Thrombophilic genetic factors PAI-1 4G-4G and MTHFR 677TT as risk factors of alcohol, cryptogenic liver cirrhosis and portal vein thrombosis, in a Caucasian population

D’Amico, Mario; Pasta, Francesca; Pasta, Linda

doi:10.1016/j.gene.2015.05.034

Cited by 31 publications

(38 citation statements)

References 24 publications

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“…However, retrospective transversal studies suggest a potential role in increasing the risk of PVT for homozygous methylene tetrahydrofolate reductase (MTHFR) C677T gene mutation as well as for the prothrombin G20210A and factor V Leiden (FVL) mutations, with the increase in the risk of PVT being more than 2.5‐fold . In another recent transversal retrospective study, plasminogen activator inhibitor–type 1 4G‐4G mutation together with MTHFR C677T gene mutation, but not prothrombin G20210A and FVL mutations, were independent predictors of PVT in patients with cirrhosis . Antithrombin III, protein C, and protein S levels are reduced in patients with cirrhosis and correlate with liver disease severity but not with the risk of developing PVT .…”

Section: Prevalence Incidence Etiology Diagnosis and Classificationmentioning

confidence: 99%

Nontumoral portal vein thrombosis in patients awaiting liver transplantation

Chen¹,

Turón²,

et al. 2016

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Portal vein thrombosis (PVT) occurs in approximately 2%-26% of the patients awaiting liver transplantation (LT) and is no longer an absolute contraindication for LT. Nearly half of PVT cases are accidentally found during the LT procedure. The most important risk factor for PVT development in cirrhosis may be the severity of liver disease and reduced portal blood flow. Whether other inherited or acquired coagulation disorders also play a role is not yet clear. The development of PVT may have no effect on the liver disease progression, especially when it is nonocclusive. PVT may not increase the risk of wait-list mortality, but it is a risk factor for poor early post-LT mortality. Anticoagulation and transjugular intrahepatic portosystemic shunt (TIPS) are 2 major treatment strategies for patients with PVT on the waiting list. The complete recanalization rate after anticoagulation is approximately 40%. The role of TIPS to maintain PV patency for LT as the primary indication has been reported, but the safety and efficacy should be further evaluated. PVT extension and degree may determine the surgical technique to be used during LT. If a "conventional" end-to-end portal anastomotic technique is used, there is not a major impact on post-LT survival. Post-LT PVT can significantly reduce both graft and patient survival after LT and can preclude future options for re-LT. Liver Transpl 22:352-365, 2016. V C 2015 AASLD.

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Section: Prevalence Incidence Etiology Diagnosis and Classificationmentioning

confidence: 99%

Nontumoral portal vein thrombosis in patients awaiting liver transplantation

Chen¹,

Turón²,

et al. 2016

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“…There were no significant differences between the two groups of patients with LC, belonging to the two studies 1,3 ; consequently, we analyzed the 350 patients with LC together. The whole group with SVT consisted of 482 subjects: 350 with LC, 47 patients HCC, 37 MPN, 38 AD, and 10 WAD.…”

Section: Resultsmentioning

confidence: 99%

“…The first study included 107 patients with LC and 47 patients with HCC, recruited from January 2000 to December 2007, 1 the second, 85 patients with non-cirrhotic SVT, recruited from January 2005 to June 2011, 2 and the third, 243 patients with LC recruited from June 2008 to January 2014. 3 We built a file with demographic, clinical and genetic data from the individual patients, belonging to the three studies. Table 1 shows the clinical characteristics of patients, declared in the previous original studies.…”

Section: Patientsmentioning

confidence: 99%

“…Table 1 shows the clinical characteristics of patients, declared in the previous original studies. [1][2][3] The diagnosis of LC was biopsy proven in patients without ascites and/or esophageal varices (75 in the first and 95 in the third study), and was based on compatible physical signs, laboratory and ultrasound findings in the other patients. For the diagnosis of HCC, we used the criteria of the Italian Association for the Study of the Liver.…”

Section: Patientsmentioning

confidence: 99%

“…We published three articles on the prevalence of PAI-1, MTHFR C677, V Leiden 506Q, and prothrombin 20210A: the first study on liver cirrhosis (LC) and hepatocellular carcinoma (HCC), 1 the second, on abdominal thrombosis in patients without LC or HCC, 2 and the third on a large series of patients with LC. 3 In these studies, PAI-1 4G-4G and MTHFR 677TT were significant risk factors of portal vein thrombosis (PVT) and Budd Chiari syndrome (BCS), in all groups of patients, whereas the role of V Leiden 506Q and prothrombin 20210A was significant, only in subgroups of patients: specifically V Leiden 506Q in BCS, and prothrombin 20210A in HCC patients. To compare the prevalence of these four THRGFs in patients with SVT, studied by our group, from 2000 to 2014, we analyzed individual patient data, from the three studies above described.…”

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confidence: 95%

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PAI-1 4G-4G, MTHFR 677TT, V Leiden 506Q, and Prothrombin 20210A in Splanchnic Vein Thrombosis: Analysis of Individual Patient Data From Three Prospective Studies

