description: A 25-year-old female in a nuclear family at stage I of the Duvall cycle, without a family history of embolism, developed a pulmonary thromboembolism (PT) after receiving a combined oral contraceptive. The G20210A prothrombin gene heterozygous mutation was identified. She was put on anticoagulant therapy for six months. One year ago she expressed a desire to conceive and was referred for preconception counseling at a local hospital. She was advised to return to hospital in case of pregnancy. Following confirmation of pregnancy by her family doctor at the end of January 2015, the patient was immediately referred to the hospital for a high-risk pregnancy consultation. In February she was admitted to the emergency department with the sudden onset of dyspnea and was diagnosed with a PT. Enoxaparin therapy was started and continued postpartum. There were no other complications and a healthy baby was delivered at 40 weeks of gestation by a normal delivery. The patient has a 22-year-old sister who is considering starting contraception. Comment: This case highlights the importance of starting low molecular weight heparin treatment in early pregnancy in women with this mutation. It also stresses the importance of screening for the mutation in asymptomatic relatives.

Keywords : Hereditary; Thrombophilia; Contraceptive Agents; Pregnancy; Venous Thromboembolism.

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