Multiple thrombophilic factors in a patient with Budd-Chiari syndrome.
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.
Brancaccio
V
V
Coagulation Unit, Cardarellí Hospital, Naples, Italy. mariguard@libero.it
Iannaccone
L
L
Margaglione
M
M
Guardascione
M A
MA
Amitrano
L
L
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
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin