G20210A prothrombin gene mutation and other trombophilic polymorphisms in patients with portal or hepatic venous thrombosis

Madonna, Pasquale; Stefano, V. De; Coppola, Antonio; Cerbone, Anna Maria; Minno, Giovanni Di

doi:10.1053/gast.2001.23083

Cited by 18 publications

(16 citation statements)

References 8 publications

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“…The association between this polymorphism of prothrombin and PVT has already been reported in patients without liver cirrhosis [5,27,28] although it is generally considered a weak risk of venous thrombosis [9] unless in presence of cofactors [30]. In our patients with liver cirrhosis the presence of this mutation increased the risk of PVT of more than fivefold.…”

Section: Discussionsupporting

confidence: 51%

Risk factors and clinical presentation of portal vein thrombosis in patients with liver cirrhosis

Amitrano

Guardascione

Brancaccio

et al. 2004

Journal of Hepatology

514

467

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Section: Discussionsupporting

confidence: 51%

Risk factors and clinical presentation of portal vein thrombosis in patients with liver cirrhosis

Amitrano

Guardascione

Brancaccio

et al. 2004

Journal of Hepatology

514

467

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“…In idiopathic PVT, the prothrombin G20210A mutation was more frequent than in a control group, or non-idiopathic PVT or deep vein thrombosis [16]. Similar findings were reported in idiopathic portal or hepatic venous thrombosis patients compared with venous thrombosis and control groups [17]. However, both of these studies had small numbers of PVT patients.…”

supporting

confidence: 65%

Portal vein thrombosis: what is the role of genetics?

Walker

2005

European Journal of Gastroenterology & Hepatology

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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.

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“…The occurrence of EHPVO is also associated with the presence of inherited thrombophilia, alone or in combination with the forementioned conditions. Among the causes of thrombophilia, the G20210A mutation in the gene encoding the coagulation factor prothrombin is consistently associated with an increased risk of EHPVO, whereas the strength of the association with the mutation G1691A in factor V (factor V Leiden) is controversial [5][6][7][8][9][10][11]. These gain-of-function mutations are the most common inherited risk factors for thrombophilia in populations of Caucasian descent [12].…”

Section: Introductionmentioning

confidence: 99%