Background
Budd–Chiari syndrome (BCS) is a rare disease characterized by hepatic venous outflow tract obstruction (HVOTO).
Methods
Recent literature has been analyzed for this narrative review.
...Results
Primary BCS/HVOTO is a result of thrombosis. The same patient often has multiple risk factors for venous thrombosis and most have at least one. Presentation and etiology may differ between Western and certain Eastern countries. Myeloproliferative neoplasms are present in 40% of patients and are usually associated with the V617F-JAK2 mutation in myeloid cells, in particular peripheral blood granulocytes. Presentation and symptoms vary, thus this diagnosis must be considered in any patient with acute or chronic liver disease. Doppler ultrasound, computed tomography, or magnetic resonance imaging of the hepatic veins and inferior vena cava usually successfully provide noninvasive identification of the obstruction or its consequences in the collaterals of hepatic veins or the inferior vena cava. The reported life expectancy in these patients is 3 years after the first symptoms. The therapeutic strategy includes first, anticoagulation, correction of risk factors, diuretics, and prophylaxis for portal hypertension, then angioplasty for short-length venous stenosis followed by transjugular intrahepatic portosystemic shunt (TIPS) and finally liver transplantation. The progression of treatment is based on the response to therapy at each step. This strategy results in a 5-year survival rate of nearly 85%. The medium-term prognosis depends upon the severity of liver disease, and the long-term outcome can be jeopardized by transformation of underlying conditions and hepatocellular carcinoma.
Conclusion
BCS/HVOTO hepatic manifestations of BCS/HVOTO can be controlled in most patients with medical or radiological interventions. Underlying disease has become the major determinant of patient outcome.
Primary Budd-Chiari syndrome is characterized by a blocked hepatic venous outflow tract at various levels from small hepatic veins to inferior vena cava, resulting from thrombosis or its fibrous ...sequellae. This rare disease affects mainly young adults. Multiple risk factors have been identified and are often combined in the same patient. Myeloproliferative diseases of atypical presentation account for nearly 50% of patients; their diagnosis can be made by showing the V617F mutation in Janus tyrosine kinase-2 gene of peripheral blood granulocytes and, should this mutation be absent, by showing clusters of dystrophic megacaryocytes at bone marrow biopsy. Presentation and manifestations are extremely varied, so that the diagnosis must be considered in any patient with acute or chronic liver disease. Doppler-ultrasound, computed tomography or magnetic resonance imaging of hepatic veins and inferior vena cava are usually successful in demonstrating non-invasively the obstacle or its consequences, the collaterals to hepatic veins or inferior vena cava. The disease is considered to be spontaneously lethal within 3 years of first symptoms. A therapeutic strategy has been proposed where anticoagulation, correction of risk factors, diuretics and prophylaxis for portal hypertension are used first; then angioplasty for short-length venous stenoses; then TIPS; and ultimately liver transplantation. Treatment progression is dictated by the response to previous therapy. This strategy has achieved 5-year survival rates approaching 90%. Medium-term prognosis depends on the severity of liver disease. Long-term outcome might be jeopardized by transformation of underlying conditions and hepatocellular carcinoma.
Primary Budd–Chiari Syndrome Garcia-Pagán, Juan Carlos; Valla, Dominique-Charles
The New England journal of medicine,
04/2023, Letnik:
388, Številka:
14
Journal Article
Recenzirano
BCS is a lethal disease characterized by an obstruction of the hepatic venous outflow tract due to thrombosis or a primary disease of the venous wall. Recent advances have improved our understanding ...of BCS and its outcomes.
Summary To survey the burden of liver disease in Europe and its causes 260 epidemiological studies published in the last five years were reviewed. The incidence and prevalence of cirrhosis and ...primary liver cancer are key to understand the burden of liver disease. They represent the end-stage of liver pathology and thus are indicative of the associated mortality. About 0.1% of Hungarian males will die of cirrhosis every year compared with 0.001% of Greek females. WHO estimate that liver cancer is responsible for around 47,000 deaths per year in the EU. Harmful alcohol consumption, viral hepatitis B and C and metabolic syndromes related to overweight and obesity are the leading causes of cirrhosis and primary liver cancer in Europe. Chronic hepatitis B affects 0.5–0.7% of the European population. In the last decade the prevalence of chronic hepatitis C was 0.13–3.26%. It is of great concern that about 90% of people in Europe infected by viral hepatitis are unaware of their status. Available data suggest the prevalence rate of NAFLD is 2–44% in the general European population (including obese children) and 42.6–69.5% in people with type 2 diabetes. Each of these four major causes of liver disease is amenable to prevention and treatment, reducing the burden of liver disease in Europe and saving lives. Further surveys are urgently needed to implement cost-effective prevention programmes and novel treatments to tackle this problem.
