Thrombophilia Gene Screen in Cirrhotic Patients with Portal Vein Thrombosis While Awaiting Liver Transplant

Abstract

Background: Portal vein thrombosis (PVT) is a recognized complication of liver cirrhosis. The pathogenesis of PVT is multifactorial. The  extent to which thrombophilia promotes PVT and whether patients with PVT should be routinely tested for thrombophilia remain  uncertain.

Objective: This retrospective research aimed to assess the frequency of thrombophilia in cirrhotic patients with nonmalignant PVT to  clarify the relevance of thrombophilia testing in this particular context.

Patients and methods: This study involved 40 cirrhotic patients with protein C & S deficiency prior to liver transplantation, where 20  patients had PVT and the other group (20) had no PVT. Thrombophilia testing included gene analysis for beta-fibrinogen -455G>A, factor  XIII V34L, factor V H1299R (R2), prothrombin G20210A, factor V Leiden, methylene tetrahydrofolate reductase (MTHFR) C677T, and MTHFR  A1298C.

Results: Regarding the thrombophilia gene screen, no statistically significant differences were detected between the two groups. In addition, the inherited thrombophilia gene status was not a risk factor for PVT. However, factor V Leiden showed a high  odds ratio of 11.457 and 95% CI of 0.885 - 148.27.

Conclusion: Inherited thrombophilia is considered to be a low-risk factor with low  prevalence in patients with cirrhotic non-malignant PVT. Therefore, routine testing for these conditions does not seem to be indicated in  this setting.