Primary Budd-Chiari Syndrome Research Articles

Early radiological intervention and haematology screening is associated with excellent outcomes in Budd-Chiari syndrome.

Budd-Chiari syndrome (BCS) is a rare and life-threatening disorder, resulting from thrombosis of the hepatic veins. Various treatments, including pharmacological, radiological and surgical interventions, have been used. To describe retrospectively our institution's experience with management of patients with BCS. A retrospective study of all cases of primary Budd-Chiari syndrome presenting to our institution between January 2000 and August 2012 was performed. Patients with secondary Budd-Chiari syndrome due to malignancy or local mass compression were excluded. Between 2000 and 2012, 27 patients with primary BCS presented with a median Rotterdam score of 1.16 (range: 0.07-2.11). A total of 24 patients (89%) had at least one risk factor, with the commonest being myeloproliferative neoplasm (MPN), detected in 17 of 24 (71%) of the tested patients, including four patients with normal blood counts at diagnosis. All patients were anticoagulated with warfarin or low-molecular-weight heparin (LMWH). A total of 25 (92.6%) patients also had primary radiological interventions, consisting of transjugular intrahepatic portosystemic shunt (TIPS) in 18 (67%) patients and/or angioplasty/stenting in 11 (40%). A total of 14 patients developed TIPS stenoses, requiring a median of 1.5 (range: 1-14) revisions. No patient developed TIPS failure requiring alternative therapy. Two patients were lost to follow-up. At a median follow up of 59 months (range: 2-248 months), the overall survival was 96% at 1 year and 81% at 5 years, much greater than predicted by the Rotterdam score. No patients required liver transplantation. There is a high incidence of MPN in patients with primary BCS, including patients with normal peripheral blood counts at the time of diagnosis. Our approach of anticoagulation, aggressive and early radiological intervention aimed at rapid decompression of the congested liver resulted in excellent medium-term outcomes.

Accessory hepatic vein stenting to treat primary Budd-Chiari syndrome

Objective To study the safety and efficacy of accessory hepatic vein (AHV) stenting to treat primary Budd-Chiari syndrome (BCS). Methods The clinical data of 20 BCS patients with AHV ostial stenosis or occlusion were retrospectively analyzed. These 20 patients underwent balloon dilation and AHV stenting. Thirteen patients underwent AHV stenting via the right jugular vein approach, 5 patients via the right femoral vein approach, and 2 patients via the percutaneous transhepatic combined with the right femoral vein approach. On follow-up, patency of the AHV stent was evaluated by color Doppler ultrasound. The cumulative primary and secondary patency rates were assessed with the Kaplan-Meier curves. Results AHV stenting was successful in 20 patients. Angiography showed that the AHV was patent after stenting. The mean pressure gradient between the AHV and the inferior vena cava reduced from (19.2±4.8) cmH2O (1 cmH2O=0.098 kPa) before treatment to (4.5±1.9) cmH2O after treatment (t=7.119, P<0.01). During the procedure, rupture of the AHV caused by balloon dilation occurred in one patient. This was treated successfully by a covered stent placement. On follow-up from l to 80 months [ (32.1±27.4) months] after treatment for the 20 patients, re-stenosis of the AHV were found in 5 patients. They were treated successfully with re-dilation. The cumulative 1-, 3-, and 5-year primary patency rates were 100%, 85.1% and 74.5%, respectively. The cumulative 1-, 3-, and 5-year secondary patency rates were 100%, 90.9% and 90.9%, respectively. One patient died of hepatic failure 3 years after the treatment. Conclusion AHV stenting was a safe and efficacious treatment for BCS and it provided good mid- and long-term results. Key words: Budd-Chiari syndrome; Accessory hepatic vein; Stent placement

Primary Budd-Chiari Syndrome in Children: King's College Hospital Experience.

