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Hyperhomocysteinaemia and factor V Leiden mutation are associated with Budd-Chiari syndrome.

Authors: Colak, Yusuf  Karasu, Zeki  Oruc, Nevin  Can, Cenk  BalĂ˝m, Zuhal  Akarca, Ulussalih  Gunsar, Fulya  Ersoz, Galip  Tokat, Yaman  Batur, Yucel 
Citation: Colak Y, etal., Eur J Gastroenterol Hepatol. 2006 Aug;18(8):917-20.
Pubmed: (View Article at PubMed) PMID:16825912


OBJECTIVES: 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.

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RGD Object Information
RGD ID: 14700661
Created: 2019-08-09
Species: All species
Last Modified: 2019-08-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.