title: Hyperhomocysteinaemia and factor V Leiden mutation are associated with Budd-Chiari syndrome.
abstract: OBJECTIVE
  Budd-Chiari syndrome (BCS) is characterized by hepatic venous outflow obstruction and may be caused by various prothrombotic disorders. We aimed to study the role of hyperhomocysteinaemia, factor V Leiden mutation and G20210A prothrombin gene mutation in the pathogenesis of the syndrome.
  
  
  METHODS
  Thirty-two patients (16 male, 16 female, aged 19-45 years) with angiographically verified BCS and 33 age-matched and sex-matched voluntary healthy controls (15 male, 18 female, aged 19-45 years) were included into the study. Factor V Leiden and prothrombin gene mutations were determined in extracted DNA from peripheric mononuclear cells, using a light cycler amplification system. Plasma homocysteine levels were measured by fluorescence polarization immunoassay.
  
  
  RESULTS
  The homozygote factor V Leiden mutation was diagnosed in four BCS patients and the heterozygote mutation was diagnosed in five. The frequency of the mutant allele was 20.3% in BCS patients and 7.6% in the controls (P < 0.05). There was no significant difference in prothrombin gene mutation frequency between the two groups. Serum homocysteine levels were significantly higher in the BCS group than in the controls (16.4 +/- 8.8 vs 11.0 +/- 2.7 micromol/l; P < 0.01). BCS patients with the mutant factor V Leiden allele have significantly higher levels of serum homocysteine (22.1 +/- 13.3 vs 14.4 +/- 5.9 mumol/l; P < 0.05).
  
  
  CONCLUSIONS
  Hyperhomocysteinaemia, especially when associated with the factor V Leiden mutation, is an important risk factor for the development of BCS.
authors.affiliation: Department of Gastroenterology, Ege University Medical School, Izmir, Turkey.
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Colak
authors.forename: Zeki
authors.initials: Z
authors.lastname: Karasu
authors.forename: Nevin
authors.initials: N
authors.lastname: Oruc
authors.forename: Cenk
authors.initials: C
authors.lastname: Can
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Balým
authors.forename: Ulussalih
authors.initials: U
authors.lastname: Akarca
authors.forename: Fulya
authors.initials: F
authors.lastname: Gunsar
authors.forename: Galip
authors.initials: G
authors.lastname: Ersoz
authors.forename: Yaman
authors.initials: Y
authors.lastname: Tokat
authors.forename: Yucel
authors.initials: Y
authors.lastname: Batur
mesh_terms: D000328:Adult; D006502:Budd-Chiari Syndrome / Q000097:blood* / Q000235:genetics*; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D012737:Sex Factors; D014421:Turkey
chemical_list: C095381:factor V Leiden; D006710:Homocysteine; D005165:Factor V; D011516:Prothrombin