Primary Budd-Chiari syndrome is a rare cause of liver disease in children in the western world. Here we present a retrospective review of children with Primary Budd-Chiari syndrome presenting from January 2001 to November 2015 to our hospital. Seven children were identified. Their presentation was mostly chronic. All had predisposing factors for thrombosis and were started on anticoagulation. Radiological interventions (2 transjugular intrahepatic portosystemic shunts and 1 hepatic vein stenting), liver transplant and mesocaval shunt were done in 3, 2, and 1 patients, respectively; 1 child underwent bone marrow transplantation following transjugular intrahepatic portosystemic shunts and 1 child was managed only medically. After liver transplantation, one child died 3 years later as a result of subarachnoid haemorrhage, whereas others remain well at a median follow-up of 6 years. Despite high morbidity, the disease can have a good long-term outcome with a multidisciplinary approach.

Association of janus kinase 2 with primary Budd–Chiari syndrome in Egyptian patients

Objective The aim of this study was to evaluate the association of janus kinase 2 (JAK2) V617F mutation with primary Budd–Chiari syndrome (BCS) in Egyptian patients. Background BCS is a rare disorder caused by thrombosis of the hepatic veins or the terminal portion of the inferior vena cava. JAK2 V617F mutation is an objective tool for diagnosing BCS patients. Patients and methods This study was conducted on 50 patients: 35 patients with primary BCS, and 15 age-matched and sex-matched healthy individuals who were taken as the control group. Patient and control groups were subjected to full history taking, general clinical examination, and laboratory investigations including measurement of complete blood count; liver function tests – serum aspartate aminotransferase and serum alanine aminotransferase (ALT), total and direct bilirubin, serum albumin, prothrombin time, partial thromboplastin time, and international normalized ratio; and renal function tests – serum blood urea and serum creatinine. Genotyping of JAK2 mutation was performed by PCR-RFLP method to diagnose the underlying etiology of BCS. Results There was a statistically significant difference between patients and controls regarding hemoglobin, platelets, ALT, aspartate aminotransferase, direct and total bilirubin, albumin, prothrombin time, partial thromboplastin time, international normalized ratio, urea, and creatinine. There was no statistically significant difference between studied patients and control groups regarding JAK2 mutations. Mutant form of JAK2 had significantly increased platelets count and ALT serum levels than wild form, whereas there was no significant difference regarding other laboratory parameters. Conclusion JAK2 V617F mutation was not significantly different between patients and controls.

Validation of prognostic indices in Egyptian Budd-Chiari syndrome patients: A single-center study.

AIMTo compare predictive ability of Budd-Chiari syndrome (BCS) prognostic indices (PIs) for one-year survival and Transjugular intrahepatic portosystemic shunt (TIPS) patency.METHODSThis retrospective study enrolled 194 Egyptian patients with primary BCS who presented to the Budd-Chiari Study Group of Ain Shams University Hospital. Calculation of the available PIs was performed using Child-Pugh and model for end-stage liver disease scores, BCS-specific PIs (Clichy, New Clichy and Rotterdam) for all patients, and BCS-TIPS PI only for patients who underwent TIPS. The overall one-year survival rate and the one-year shunt patency rate for TIPS were reported.RESULTSThe overall one-year survival rate was 69.6%, and the New Clichy PI revealed the best validity for its prediction at a cut-off value of 3.75, with sensitivity and specificity of 78% and 73.3%, respectively [area under receiver operating characteristic curve (AUC) = 0.806]. The one-year survival rate post-TIPS was 89.7%, and the BCS-TIPS score demonstrated validity for its prediction at a cut-off value of 3.92 (sensitivity and specificity were 71.4% and 64.5%, respectively) (AUC = 0.715). Logistic regression analysis revealed that the New Clichy PI (P = 0.030), high serum total bilirubin (P = 0.047) and low albumin (P < 0.001) were independent factors for predicting mortality within one year. The one-year shunt patency rate in TIPS was 80.2%, and none of the PIs exhibited significant validity for its prediction.CONCLUSIONThe New Clichy score could independently predict the one-year survival in Egyptian BCS patients.

Budd-Chiari Syndrome in a Patient with JAK-2 Mutation without Myeloprolifrative Disorder

A 41-year-old woman presented with right upper quadrant abdominal pain, found to have a primary buddchiari syndrome secondary to right hepatic vein thrombosis. Her thrombophilia workup revealed a JAK2 mutation is a setting of no signs of myeloproliferative disorders. JAK2V617F mutation could be a pro-coagulant to thrombosis even without myeloprolifrative disorders.

Number and function of circulating endothelial progenitor cells in patients with primary Budd-Chiari syndrome

Primary Budd-Chiari syndrome (BCS) is associated with vascular endothelial injury. Circulating endothelial progenitor cells (EPCs) provide an endogenous mechanism to repair endothelial injury. This study investigated the levels and functionality of EPCs in patients with primary BCS. EPCs (CD34+/CD133+/KDR+) were quantified in 82 patients with primary BCS (inferior vena cava type: n=19; hepatic vein type: n=22; and mixed type: n=41), 10 cirrhosis controls (CC group) and 10 age-matched healthy controls (HC group), using flow cytometry. EPCs proliferation was detected by MTT assay, adhesion by adhesion activity assay, and migration capacity by Transwell assay. EPCs levels were significantly lower in the BCS group (0.020±0.005%) than in the CC and HC groups (0.260±0.201%, 0.038±0.007%; P<0.001 for each). EPCs cultured in vitro from BCS and CC groups had, respectively, lower proliferation activity (0.20±0.04, 0.23±0.06 vs 0.58±0.07, each P<0.001), adhesion activity (15.8±1.7, 18.2±4.3 vs 35.0±2.5 cells/random microscopic field (RMF), each P<0.001) and migration activity (16.1±1.5, 16.7±3.0 vs 23.9±2.0 cells/RMF, each P<0.001) than in the HC group. EPCs functionality did not significantly differ between the BCS and CC groups. The numbers and functions of EPCs did not significantly differ among patients with inferior vena cava type, hepatic vein type and mixed type of BCS. Patients with primary BCS had lower EPCs levels, with less proliferation, adhesion and migration activities. These findings suggest that lower levels of less functional EPCs may be associated with venous occlusion in primary BCS patients.

Long-term Outcome and Analysis of Dysfunction of Transjugular Intrahepatic Portosystemic Shunt Placement in Chronic Primary Budd-Chiari Syndrome.

Purpose To evaluate the long-term safety, technical success, and efficacy of transjugular intrahepatic portosystemic shunt (TIPS) in a series of patients with Budd-Chiari syndrome (BCS), and to determine the predictors of shunt dysfunction. Materials and Methods From 2004 to 2013, all patients with primary BCS referred for TIPS placement were included in the study. The primary and secondary technical success rates and the number and types of early (ie, before day 7) complications were noted. Factors associated with dysfunction were analyzed with uni- and multivariate analyses. Survival was analyzed with Kaplan-Meier curves. Results Fifty-four patients (34 women [63%]; mean age, 36 years ± 12 [standard deviation]) were included. Twenty-eight patients (52%) had myeloproliferative neoplasms. The mean Model for End-Stage Liver Disease score was 14.5 ± 4. The most frequent indication for TIPS was refractory ascites (50 of 54; 93%). Primary and secondary technical success rates were 93% and 98%, respectively. Early complications occurred in 17 patients (32%). After a mean follow-up of 56 months ± 41 (interquartile range, 22-92), 22 patients (42%) experienced at least one episode of TIPS dysfunction (median delay between administration of TIPS and first episode of dysfunction, 10.8 months). Cumulative 1-, 2-, 3-, 5-, and 10-year primary patency rates were 64%, 59%, 54%, 45%, and 45%, respectively. Dysfunction was associated with a myeloproliferative neoplasm (hazard ratio, 8.18; 95% confidence interval: 1.45, 46.18; P = .017), more than two initial stents (hazard ratio, 3.90; 95% confidence interval:1.16, 13.10; P = .027), and the occurrence of early complications (hazard ratio, 11.34; 95% confidence interval: 1.82, 70.69; P = .009). The 10-year survival rate was 76%. Conclusion TIPS placement in patients with chronic primary BCS was associated with a nonnegligible rate of early complications and required endovascular revision or revisions in 42% of patients. Nevertheless, secondary patency was close to 100%, and long-term survival was good. © RSNA, 2016 Online supplemental material is available for this article.

