Hyperhomocysteinemia and MTHFR C677T polymorphism in patients with portal vein thrombosis complicating liver cirrhosis

Ventura, Paolo; Venturelli, G.; Marcacci, M; Fiorini, Massimo; Marchini, Stefano; Cuoghi, Chiara; Pietrangelo, Antonello

doi:10.1016/j.thromres.2016.03.024

Cited by 19 publications

(16 citation statements)

References 85 publications

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“…APS was the most common thrombophilic disorder found in our cohort (5.3%). Similar figures have been observed in some [29,33], but not all studies [15,23,24,39]. These discrepancies might be explained not only by differences in study design or target population, but also by a low adherence to the revised APS criteria [40].…”

Section: Discussionsupporting

confidence: 71%

Portal Thrombosis in Cirrhosis: Role of Thrombophilic Disorders

Fortea

Carrera

Puente

et al. 2020

JCM

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In patients with liver cirrhosis the contribution of inherited and acquired prothrombotic disorders in the development of non-malignant portal vein thrombosis (PVT) is inconclusive. The purpose of this retrospective study was to examine the prevalence of thrombophilia in this setting at our center from January 2012 to November 2019. Tests included gene mutational analysis for Factor V Leiden, prothrombin G20210A, JAK2 (V617F), Calreticulin (CARL), in addition to activated protein C resistance, antithrombin III, protein C and S levels, and antiphospholipid antibodies. We included 77 patients, six of whom (7.8%) had a thrombophilic disorder: antiphospholipid syndrome in four patients, prothrombin gene mutation in one and factor V Leiden mutation in one. This latter patient had also been diagnosed with polycythemia vera years before PVT development. Complete thrombosis of the main portal vein and re-thrombosis after stopping anticoagulation were more frequent in patients with thrombophilia, but the rates of recanalization under anticoagulant therapy were similar among groups. No other difference was accounted between groups. The low prevalence of acquired and inherited thrombophilia found in patients with cirrhosis and PVT support testing for these disorders on an individual basis and avoiding universal screening to reduce costs and unwarranted testing.

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Section: Discussionsupporting

confidence: 71%

Portal Thrombosis in Cirrhosis: Role of Thrombophilic Disorders

Fortea

Carrera

Puente

et al. 2020

JCM

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“…Factor V Leiden G1691A, methylenetetrahydrofolate reductase (MTHFR) C677T and prothrombin G20210A mutations have been associated with PVT in cirrhosis [ 34 , 35 ]. A recent study highlights the possible implication of high plasma homocysteine in cirrhosis for PVT formation (especially if complicated by HCC) and MTHFR TT status as a possible link between HCC and PVT [ 36 ]. Additionally, antiphospholipid antibodies have been associated with an increased risk of PVT in cirrhosis [ 37 ].…”

Section: Pvt Pathophysiologymentioning

confidence: 99%

Portal vein thrombosis in cirrhosis: diagnosis, natural history, and therapeutic challenges

Mantaka

Augoustaki

Kouroumalis

et al. 2018

aog

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Portal vein thrombosis (PVT) is a frequent complication in cirrhosis and its prevalence increases with disease severity. Several factors are involved in the development and progression of PVT. The challenge for the management of PVT is the precise evaluation of the bleeding risk as opposed to life-threatening extension of thrombosis. Nevertheless, the impact on the progression and outcome of liver disease is unclear. A critical evaluation of the available data discloses that treating PVT in cirrhotics is safe and effective. However, there are open issues, such as which anticoagulant could represent a safer therapeutic option, and when and for how long this treatment should be administered to cirrhotic patients with PVT.

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“…Inherited thrombophilic disorders are reported in up to 70% of patients with cirrhosis and PVT. The most important genetic abnormalities are factor II mutation (G20210A), factor V mutation and the homozygous polymorphisms of methylenetetrahydrofolate reductase (MTHFR) C677T gene mutation[ 39 , 40 ]. D’Amico et al[ 17 ] confirmed the influence of MTHFR gene mutation in PVT pathogenesis along with the plasminogen activator inhibitor-type 1 4G-4G mutation.…”

Section: Mechanisms Leading To Pvt In Liver Cirrhosismentioning

confidence: 99%

“…Other inherited prothrombotic conditions as hyperhomocysteinemia[ 40 ] antiphospholipid syndrome[ 41 ] or myeloprolipherative disorders[ 42 ] were evaluated, but did not proved as major risk factors for PVT development in cirrhotic patients.…”

Section: Mechanisms Leading To Pvt In Liver Cirrhosismentioning

confidence: 99%

Portal vein thrombosis in cirrhotic patients - it is always the small pieces that make the big picture

Gîrleanu

Trifan

Stanciu

et al. 2018

WJG

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Portal vein thrombosis (PVT) is a frequent and serious complication in patients with liver cirrhosis (LC). Recently, a new classification of PVT was proposed, although the functional component was not completed included. The status of liver disease (compensated/decompensated) should be added to this classification. Reduced portal flow velocity and the acquired hypercoagulable status associated with LC are the main risk factors for PVT development, although endothelial dysfunction may play an important role that needs to be further evaluated. The European Association for the Study of the Liver and the American Association for the Study of Liver Disease recommend that the anticoagulant treatment should be consider in cirrhotic patients with PVT. Low molecular weight heparin and vitamin K antagonists proved their efficacy and relatively safety in PVT treatment, although in addition to recanalization rates, more complex end-points such as mortality and decompensation rate should be evaluated. The new oral anticoagulant therapies offers the advantage of oral administration in the absence of laboratory monitoring, however, there are a few reports regarding their use in cirrhotic patients, most of them referring to compensated isolated cases. Transjugular intrahepatic portosystemic shunt could be an alternative if thrombosis progresses despite anticoagulatant therapy and/or when PVT is associated with portal hypertension complications. The aim of this editorial is to discuss the different aspects of pathophysiology, clinical relevance, diagnosis and management of PVT in patients with LC.

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Hyperhomocysteinemia and MTHFR C677T polymorphism in patients with portal vein thrombosis complicating liver cirrhosis

Cited by 19 publications

References 85 publications

Portal Thrombosis in Cirrhosis: Role of Thrombophilic Disorders

Portal Thrombosis in Cirrhosis: Role of Thrombophilic Disorders

Portal vein thrombosis in cirrhosis: diagnosis, natural history, and therapeutic challenges

Portal vein thrombosis in cirrhotic patients - it is always the small pieces that make the big picture

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