Methylenetetrahydrofolate reductase <scp><i>C677T</i></scp> gene mutation and hyperhomocysteinemia in Budd–Chiari syndrome and portal vein thrombosis: A systematic review and meta‐analysis of observational studies

Qi, Xingshun; Yang, Zhiping; Stefano, Valerio De; Fan, Daiming

doi:10.1111/hepr.12348

Cited by 33 publications

(32 citation statements)

References 57 publications

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“…A recent systematic review has demonstrated that a homozygous MTHFR C677T mutation and hyperhomocysteinemia increase the risk for noncirrhotic PVT [39]. Similarly, our study found a very high prevalence of the MTHFR C677T mutation in Chinese patients with PVT (76%).…”

Section: Discussionsupporting

confidence: 84%

Thrombotic risk factors in Chinese nonmalignant and noncirrhotic patients with portal vein thrombosis

et al. 2015

European Journal of Gastroenterology &Amp; Hepatology

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MPNs are an important thrombotic risk factor in Chinese patients with PVT. However, the extreme rarity of paroxysmal nocturnal hemoglobinuria, anticardiolipin IgG antibodies, and factor V G1691A and factor II G20210A mutations has precluded any support for the implementation of routine screening for these thrombotic factors in such patients. Additional case-control studies should confirm the role of the MTHFR C677T mutation and hyperhomocysteinemia in the pathogenesis of PVT.

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Section: Discussionsupporting

confidence: 84%

Thrombotic risk factors in Chinese nonmalignant and noncirrhotic patients with portal vein thrombosis

et al. 2015

European Journal of Gastroenterology &Amp; Hepatology

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“…Recently, it has been also proposed that the identification of thrombotic risk factors for PVT should be helpful to stratify the benefits of prophylactic anticoagulation in liver cirrhosis [28, 29]. However, we have to acknowledge that few thrombotic risk factors for PVT have been clearly established in a small number of patients with liver cirrhosis [30–33]. In addition, anticoagulation could be effective for the treatment of PVT in liver cirrhosis [34–37].…”

Section: Discussionmentioning

confidence: 99%

Association between Portal Vein Thrombosis and Survival in Non-Liver-Transplant Patients with Liver Cirrhosis: A Systematic Review of the Literature

Dai

Yang

et al. 2015

Gastroenterology Research and Practice

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A systematic review of the literature was performed to analyze the association between portal vein thrombosis (PVT) and survival in non-liver-transplant patients with liver cirrhosis. PubMed, EMBASE, and Cochrane Library databases were searched for all relevant papers which evaluated the prognostic value of PVT in predicting the survival of liver cirrhosis. Meta-analyses were not conducted because the ways of data expression and lengths of follow-up were heterogeneous among studies. Overall, 13 papers were included. The 5-day, 6-week, and 1-year mortality were investigated in 1, 3, and 1 studies, respectively; and all of them were not significantly different between cirrhotic patient with and without PVT. By comparison, the 3-year mortality was reported in 1 study; and it was significantly increased by the presence of PVT. The overall mortality was analyzed in 5 studies; and the association with overall mortality and PVT was significant in 4 studies, but not in another one. However, as for the cirrhotic patients undergoing surgical or interventional shunts, the overall mortality was not significantly associated with the presence of PVT in 4 studies. In conclusion, the presence of PVT might be associated with the long-term mortality in non-liver-transplant patients with liver cirrhosis, but not with the short-term mortality.

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“…Hyperhomocysteinaemia is associated with an increased risk of venous thrombosis in the general population. A systematic review and meta‐analysis demonstrated that BCS patients had a significantly higher prevalence of hyperhomocysteinaemia and homozygous MTHFR C677T mutation than healthy controls . In Europe, prevalence of hyperhomocysteinaemia in BCS patients ranges from 11% to 22% in published studies, whereas it seems to be double the prevalence in China …”

Section: Aetiology and Pathogenesismentioning

confidence: 99%

Review article: a multidisciplinary approach to the diagnosis and management of Budd‐Chiari syndrome

Khan

Armstrong

Mehrzad

et al. 2019

Aliment Pharmacol Ther

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Background: Budd-Chiari syndrome (BCS) is a rare but fatal disease caused by obstruction in the hepatic venous outflow tract. Aim: To provide an update of the pathophysiology, aetiology, diagnosis, management and follow-up of BCS. Methods: Analysis of recent literature by using Medline, PubMed and EMBASE databases. Results: Primary BCS is usually caused by thrombosis and is further classified into "classical BCS" type where obstruction occurs within the hepatic vein and "hepatic vena cava BCS" which involves thrombosis of the intra/suprahepatic portion of the inferior vena cava (IVC). BCS patients often have a combination of prothrombotic risk factors. Aetiology and presentation differ between Western and certain Asian countries. Myeloproliferative neoplasms are present in 35%-50% of European patients and are usually associated with the JAK2-V617F mutation. Clinical presentation is diverse and BCS should be excluded in any patient with acute or chronic liver disease. Non-invasive imaging (Doppler ultrasound, computed tomography, or magnetic resonance imaging) usually provides the diagnosis. Liver biopsy should be obtained if small vessel BCS is suspected. Stepwise management strategy includes anticoagulation, treatment of identified prothrombotic risk factors, percutaneous revascularisation and transjugular intrahepatic portosystemic stent shunt to re-establish hepatic venous drainage, and liver transplantation in unresponsive patients. This strategy provides a 5-year survival rate of nearly 90%. Long-term outcome is influenced by any underlying haematological condition and development of hepatocellular carcinoma. Conclusions: With the advent of newer treatment strategies and improved understanding of BCS, outcomes in this rare disease have improved over the last three decades. An underlying haematological disorder can be the major determinant of outcome. Primary BCS is considered a multifactorial disease and multicentre data found a combination of several prothrombotic conditions in 25% to 46% of the patients with BCS, 11,19-21 several times greater than expected in the general population. The discovery of one causal factor should not discourage further investigation to identify other prothrombotic conditions. Multifactorial causes may explain the rarity of BCS. 2 The prothrombotic conditions found in BCS, in particular the classical type, include: Factor V Leiden mutation, prothrombin (PT) gene mutation, protein C deficiency, protein S deficiency, antithrombin deficiency, antiphospholipid syndrome, hyperhomocysteinemia and paroxysmal nocturnal haemoglobinuria. 22 BCS is also associated with systemic inflammatory diseases, such as Behçet's disease, sarcoidosis, vasculitis and other connective tissue diseases. 22 A detailed description of the frequency of inherited/acquired thrombophilias and risk factors found in patients with BCS compared to those with portal vein thrombosis is summarised by Poisson and colleagues. 23

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Methylenetetrahydrofolate reductase C677T gene mutation and hyperhomocysteinemia in Budd–Chiari syndrome and portal vein thrombosis: A systematic review and meta‐analysis of observational studies

Cited by 33 publications

References 57 publications

Thrombotic risk factors in Chinese nonmalignant and noncirrhotic patients with portal vein thrombosis

Thrombotic risk factors in Chinese nonmalignant and noncirrhotic patients with portal vein thrombosis

Association between Portal Vein Thrombosis and Survival in Non-Liver-Transplant Patients with Liver Cirrhosis: A Systematic Review of the Literature

Review article: a multidisciplinary approach to the diagnosis and management of Budd‐Chiari syndrome

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