Review article: the aetiology of primary Budd-Chiari syndrome - differences between the West and China.

China may have the largest number of Budd-Chiari syndrome (BCS) cases in the world (at least 1914 original papers were published, and at least 20 191 BCS patients were reported). Considering the discrepancy in the clinical profiles and preferred treatment selection of primary BCS between the West and China, understanding its aetiology in these two different regions is very important. To review the data from large cohort studies and meta-analyses to illustrate the epidemiology of risk factors for BCS in the West and China. Relevant papers were identified by major English- and Chinese-language databases, conference abstracts, and by manual search. Risk factors reviewed include myeloproliferative neoplasms (MPNs) and their related gene mutations, anti-phospholipid syndrome, paroxysmal nocturnal haemoglobinuria (PNH), hyperhomocysteinaemia and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation, factor V Leiden (FVL) and prothrombin G20210A mutations, inherited anti-thrombin, protein C and protein S deficiencies, pregnancy and puerperium, poverty, and family history. We examined the differences in the aetiological distribution of BCS between the West and China. Several recommendations should be considered in Chinese BCS patients: (i) screening for hyperhomocysteinaemia and MTHFR mutation should be regularly performed; (ii) screening for MPNs, PNH, and anti-phospholipid syndrome should be selectively performed; (iii) inherited anti-thrombin, protein C, and protein S deficiencies should be actively explored; (iv) screening for FVL and prothrombin G20210A mutations may be unnecessary; and (v) the clinical significance of pregnancy and puerperium, poverty with bacterial infections and unsanitary environments, and family history as possible risk factors should never be neglected.

Characteristics of hepatocellular carcinoma in Egyptian patients with primary Budd-Chiari syndrome.

Budd-Chiari syndrome (BCS) is caused by hepatic venous outflow obstruction. This work aimed at analyzing characteristics and factors associated with development of hepatocellular carcinoma (HCC) in patients with primary BCS. A total of 348 Egyptian BCS patients were included. They were presented to the Budd-Chiari Study Group of Ain Shams University Hospital. BCS was confirmed using abdominal Doppler US. Abdominal magnetic resonance imaging (MRI), MR venography and/or multislice computed tomography (CT) were performed to confirm all diagnoses and to assess vascular anatomy. Hepatic focal lesions detected during the study period (2005-2011) were evaluated using serum alpha foetoprotein (AFP) level, imaging features and histopathological examination. Diagnosis of HCC was confirmed in 15/348 patients (4.3%). Imaging studies showed that 60% had multiple hepatic focal lesions ranging from 2 to 6.3cm in size. The median level of serum AFP in BCS with HCC was 300ng/mL vs 11ng/mL in those without HCC (P<.001). A cut-off level >24.5ng/mL for serum AFP showed sensitivity 80%, specificity 97.9%, positive predictive value 93.18% and negative predictive value 99.1% for detection of HCC in BCS patients. Male gender, older age, cigarette smoking, serum AFP (>24.5ng/mL) and shrunken liver by ultrasonography were independent factors associated with HCC development. Male gender, older age and cigarette smoking are independent risk factors for development of HCC in BCS. Serum AFP is a good screening test in BCS.

