title: Factor V Leiden related Budd-Chiari syndrome.
abstract: BACKGROUND
  The role of factor V Leiden as a cause of Budd-Chiari syndrome has only recently been described.
  
  
  OBJECTIVE
  To assess the specific features of factor V Leiden related Budd-Chiari syndrome.
  
  
  METHODS
  Sixty three consecutive patients with hepatic vein or terminal inferior vena cava thrombosis.
  
  
  METHODS
  Standardised chart review.
  
  
  RESULTS
  Factor V Leiden was found in 20 patients (31% (95% CI 20-43)). In the subgroup of patients with, compared with the subgroup without, factor V Leiden, a combination of prothrombotic states was more common (70% (95% CI 50-90) v 14% (95% CI 3-24)); inferior vena cava thrombosis was more frequent (40% (95% CI 19-61) v 7% (95% CI 0-14)); and distribution of initial alanine aminotransferase values was bimodal (almost normal or extremely increased) versus unimodal (p=0.003). Factor V Leiden accounted for four of five cases of massive ischaemic necrosis (transaminases >50-fold the upper limit of normal values) (p=0.014), and also for all three cases developing during pregnancy. Patients with and without factor V Leiden did not differ with regard to mortality, portosytemic shunting, or listing for liver transplantation. Hepatocellular carcinoma developed in two patients; both had factor V Leiden and indolent obstruction of the inferior vena cava.
  
  
  CONCLUSIONS
  In patients with Budd-Chiari syndrome, factor V Leiden (a) is common; (b) precipitates thrombosis mostly when combined with another risk factor; (c) is associated with one of two contrasting clinical pictures: indolent thrombosis-particularly of the inferior vena cava-or massive ischaemic necrosis; and (d) is a major cofactor of Budd-Chiari syndrome developing during pregnancy.
authors.affiliation: Service d'Hépatologie, Hôpital Beaujon, Clichy, France.
authors.forename: P
authors.initials: P
authors.lastname: Deltenre
authors.forename: M H
authors.initials: MH
authors.lastname: Denninger
authors.forename: S
authors.initials: S
authors.lastname: Hillaire
authors.forename: M C
authors.initials: MC
authors.lastname: Guillin
authors.forename: N
authors.initials: N
authors.lastname: Casadevall
authors.forename: J
authors.initials: J
authors.lastname: Brière
authors.forename: S
authors.initials: S
authors.lastname: Erlinger
authors.forename: D C
authors.initials: DC
authors.lastname: Valla
mesh_terms: D000328:Adult; D000410:Alanine Transaminase / Q000097:blood; D006502:Budd-Chiari Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000209:etiology; D011486:Protein C / Q000378:metabolism; D012307:Risk Factors; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
chemical_list: D011486:Protein C; C095381:factor V Leiden; D005165:Factor V; D000410:Alanine Transaminase