title: [20210G/A mutation of prothrombin gene in a patient with deep venous thrombosis ad pulmonary embolism without other risk factors of thrombosis].
abstract: A new genetic anomaly predisposing to venous thrombosis was described in 1996, namely the transition of guanine (G) to adenine (A) at position 20210 in the 3-untranslated region of the prothrombin gene. This mutation is associated with high levels of plasma prothrombin and increased risk of thrombotic events in the venous system. We report the case of a man who, lacking known risk factors for thrombosis, suffered a massive pulmonary embolism and deep venous thrombosis in both lower legs. Thrombophilic analysis confirmed that the patient and close relatives were carriers of the heterozygotic 20210G/A variant of the prothrombin gene. Two relatives with the genetic defect had also suffered some type of deep venous thrombosis.
authors.affiliation: Servicio de Neumología, Hospital Universitario La Fe, Valencia.
authors.forename: P
authors.initials: P
authors.lastname: de la Cuadra
authors.forename: M D
authors.initials: MD
authors.lastname: Nauffal
authors.forename: A
authors.initials: A
authors.lastname: Vayá Montaña
authors.forename: M A
authors.initials: MA
authors.lastname: Martínez
authors.forename: M
authors.initials: M
authors.lastname: Perpiñá
mesh_terms: D000328:Adult; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D011655:Pulmonary Embolism / Q000000981:diagnostic imaging / Q000235:genetics*; D013902:Radiography, Thoracic; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics*; D013924:Thrombophlebitis / Q000000981:diagnostic imaging / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D011516:Prothrombin