Endovascular Management of Budd-Chiari Syndrome with Inferior Vena Cava Thrombosis: A 14-Year Single-Center Retrospective Report of 55 Patients

PurposeTo evaluate safety and efficacy of balloon dilation and stent placement combined with thrombus aspiration and thrombolysis to treat patients with Budd-Chiari syndrome (BCS) with inferior vena cava (IVC) thrombosis. Materials and MethodsCharts from 55 consecutive patients with primary BCS and IVC thrombosis treated between April 2000 and August 2014 were retrospectively analyzed. Transcatheter aspiration and percutaneous recanalization were attempted in all patients, and stents were placed if balloon dilation was successful. Catheter-directed thrombolysis was performed when evident clot burden was present after recanalization. ResultsTechnically successful IVC recanalization was achieved in 53 of 55 patients (96.4%). Technical failures in 2 patients were due to long segment of IVC obstruction. A stent was placed in 47 of 53 patients (88.7%). Thrombus was successfully aspirated in 23 patients, and thrombolytic treatment was administered to 13 patients. Median follow-up was 58 months (range, 8–180 mo). No symptomatic pulmonary embolism occurred. Reocclusion occurred in 8 patients, and 6 of these patients (75%) underwent repeat recanalization by balloon dilation with or without stents. Cumulative 1-, 5-, and 10-year primary patency rates were 94%, 89%, and 66%. Alanine transaminase and alkaline phosphatase levels were independent risk factors for reocclusion. Cumulative 1-, 5-, and 10-year survival rates were 90%, 86%, and 86%. Child-Pugh score and reocclusion were independent predictors of survival. ConclusionsPercutaneous vena caval balloon dilation and stent placement with thrombus aspiration and thrombolytic therapy is safe and effective for treatment of patients with BCS and IVC thrombosis.

Risk factors for and causes and treatment of recurrence of inferior vena cava type of Budd-Chiari syndrome after stenting in China: A retrospective analysis of a large cohort.

To explore the risk factors for recurrence of inferior vena cava (IVC)-type Budd-Chiari syndrome (BCS) after stenting and evaluate the feasibility and primary outcomes of endovascular therapies for recurrent BCS. A retrospective analysis of 219 patients was performed to identify risk factors for recurrence. The images of the recurrent patients during follow-up duration and interventional surgery were also reviewed to find the possible reasons of recurrence. The outcome of endovascular therapies for recurrent BCS was evaluated by Kaplan-Meier analysis. Among the 219 patients, 172 patients with primary IVC-type BCS underwent stenting and 28 patients experienced recurrence. Multivariate analysis identified age, Child-Pugh score, MELD and total bilirubin as independent recurrent indicators. Possible causes of recurrence include thrombosis in the stent, re-obstruction in or above the stent, and stent-related hepatic vein obstruction. Twenty-five patients with recurrent BCS underwent endovascular therapies with a few complications and achieved a high level of short- and mid-term patency. Age, total bilirubin and severity of liver function are the main risk factors for BCS recurrence. These risks might contribute to thrombosis or subsequent fibrous obstruction. Endovascular therapies are effective and safe management options that yield positive outcomes for recurrent BCS. • Risk factors for recurrent Budd-Chiari syndrome were identified by multivariate analysis. • Causes of recurrent Budd-Chiari syndrome were investigated by assessing radiological images. • There is a correlation between risk factors and causes of recurrence. • Endovascular therapies for recurrent Budd-Chiari syndrome are effective and safe.

Budd-Chiari Syndrome in Young Chinese: Clinical Characteristics, Etiology and Outcome of Recanalization from a Single Center.

We aimed to characterize the clinical profile, etiology, and outcomes of young Chinese patients with Budd-Chiari syndrome treated with recanalization. A total of 35 consecutive young patients (≤25 years of age) with primary Budd-Chiari syndrome treated with recanalization at our center were enrolled in this study between March 2011 and December 2014. Data on baseline information, etiology tests, therapeutic recanalization strategies, and follow-up were collected. The most common clinical feature was ascites, present in 33 cases (94%). Hepatic vein obstruction was present in 60% (21/35) of patients, inferior vena cava obstruction in 3% (1/35), and combined obstruction in 37% (13/35). The most common risk factor for thrombosis was hyperhomocysteinemia (14/35, 40%). Recanalization was technically successful in 32 of 35 patients (91%), and clinically successful in 28 of these 32 patients (88%). The cumulative 1- and 3-year primary patency rates were 75.2 and 54.3%, respectively. The cumulative 1- and 3-year secondary patency rates were 89.3 and 89.3%, respectively. The cumulative 1- and 3-year survival rates were 96.9 and 93.8%, respectively. In this study, the most common type of lesion was hepatic vein obstruction, the most common thrombotic risk factor was hyperhomocysteinemia, and recanalization resulted in good mid-term outcomes in young Chinese patients with Budd-Chiari syndrome.

Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients.

Budd-Chiari syndrome (BCS) is defined as obstruction of hepatic venous outflow anywhere from the small hepatic veins to the suprahepatic inferior vena cava. The pathogenesis of BCS is still not fully understood. This study aimed to evaluate the association of factor V Leiden (FVL), Janus kinase 2 (JAK2), prothrombin, and methylene tetrahydrofolate reductase (MTHFR) mutations with primary BCS. The study was carried out on 35 patients with primary BCS and 15 age and gender matched healthy individuals as a control group. Genotyping of FVL, prothrombin, and MTHFR mutations was determined by GENEQUALITY AB-THROMBO TYPE kit based on the reverse hybridization principle. JAK2 mutation was determined by polymerase chain reaction-restriction fragment length polymorphism. There was a statistically significant difference between patients and controls regarding FVL, MTHFR C677T, and MTHFR A1298C mutations with odds ratio of 1.83, 2.0, and 1.79, respectively. Hetero MTHFR C677T, hetero FVL, and hetero MTHFR A1298C were the most common etiological factors being responsible for 57.1, 42.9, and 42.9% of primary BCS cases, respectively. It could be concluded that BCS is a multifactorial disease; in the current study, MTHFR C677T mutation was the most common cause of disease. Identification of one cause of BCS should not eliminate investigations for detection of other etiological factors.

Combined Protein C and Protein S Deficiency Presenting as Primary Budd-Chiari Syndrome in a 23-Year-Old Filipino Woman

Budd - Chiari Syndrome (BCS) is an uncommon hepatic vascular disorder affecting approximately 1 in every 2.5 million people worldwide often presenting as a sub - acute to chronic hepatic failure. Primary BCS, an even rarer subset of BCS, is described as the presence of intrinsic hepatic venous compression and occurs in 1 in every 6 million population. Primary BCS has often been attributed to hematologic disorders, more commonly myeloproliferative disorders, such as Polycythemia Vera, and in fewer cases, inherited thrombophilias, such as Protein C (PC) and Protein S (PS) deficiency, of which such cases are noted to be exceedingly rare. The authors describe a case of a 23-year-old Filipino female who was admitted on multiple occasions at a tertiary private hospital for over the course of a year, initially for complaints of epigastric pain and increasing abdominal girth. A review of the patient's past medical history was largely unremarkable with no familial cancers nor hepatitis infections noted, with the absence of oral contraceptive use. Initial workup consisted of serum chemistries and serology which yielded non specific and unremarkable findings. A series of imaging studies were then conducted - an initial screening abdominal ultrasound revealed an unremarkable biliary system and non specific structural hepatic parenchymal changes. A biopsy of the liver was taken revealing non specific venous congestion. The patient was then subjected to serial abdominal CT scans over the course of 6 months, which finally revealed complete absence of opacification of hepatic veins with a pattern suspicious for the presence of a thrombus, further mottled enhancement of the liver and splenic parenchyma due to congestion, all of which werefindings compatible with a Budd - Chiari Syndrome. Referral to a hematologist was carried out with thrombophilia workup done revealing decreased Protein C (Results: 32.2%,[Ref. Range: 70-140%]) and decreased Protein S (Results: 56%[Ref. Range: 60-140%]) results. The patient was then appraised of the eventual need for hepatic transplantation with a DIPS procedure contemplated.However, the patient eventually died from complications. This clinical case report documents an ethnic Filipino patient diagnosed with Primary BCS secondary to combined PC and PS deficiency, a subset of BCS that is both extremely rare and is not known to have previously occured in this population group. The authors cite this case to highlight both the need for diagnostic suspicion in cases of fulminant hepatic failure in the young and intend for it to be an early contribution to potential population based studies on BCS.Figure 1Figure 2

Budd-Chiari syndrome: a prospective analysis of hepatic vein obstruction on ultrasonography, multidetector-row computed tomography and MR imaging.

