title: Multiple thrombophilic factors in a patient with Budd-Chiari syndrome.
abstract: Myeloproliferative disorders are the main cause of Budd-Chiari syndrome in western countries. Inherited or acquired thrombophilic factors have also been implicated. A novel mutation of the prothrombin gene (G-->A20210) has only been described in a few cases of Budd-Chiari syndrome so far. Venous thrombosis is often the result of multiple concomitant thrombophilic factors. We report the case of a patient with essential thrombocythemia and Budd-Chiari syndrome in which heterozygosity for both factor V Leiden and the mutation G20210A of the prothrombin gene were identified.
authors.affiliation: Coagulation Unit, Cardarellí Hospital, Naples, Italy. mariguard@libero.it
authors.forename: V
authors.initials: V
authors.lastname: Brancaccio
authors.forename: L
authors.initials: L
authors.lastname: Iannaccone
authors.forename: M
authors.initials: M
authors.lastname: Margaglione
authors.forename: M A
authors.initials: MA
authors.lastname: Guardascione
authors.forename: L
authors.initials: L
authors.lastname: Amitrano
mesh_terms: D000328:Adult; D006502:Budd-Chiari Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D005165:Factor V / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011516:Prothrombin / Q000235:genetics; D013920:Thrombocythemia, Essential / Q000235:genetics; D019851:Thrombophilia / Q000150:complications / Q000235:genetics*; D020246:Venous Thrombosis / Q000209:etiology / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin