Hyperhomocysteinaemia and factor V Leiden mutation are associated with Budd-Chiari syndrome.
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.
Colak
Yusuf
Y
Department of Gastroenterology, Ege University Medical School, Izmir, Turkey.
Karasu
Zeki
Z
Oruc
Nevin
N
Can
Cenk
C
Balým
Zuhal
Z
Akarca
Ulussalih
U
Gunsar
Fulya
F
Ersoz
Galip
G
Tokat
Yaman
Y
Batur
Yucel
Y
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
C095381:factor V Leiden; D006710:Homocysteine; D005165:Factor V; D011516:Prothrombin