The goal of this study was to prospectively describe the imaging presentation of hepatic vein (HV) obstruction in patients with Budd-Chiari syndrome (BCS) on duplex and color Doppler ultrasonography (DCD-US), multidetector-row computed tomography (MDCT) and magnetic resonance imaging (MRI). A total of 176 patients with primary BCS (mean age, 33 years; 101 women) were prospectively included. BCS diagnosis was made by direct visualization of HV and/or upper portion of the inferior vena cava (IVC) obstruction on DCD-US and/or MDCT and/or MRI. Location (right, middle, and left HV), type (thrombus, stenosis, or both), and age (recent vs. long-standing) of HV obstruction were described on each imaging examination. HV obstruction was a constant (100%) finding and associated with IVC abnormalities in 51/176 (28.98%) patients. Obstruction of the three HVs was present in 158/176 (89.77%) patients. The prevalences of right, middle, and left HV thrombus were 151/169 (89.35%), 146/169 (86.39%), and 111/169 (65.68%), respectively. Long-standing HV thrombus was observed in more than 92% of patients on the three imaging methods. Agreement between DCD-US, MDCT, and MRI was perfect in the identification of long-standing HV thrombus (κ = 0.9); this agreement was slight to moderate in revealing the type of HV abnormality (i.e., fibrotic cord and non-visible HV). Our results indicate that BCS is a chronic and insidious disease, more often discovered at an advanced stage. These results should warrant further evaluation of screening strategies in patients with risk factors for BCS to identify the disease at an early stage.

The Significance of Serum CA-125 Elevation in Chinese Patients with Primary Budd-Chiari Syndrome: A Multicenter Study.

Objective. To investigate the serum level of CA-125 and its corresponding clinical significance in Chinese patients with primary BCS. Methods. Serum CA-125 was measured in 243 patients with primary BCS receiving interventional treatment in the participating hospitals and in 120 healthy volunteers. The correlation between serum CA-125 levels and ascites volume, liver function, and prognosis was analyzed. Results. Serum CA-125 was significantly elevated in BCS patients compared to healthy volunteers (P < 0.001). Higher levels of CA-125 were found in BCS patients with abnormal hepatic function and low serum albumin levels and in patients with high volume of ascites compared to patients without these abnormalities. Serum CA-125 levels significantly correlated with ascites volume, serum level of alanine aminotransferase, aspartate aminotransferase, albumin, and Rotterdam BCS scores. The follow-up study indicated that the survival rate and asymptomatic survival rate after interventional treatment were lower in BCS patients with serum CA-125 > 175 U/mL (P < 0.05). Conclusion. Serum CA-125 was significantly higher in patients with primary BCS and had a positive correlation with the volume of ascites, severity of liver damage, and poor prognosis. Thus the serum CA-125 levels may be used to estimate the severity and prognosis of BCS in Chinese patients.

Liver cirrhosis in hepatic vena cava syndrome (or membranous obstruction of inferior vena cava).

