title: Massive pulmonary embolism associated with Factor V Leiden, prothrombin, and methylenetetrahydrofolate reductase gene mutations in a young patient on oral contraceptive pills: a case report.
abstract: Factor V Leiden (Factor V G1691A), prothrombin gene mutation G20210A, and homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene are known to predispose venous thromboembolism (VTE). We present herein a rare case of a young woman heterozygous for these mutations and taking oral contraceptive pills for less than 2 months, diagnosed to have massive deep venous thrombosis and bilateral pulmonary embolism. The patient was managed for 10 days in the hospital and discharged home on oral anticoagulants. This case suggests that screening for these factors in people with family history of thrombosis and in relatives of patients with these mutations is highly recommended to prevent fatal consequences. In addition, a new guideline for treatment and prophylaxis with anticoagulant for these patients and others who are at risk of developing VTE (American College of Chest Physicians [ACCP] guidelines-Chest 2008) has been published recently. Our recommendation is to promote for the internationally published algorithms through their application, where necessary, to prevent any future thrombotic morbidity or mortality incidents.
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Khalil M
authors.initials: KM
authors.lastname: Charafeddine
authors.forename: Rami A
authors.initials: RA
authors.lastname: Mahfouz
authors.forename: Georges Y
authors.initials: GY
authors.lastname: Ibrahim
authors.forename: Ali T
authors.initials: AT
authors.lastname: Taher
authors.forename: Jamal J
authors.initials: JJ
authors.lastname: Hoballah
authors.forename: Assad M
authors.initials: AM
authors.lastname: Taha
mesh_terms: D000328:Adult; D003276:Contraceptives, Oral / Q000008:administration & dosage / Q000009:adverse effects*; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D011655:Pulmonary Embolism / Q000139:chemically induced* / Q000235:genetics*; D055815:Young Adult
chemical_list: D003276:Contraceptives, Oral; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)