Pasta¹,

Pasta

D’Amico

2016

Journal of Clinical and Experimental Hepatology

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Background: There are no univocal opinions on the role of genetic thrombophilia on splanchnic vein thrombosis (SVT). We defined genetic thrombophilia the presence of one of these thrombophilic genetic factors (THRGFs): PAI-1 4G-4G, MTHFR 677TT, V Leiden 506Q, and prothrombin 20210A. Objectives: To evaluate the frequencies of these THRGFs in SVT patients, we analyzed individual data of 482 Caucasian patients, recruited from 2000 to 2014 in three prospective studies. SVT was defined as the presence of thrombosis of portal (PVT), mesenteric (MVT), splenic (SPVT), cava (CT), and hepatic vein (Budd Chiari syndrome, BCS). Pre-hepatic SVT (pre-HSVT) was defined as PVT with or without MVT/SPVT, without BCS. Post-hepatic SVT (post-HSVT) was BCS with or without PVT/MVT/SPVT. Methods: We compared 350 patients with liver cirrhosis (LC), 47 hepatocellular carcinoma (HCC), 37 myeloproliferative neoplasm (MPN), 38 associated disease (AD), 10 without any associated disease (WAD), vs 150 healthy controls (HC); 437 patients showed pre-HSVT and 45 post-HSVT. Results: Thrombophilia was present in 294/482 (60.9%) patients: 189/350 LC (54.0%), 31/47 (66.0%) HCC, 29/39 (74.4%) MPN, 35/38 AD (92.1%), and 10/10 (100%) WAD, and 54/150 (36.0%) in HC. In the total group, we found 175 PAI-1 4G-4G, 130 MTHFR 677TT, 42V Leiden 506Q, and 27 prothrombin 20210A; 75 patients showed presence of >1 TRHGF; the more frequent association was PAI-1 4G-4G/MTHFR 677TT, in 36 patients. PAI-1 4G-4G and MTHFR 677TT were significantly more frequent in patients with SVT (P values <0.005), whereas V Leiden Q506 and prothrombin G20210A were not. PAI-1 4G-4G and MTHFR 677TT distributions deviated significantly from that expected from a population in Hardy-Weinberg equilibrium. Thrombophilia was significantly less frequent in patients with pre-HSVT (250/437, 57.2%) than in patients with post-HSVT (44/45, 97.8%). Conclusions: Our study shows the significant prevalence of PAI-1 4G-4G and MTHFR 677TT in SVT, mainly in post-HSVT. ( J CLIN EXP HEPATOL 2016;6:10-14)

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Genetic association between plasminogen activator inhibitor‐1 rs1799889 polymorphism and venous thromboembolism: Evidence from a comprehensive meta‐analysis

Huang

Wang

et al. 2019

Clinical Cardiology

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BackgroundAssociation between plasminogen activator inhibitor‐1 (PAI‐1) rs1799889 polymorphism and venous thromboembolism (VTE) were explored by many previous studies, yet the findings of these studies were conflicting.Hypothesis PAI‐1 rs1799889 polymorphism may serve as a genetic marker of VTE. We aimed to better clarify the relationship between PAI‐1 rs1799889 polymorphism and VTE in a larger combined population by performing a meta‐analysis.MethodsLiteratures were searched in Pubmed, Embase, Web of Science, and China National Knowledge Infrastructure (CNKI). We used Review Manager to combine the results of individual studies.ResultsForty‐eight studies involving 14 806 participants were eligible for inclusion. Combined results revealed that PAI‐1 rs1799889 polymorphism was significantly associated with VTE in Caucasians (dominant comparison: odds ratio [OR] 1.20, 95% confidence interval [CI] 1.09‐1.32; recessive comparison: OR 0.84, 95% CI 0.76‐0.94; allele comparison: OR 1.08, 95% CI 1.02‐1.15) and East Asians (dominant comparison: OR 1.60, 95% CI 1.17‐2.19; allele comparison: OR 1.53, 95% CI 1.21‐1.93). Further analyses obtained similar significant associations in these with deep vein thrombosis (DVT) and these with Factor V Leiden mutation.ConclusionsOur findings supported that PAI‐1 rs1799889 polymorphism may serve as one of the predisposing factors of VTE in both Caucasians and East Asians, especially in these with DVT and these with Factor V Leiden mutation.

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Thrombophilic genetic factors PAI-1 4G-4G and MTHFR 677TT as risk factors of alcohol, cryptogenic liver cirrhosis and portal vein thrombosis, in a Caucasian population

Cited by 31 publications

References 24 publications

Nontumoral portal vein thrombosis in patients awaiting liver transplantation

Nontumoral portal vein thrombosis in patients awaiting liver transplantation

PAI-1 4G-4G, MTHFR 677TT, V Leiden 506Q, and Prothrombin 20210A in Splanchnic Vein Thrombosis: Analysis of Individual Patient Data From Three Prospective Studies

Genetic association between plasminogen activator inhibitor‐1 rs1799889 polymorphism and venous thromboembolism: Evidence from a comprehensive meta‐analysis

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