Hepatic vena cava syndrome (HVCS) also known as membranous obstruction of inferior vena cava reported mainly from Asia and Africa is an important cause of hepatic venous outflow obstruction (HVOO) that is complicated by high incidence of liver cirrhosis (LC) and moderate to high incidence of hepatocellular carcinoma (HCC). In the past the disease was considered congenital and was included under Budd-Chiari syndrome (BCS). HVCS is a chronic disease common in developing countries, the onset of which is related to poor hygienic living condition. The initial lesion in the disease is a bacterial infection induced localized thrombophlebitis in hepatic portion of inferior vena cava at the site where hepatic veins open which on resolution transforms into stenosis, membrane or thick obstruction, and is followed by development of cavo-caval collateral anastomosis. The disease is characterized by long asymptomatic period and recurrent acute exacerbations (AE) precipitated by clinical or subclinical bacterial infection. AE is managed with prolonged oral antibiotic. Development of LC and HCC in HVCS is related to the severity and frequency of AEs and not to the duration of the disease or the type or severity of the caval obstruction. HVOO that develops during severe acute stage or AE is a pre-cirrhotic condition. Primary BCS on the other hand is a rare disease related to prothrombotic disorders reported mainly among Caucasians that clinically manifest as acute, subacute disease or as fulminant hepatic failure; and is managed with life-long anticoagulation, porto-systemic shunt/endovascular angioplasty and stent or liver transplantation. As epidemiology, etiology and natural history of HVCS are different from classical BCS, it is here, recognized as a separate disease entity, a third primary cause of HVOO after sinusoidal obstruction syndrome and BCS. Understanding of the natural history has made early diagnosis of HVCS possible. This paper describes epidemiology, natural history and diagnosis of HVCS and discusses the pathogenesis of LC in the disease and mentions distinctive clinical features of HVCS related LC.

Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China.

Myeloproliferative neoplasms (MPNs) are the leading cause of Budd-Chiari syndrome (BCS), and the C allele of JAK2 rs4495487 was reported to be an additional candidate locus that contributed to MPNs. In the present study, we examined the role of JAK2 rs4495487 in the etiology and clinical presentation of Chinese BCS patients. 300 primary BCS patients and 311 healthy controls were enrolled to evaluate the association between JAK2 rs4495487 polymorphism and risk of BCS. All subjects were detected for JAK2 rs4495487 by real-time PCR. Results. The JAK2 rs4495487 polymorphism was associated with JAK2 V617F-positive BCS patients compared with controls (P < 0.01). The CC genotype increased the risk of BCS in patients with JAK2 V617F mutation compared with individuals presenting TT genotype (OR = 13.60, 95% CI = 2.04–90.79) and non-CC genotype (OR = 12.00, 95% CI = 2.07–69.52). We also observed a significantly elevated risk of combined-type BCS associated with CC genotype in the recessive model (OR = 4.44, 95% CI = 1.31–15.12). This study provides statistical evidence that the JAK2 rs4495487 polymorphism is susceptibility factor JAK2 V617F positive BCS and combined BCS in China. Further larger studies are required to confirm these findings.

Prevalence of Budd-Chiari Syndrome during Pregnancy or Puerperium: A Systematic Review and Meta-Analysis.

Women during pregnancy or puerperium are likely to develop Budd-Chiari syndrome (BCS). However, the reported prevalence of pregnancy-related BCS varied considerably among studies. Our study aims to systematically review this issue. Overall, 817 papers were initially identified via the PubMed, EMBASE, China National Knowledge Infrastructure, and Chinese Scientific and Technological Journal databases. Twenty of them were eligible. The prevalence of pregnancy-related BCS varied from 0% to 21.5%. The pooled prevalence was 6.8% (95% CI: 3.9–10.5%) in all BCS patients, 6.3% (95% CI: 3.8–9.4%) in primary BCS patients, and 13.1% (95% CI: 7.1–20.7%) in female BCS patients. Among them, one study was carried out in Africa with a prevalence of 10.6%; 14 studies in Asian countries with a pooled prevalence of 7.1% (95% CI: 3.1–12.6%); and 5 studies in European countries with a pooled prevalence of 5.0% (95% CI: 3.1–7.3%). The pooled prevalence was 6.7% (95% CI: 2.6–12.3%) in studies published before 2005 and 7.3% (95% CI: 4.2–12.5%) in those published after 2005. In conclusion, pregnancy is a relatively common risk factor for BCS, but there is a huge variation in the prevalence among studies. Physicians should be aware of pregnancy-related BCS.