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Published on: September 9, 2012

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

Yusuf Colak1, Zeki Karasu, Nevin Oruc

  • 1Department of Gastroenterology, Ege University Medical School, Izmir, Turkey.

European Journal of Gastroenterology & Hepatology
|July 11, 2006
PubMed

Insights

Hyperhomocysteinaemia and factor V Leiden mutation are significant risk factors for Budd-Chiari syndrome (BCS). Elevated homocysteine levels, particularly with the factor V Leiden mutation, increase BCS development risk.

Area of Science:

  • Hepatology
  • Thrombosis
  • Genetics

Background:

  • Budd-Chiari syndrome (BCS) involves hepatic venous outflow obstruction, often linked to prothrombotic conditions.
  • Investigating genetic and metabolic factors is crucial for understanding BCS pathogenesis.

Purpose of the Study:

  • To assess the role of hyperhomocysteinaemia, factor V Leiden mutation, and G20210A prothrombin gene mutation in Budd-Chiari syndrome.
  • To determine the association between these factors and BCS development.

Main Methods:

  • Study included 32 BCS patients and 33 healthy controls, matched for age and sex.
  • Factor V Leiden and prothrombin gene mutations analyzed via DNA from peripheral mononuclear cells.
  • Plasma homocysteine levels measured using fluorescence polarization immunoassay.

Main Results:

  • Factor V Leiden mutation frequency was significantly higher in BCS patients (20.3%) than controls (7.6%).
  • BCS patients exhibited significantly higher plasma homocysteine levels compared to controls (16.4 vs 11.0 micromol/l).
  • Patients with the factor V Leiden mutation showed elevated homocysteine levels (22.1 vs 14.4 micromol/l).

Conclusions:

  • Hyperhomocysteinaemia is a significant risk factor for Budd-Chiari syndrome.
  • The presence of the factor V Leiden mutation exacerbates this risk, especially when combined with high homocysteine levels.
  • These findings highlight the importance of screening for hyperhomocysteinaemia and factor V Leiden mutation in BCS patients.
Abstract

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