Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The prevalence and pathogenesis of portal vein thrombosis (PVT) in patients with cirrhosis without hepatocellular carcinoma are not clearly defined. The role of thrombophilic genetic factors is well established in other venous thrombotic diseases, as well as in noncirrhotic portal thrombosis. Recently, new, inherited thrombophilic disorders (factor V Leiden [FVL], mutation G20210A of prothrombin [PTHR A(20210)], and mutation TT677 of methylenetetrahydrofolate reductase [MTHFR C677-->T]) have been identified and associated with increased risk of venous thrombosis. The aim of our study was to investigate the role of these thrombophilic disorders in the pathogenesis of PVT in cirrhotic patients. Twenty-three cirrhotic patients with PVT and 40 cirrhotics without PVT were included. A group of 184 patients with deep vein thrombosis (DVT) and 431 healthy persons served as controls. The FVL, PTHR A(20210), and MTHFR C(677)-->T genotypes were identified by a polymerase chain reaction and restriction analysis. The frequencies of FVL, PTHR A(20210) mutation, and homozygous MTHFR C(677)-->T were 13%, 34.8%, and 43.5% in cirrhotic patients with PVT and 7.5%, 2.5%, and 5% in cirrhotic patients without PVT, respectively. Five patients in the former group had associated defects. A thrombophilic genotype was detected in 69.5% of the patients with PVT. Identification of this high-risk group may have implications in patients who are candidates for major surgery or liver transplantation, and may influence the duration of oral anticoagulation.
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PMID:Inherited coagulation disorders in cirrhotic patients with portal vein thrombosis. 1065 56

According to a recent hypothesis, venous thrombosis results from the concurrence of several factors. This hypothesis was assessed in patients with portal or hepatic venous thrombosis by simultaneously investigating most of the currently identified prothrombotic disorders, local precipitating factors, and other risk factors such as oral contraceptive use. Patients with a tumorous obstruction and patients with cirrhosis with portal vein thrombosis were excluded. The prothrombotic disorders that were investigated included classical and occult myeloproliferative disorders; antiphospholipid syndrome; protein C; protein S and antithrombin deficiency; factor V Leiden; factor II; and methylene-tetrahydrofolate-reductase gene mutations. We found 1 or several prothrombotic disorders and a local precipitating factor in 26 and 10 of the 36 patients with portal vein thrombosis, respectively; and in 28 and none of the 32 patients with hepatic vein thrombosis, respectively. We found a combination of prothrombotic disorders in 5 and 9 patients with portal and hepatic vein thrombosis, respectively, whereas such a combination is expected in less than 1% of asymptomatic subjects. Of the 10 patients with a local precipitating factor, 8 had a prothrombotic disorder. Of the 13 patients who use oral contraceptives, 10 had a prothrombotic disorder. We conclude that portal or hepatic venous thrombosis should be regarded as an index for 1 or several prothrombotic disorders, whether or not local precipitating factors or oral contraceptive use are found. Concurrence of prothrombotic disorders is more common than expected. Extensive investigation of prothrombotic disorders and anticoagulation should be considered in patients with portal or hepatic venous thrombosis.
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PMID:Cause of portal or hepatic venous thrombosis in adults: the role of multiple concurrent factors. 1070 47

Here we present a rare case of systemic sclerosis (SSc) with idiopathic portal hypertension (IPH) having factor V Leiden mutation, a well-known genetic risk factor for various venous thromboses. A 53-year-old SSc patient showing huge esophageal varices and splenomegaly without liver cirrhosis was diagnosed with IPH. As heterozygous Leiden mutation was detected, some coagulation abnormality and resultant formation of microthrombi in the branches of portal vein were suggested as a cause of IPH in this case. This is the first report showing the possible association between Leiden mutation and one of the complications of SSc.
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PMID:Idiopathic portal hypertension in a systemic sclerosis patient heterozygous for factor V Leiden mutation. 1254 41