In cirrhosis, portal vein thrombosis (PVT) could be a cause or a consequence of the progression of liver disease. We analyzed data from a prospective trial of ultrasound screening for hepatocellular ...carcinoma in order to identify risk factors for and the impact of PVT in patients with cirrhosis. In all, 1,243 adults with cirrhosis without PVT were enrolled from 43 liver units in France and Belgium between June 2000 and March 2006. The mean follow‐up was 47 months. Doppler ultrasonography was used to check the portal vein. Progression of liver disease was defined by the development of: ascites, hepatic encephalopathy, variceal bleeding, prothrombin <45%, serum bilirubin >45 μmol/L, albumin <28 g/L, and/or creatinine >115 μmol/L. G20210A prothrombin and factor V gene mutations were assessed in sera stored at three large centers. The 5‐year cumulative incidence of PVT was 10.7%. PVT was mostly partial and varied over time. The development of PVT was independently associated with baseline esophageal varices (P = 0.01) and prothrombin time (P = 0.002), but not with disease progression before PVT, or prothrombotic mutations. Disease progression was independently associated with baseline age (hazard ratio HR 1.55; 95% confidence interval CI: 1.11‐2.17), body mass index (HR 1.40; 95% CI: 1.01‐1.95), prothrombin time (HR 0.79; 95% CI: 0.70‐0.90), serum albumin (HR 0.97; 95% CI: 0.94‐0.99), and esophageal varices (HR 1.70; 95% CI: 1.21‐2.38) but not with the prior development of PVT (HR 1.32; 95% CI: 0.68‐2.65). Conclusion: In patients with cirrhosis, the development of PVT is associated with the severity of liver disease at baseline, but does not follow a recent progression of liver disease. There is no evidence that the development of PVT is responsible for further progression of liver disease. (Hepatology 2015;61:660‐667)
Sinusoidal obstruction syndrome Valla, Dominique-Charles; Cazals-Hatem, Dominique
Clinics and research in hepatology and gastroenterology,
09/2016, Letnik:
40, Številka:
4
Journal Article
Recenzirano
Odprti dostop
Summary Sinusoidal obstruction syndrome (SOS) is characterized by damage to small hepatic vessels affecting particularly sinusoidal endothelium. Damaged sinusoids can be associated with a partial or ...complete occlusion of small hepatic veins, hence the previous denomination of hepatic veno-occlusive disease (VOD). Exposure to certain exogenous toxins appears to be specific to this condition and is frequently included in its definition. Typical histopathological features of SOS in a liver biopsy specimen are presented in the text. The purpose of this article is to provide an overview on the different entities corresponding to this general definition. Such entities include: (i) liver disease related to pyrrolizidine alcaloids; (ii) liver injury related to conditioning for hematopoietic stem cell transplantation; (iii) vascular liver disease occurring in patients treated with chemotherapy for liver metastasis of colorectal cancer; and (iv) other liver diseases related to toxic agents.
Primary Budd-Chiari Syndrome. Reply Valla, Dominique-Charles; Garcia-Pagán, Juan Carlos
The New England journal of medicine,
08/2023, Letnik:
389, Številka:
8
Journal Article
Abstract Liver sinusoidal endothelial cells (LSECs) are highly specialized endothelial cells representing the interface between blood cells on the one side and hepatocytes and hepatic stellate cells ...on the other side. LSECs represent a permeable barrier. Indeed, the association of fenestrae , absence of diaphragm and lack of basement membrane make them the most permeable endothelial cells of the mammalian body. They also have the highest endocytosis capacity of human cells. In physiological conditions, LSECs regulate hepatic vascular tone contributing to the maintenance of a low portal pressure despite the major changes in hepatic blood flow occurring during digestion. LSECs maintain hepatic stellate cell quiescence, thus inhibiting intrahepatic vasoconstriction and fibrosis development. In pathological conditions, LSECs play a key role in the initiation and progression of chronic liver diseases. Indeed, they become capillarized and lose their protective properties, and they promote angiogenesis and vasoconstriction. LSECs are implicated in liver regeneration following acute liver injury or partial hepatectomy since they renew from LSECs and/or LSEC progenitors, they sense changes in shear stress resulting from surgery, and they interact with platelets and inflammatory cells. LSECs also play a role in hepatocellular carcinoma development and progression, in aging, and in liver lesions related to inflammation and infection. This review also presents a detailed analysis of the technical aspects relevant for LSEC analysis including the markers these cells express, the available cell lines and the transgenic mouse models. Finally, this review provides an overview of the strategies available for a specific targeting of LSECs.
Sinusoidal dilatation found in the absence of an impaired sinusoidal blood outflow has been so far of unclear significance. Sinusoidal dilatation may actually be a nonspecific feature of impaired ...portal venous blood inflow, whatever the cause, or a feature of severe systemic inflammatory reaction syndrome, whatever the cause. Sinusoidal dilatation is mainly located in the centrilobular area even in the absence of an outflow block. A predominantly periportal location is specifically found in oral contraceptive users, associated with an inflammatory condition. There is strong evidence for the association of sinusoidal dilatation and oxaliplatin‐based chemotherapy but not for estroprogestative steroids or thiopurine derivatives. Exposure to anabolic androgen steroids appears to cause sinusoidal changes different from a mere sinusoidal dilatation. Conclusion: There is evidence of activation of the interleukin‐6 and vascular endothelial growth factor pathways in sinusoidal dilatation, but the mechanisms linking the activation of these pathways with the microvascular changes must be identified. (Hepatology 2015;62:956–963)
PDF
