Portal vein thrombosis: what is the role of genetics?

Abstract

The aetiology of portal vein thrombosis (PVT) in adults is complex. Risk factors include local precipitating factors and acquired and inherited factors, an area in which there has been much recent progress. Although PVT in the absence of cirrhosis may be regarded as a somewhat different disorder to PVT in the presence of cirrhosis, in both cases most studies support a role of the prothrombin G20210A mutation. Some differences in risk factors observed between different studies may relate partly to referral patterns or study design, although individual patients may develop PVT as a result of differing combinations of risk factors. The demonstration of an inherited thrombophilic mutation in a subset of PVT may ultimately inform clinical management regarding the use and duration of anticoagulation therapy, although there is a need for evidence from randomized-controlled clinical trial data.

Portal vein thrombosis; risk factors, clinical presentation and treatment

“…In accordance with previously published studies, we found that PVT developed because of several risk factors [9,15,16]. In the restricted analysis, we found a combination of local (56%) and systemic risk factors (50%).…”

Thrombosis of the Portal Venous System

“…Genetic studies have demonstrated that mutations in factor V Leiden and prothrombin are potential genetic factors for portal venous system thrombosis. 10 Unfortunately, we could not perform these 2 analyses because of technical limitations. Intra-abdominal or systemic infections were the predisposing factors in more than one-third of patients with PVT in previous studies.…”

Portal vein thrombosis: A predictable milestone in cirrhosis?

“…However, no association between prothrombin gene mutation and PVT was demonstrated in another study [8]. However, the latter was a cross-sectional study and patients with PVT had more severe liver disease than those without PVT [8,15]. The discrepancy in the findings further highlights the importance of patient selection when looking for prognostic risk factors [13].…”