We report a new case of recurrent, extra-hepatic, deep vein thrombosis occurring after orthotopic liver transplantation for hepatocellular carcinoma complicating 'mixed' alcoholic and post-hepatitic C cirrhosis. Coagulation tests showed activated protein C resistance. The patient's genomic DNA was negative for the factor V Leiden mutation. Analysis of the grafted liver DNA showed that the donor was a heterozygous carrier of the factor V Leiden mutation and that the recipient's activated protein C resistance was acquired through the transplantation. Screening of candidate liver donors for a prothrombotic tendency is controversial. However, this case suggests that patients who develop venous thrombosis after liver transplantation should be screened for thrombophilic abnormalities, bearing in mind that genetic abnormalities which do not affect clotting test results, such as the G20210A mutation in the factor II gene, can only be diagnosed by testing the donor or graft.
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PMID:Activated protein C resistance acquired through liver transplantation and associated with recurrent venous thrombosis. 1276 84

Hepatocellular carcinoma (HCC) patients have an increased risk for venous thromboembolism, mainly portal venous thrombosis (PVT). The aim of this study was to assess the role of acquired and hereditary thrombotic risk factors in HCC patients. Thirty-one patients with HCC, 30 patients with cirrhosis but without HCC or PVT, and 48 matched healthy controls were studied. Mean levels of plasma protein C, protein S, antithrombin, and serum lipoprotein (a) were significantly lower in patients with HCC and in the cirrhotic group compared to the healthy controls. Mean serum homocysteine levels were significantly higher in patients with HCC compared to cirrhotics and healthy controls. The prevalence of activated protein C resistance, factor V Leiden mutation, prothrombin gene mutation G20210GA, and C677T methylenetetrahydrofolate reductase polymorphism was not significantly different among the three groups. In conclusion, thrombophilic defects are common in HCC patients and they might contribute to the observed thrombotic complications in this malignancy.
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PMID:Hypercoagulable states in patients with hepatocellular carcinoma. 1525 9

Thrombotic occlusion of the hepatic veins leads to liver dysfunction and liver failure requiring liver transplantation in advanced cases. The cause for the occlusion of the hepatic veins is not completely understood. However, several underlying conditions such as polycytemia, factor V Leiden mutation, and protein C and S deficiency are found in these patients. We here report our single-center experience with 18 consecutive patients with Budd-Chiari Syndrome (BCS) who were treated at our institution between August 1992 and June 2003. Twelve patients underwent liver transplantation, three patients received stents into the hepatic veins or vena cava, another patient was treated with TIPSS (transjugular intrahepatic postosystemic stent shunt), and one patient underwent surgical mesocaval shunting. Three patients, among those the patient with TIPSS, were put on anticoagulant therapy and are scheduled for liver transplantation. We outline the indication for an approach tailored to the stage of the disease and the adaption of the procedures with the deterioration of clinical conditions. Surgical aspects and postoperative management with a focus on liver transplantation are outlined. We conclude from our observations that the management of BCS requires an approach that exhausts conservative approaches until clinical conditions deteriorate with respect to portal hypertension or liver function. Conservative management, i.e., interventional and supportive medical therapy, has been used up to 8 years in our series, until the time for liver transplantation is reached. Liver transplantation for BCS had more complications than transplantation for other liver diseases in our series. Therefore, we propose to keep liver function stable using interventional techniques to maintain venous outflow. If venous outflow cannot be interventionally restored and liver function deteriorates or cirrhosis develops during this time course, liver transplantation is the therapy of choice.
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PMID:Management of Budd-Chiari syndrome. 1581 Jun 39

