Associations of coagulation factor V Leiden and prothrombin G20210A mutations with Budd-Chiari syndrome and portal vein thrombosis: a systematic review and meta-analysis.

BACKGROUND & AIMS: We conducted a systematic review and meta-analysis to evaluate the associations of the coagulation factor V (encoded by F5) Leiden (FVL) or prothrombin (encoded by F2) G20210A mutation with Budd-Chiari syndrome or portal vein thrombosis (PVT).

METHODS

Relevant articles were identified in searches of the PubMed, EMBASE, Cochrane Library, and ScienceDirect databases. The prevalence of the FVL and prothrombin G20210A mutations were compared between patients with Budd-Chiari syndrome or PVT without cirrhosis and healthy individuals (controls) and between patients with cirrhosis, with and without PVT. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated.

RESULTS

We initially identified 869 articles, and included 27 in our final analysis. Compared with controls, patients with Budd-Chiari syndrome had a significantly higher prevalence of the FVL mutation (OR, 6.21; 95% CI, 3.93-9.79) and a similar prevalence of the prothrombin G20210A mutation (OR, 1.90; 95% CI, 0.69-5.23); patients with PVT without cirrhosis had a significantly higher prevalence of the FVL mutation (OR, 1.85; 95% CI, 1.09-3.13) or the prothrombin G20210A mutation (OR, 5.01; 95% CI, 3.03-8.30). Compared with patients with cirrhosis without PVT, patients with cirrhosis and PVT had a significantly higher prevalence of the FVL mutation (OR, 2.55; 95% CI, 1.29-5.07). We observed a trend toward a higher prevalence of the prothrombin G20210A mutation in patients with cirrhosis and PVT, but the difference was not statistically significant (OR, 2.93; 95% CI, 0.94-9.07).

CONCLUSIONS

Based on a meta-analysis, the FVL mutation is associated with an increased risk of Budd-Chiari syndrome, PVT without cirrhosis, and PVT in cirrhosis. The prothrombin G20210A mutation is associated with PVT, but not Budd-Chiari syndrome. Studies are needed to confirm these findings in different racial and ethnic groups.