An estimated 300 million people worldwide suffer from chronic hepatitis C with a prevalence of 0.8%-1.0% of the general population in Canada. An increasing pool of evidence exists supporting the use of pegylated- interferon (pegIFN) and ribavirin combination therapy for hepatitis C. We report a 49-year old male of North American aboriginal descent with chronic hepatitis C (genotype 2b). Biopsy confirmed that he had cirrhosis with a 2-wk history of left eye pain and decreased visual acuity. He developed retinal vein thrombosis after 16 of 24 wk of pegIFN-alpha 2a and ribavirin combination therapy. He was urgently referred to a retinal specialist and diagnosed with non-ischemic central retinal vein occlusion of the left eye. PegIFN and ribavirin combination therapy was discontinued and HCV RNA was undetectable after 16 wk of treatment. Hematologic investigations revealed that the patient was a factor V Leiden heterozygote with mildly decreased protein C activity. Our patient had a number of hypercoagulable risk factors, including factor V Leiden heterozygosity, cirrhosis, and hepatitis C that alone would have most likely remained clinically silent. We speculate that in the setting of pegIFN treatment, these risk factors may coalesce and cause the retinal vein thrombosis.
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PMID:Retinal vein thrombosis associated with pegylated-interferon and ribavirin combination therapy for chronic hepatitis C. 1693 80

The liver has a central role in the clotting process and an altered haemostasis is common in advanced liver disease. Nevertheless, recent studies have questioned the historical belief that impaired haemostasis in liver disease means an increased risk of bleeding. Coagulation and anticoagulation mechanisms are still balanced but are set at a lower level. Platelet function and number also play a role. The prevalence of thrombotic events is similar in both cirrhotic patients and in the general population but the cirrhotic patients have an increased risk for thrombosis in the splanchnic area. Portal blood flow stasis is the main underlying change favouring thrombosis even if other local, systemic, congenital and acquired factors are present. The onset of portal vein thrombosis strongly affects the prognosis of liver cirrhosis, worsening both portal hypertension and liver function. Some of the known risk factors for venous thrombosis--G20210A mutation of prothrombin, factor V Leiden, endoscopic treatment of esophageal varices and abdominal surgery--have a specific role in the development of splanchnic thrombosis in cirrhotic patients. The knowledge of the pathophysiological aspects of portal vein thrombosis and clotting alterations in liver disease will allow determination of the indication, duration and timing of anticoagulation therapy.
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PMID:Coagulation abnormalities in cirrhotic patients with portal vein thrombosis. 1825 65

The Budd-Chiari syndrome is a rare pathology resulting from various etiological factors which often contribute to its late diagnosis. Liver cirrhosis, malignant tumors and haematological disorders resulting in hypercoagulability, are the most common reasons of Budd-Chiari syndrome. The syndrome is characterized by portal hypertension and splanchnic congestion due to obstruction of hepatic venous outflow. The first symptoms include pain, ascites and hepatosplenomegaly. The diagnosis of Budd-Chiari syndrome can be achieved by Doppler ultrasonography, Computed Tomography scan, Magnetic Resonance or Single Photon Emission Computed Tomography. In the following article, a case report of a patient with diagnosed Budd-Chiari syndrome as a result of congenital thrombophilia-factor V Leiden gene mutation is presented. Clinical symptoms, diagnostic process, as well as treatment options, were shown in the article.
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PMID:[Budd-Chiari syndrome induced by hormonal oral contraception in the patient with congenital thrombophilia-factor V Leiden mutation--a case report]. 1905 26

Observations that hepatic inflammation and cirrhosis are associated with the presence of thrombi within the hepatic microvasculature and fibrin-fibrinogen deposition have led to epidemiologic studies showing that carriage of the factor V Leiden mutation, protein C deficiency, and increased expression of factor VIII are associated with rapid progression to cirrhosis in a chronic hepatitis C virus. Additional data suggest that this process may extend more broadly to progression in many forms of chronic liver disease. This article discusses the evidence for a role for coagulation cascade activity in hepatic fibrogenesis and explores the proposed pathogenic mechanisms including the downstream events of thrombin activation. Interference with either the generation of thrombin or its downstream activity may reduce hepatic fibrosis. Also examined are the implications for future therapeutic intervention.
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PMID:Parenchymal extinction: coagulation and hepatic fibrogenesis. 1915 Mar 16


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