Budd-Chiari Syndrome Research Articles

Prothrombotic States in Portal Vein Thrombosis and Budd-Chiari Syndrome in India: A Systematic Review and Meta-Analysis

Prothrombotic States in Portal Vein Thrombosis and Budd-Chiari Syndrome in India: A Systematic Review and Meta-Analysis

DDX24 Mutation Alters NPM1 Phase Behavior and Disrupts Nucleolar Homeostasis in Vascular Malformations.

Point mutations in the DEAD-box helicase DDX24 are associated with vascular malformations such as multi-organ venous and lymphatic defect (MOVLD) syndrome and Budd-Chiari syndrome, with the pathogenesis largely uncharacterized. DDX24 is mainly located in the nucleolus, where nucleophosmin (NPM1) regulates nucleolar homeostasis via liquid-liquid phase separation (LLPS). However, the connection between DDX24 and NPM1 in vascular malformation remains elusive. Here we demonstrated that DDX24 formed biomolecular condensates in vitro and the mutated DDX24 protein, DDX24E271K, partitioned less into the nucleoli in tissues from patients with MOVLD syndrome and cultured endothelial cells (ECs), altering nucleolar morphology. Furthermore, DDX24 was directly associated with NPM1 to regulate its phase behavior as a client in the nucleolar granular component (GC). Functionally, we showed that DDX24 was essential in maintaining nucleolar homeostasis of ECs and that either mutation or knockdown of DDX24 led to the dysfunction of ribosome biogenesis and the elevated capability of cell migration and tube formation. Our findings illustrate how DDX24 mutation affects nucleolar structure and function by regulating the phase behavior of NPM1 in the setting of vascular malformation.

Assessing the Complicated Venous Hemodynamics and Therapeutic Outcomes of Budd-Chiari Syndrome with Respiratory-gated 4D Flow MR Imaging During the Expiratory and Inspiratory Phases.

A man in his 50s with Budd-Chiari syndrome diagnosed with the suprahepatic inferior vena cava (IVC) obstruction on CT was assessed using 4D Flow MRI before and after balloon angioplasty. 4D Flow MRI acquired in two respiratory phases, depicted complex hemodynamic and respiratory variability, and a jet stream at the narrowed channel of the membranous IVC. Post-interventional 4D Flow MRI showed that the IVC blood flow increased with corrected flow directions in the infrarenal IVC.

Clinical spectrum and treatment outcome of Budd Chiari Syndrome in Coastal East India population-A Prospective Cohort study

Clinical spectrum and treatment outcome of Budd Chiari Syndrome in Coastal East India population-A Prospective Cohort study

Early Recipient Outcomes following Neo-Middle Hepatic Vein thrombosis in Modified Right Lobe Graft

Early Recipient Outcomes following Neo-Middle Hepatic Vein thrombosis in Modified Right Lobe Graft

Acute onset budd-chiari syndrome in the postpartum period

Acute onset budd-chiari syndrome in the postpartum period

Liver Stiffness in Budd-Chiari Syndrome Patients Following Endovascular Interventions And Its Role As A Non-Invasive Predictor In Assessing The Effectiveness Of Intervention Over A Period Of 6 Months.

Liver Stiffness in Budd-Chiari Syndrome Patients Following Endovascular Interventions And Its Role As A Non-Invasive Predictor In Assessing The Effectiveness Of Intervention Over A Period Of 6 Months.

Unique features of vaccine-induced immune thrombotic thrombocytopenia; a new anti-platelet factor 4 antibody-mediated disorder.

Vaccine-induced immune thrombotic thrombocytopenia (VITT) is a highly prothrombotic disorder caused by anti-PF4 antibodies that activate platelets and neutrophils, leading to thrombosis. Heparin-induced thrombocytopenia (HIT) is a related anti-PF4 mediated disorder, with similar pathophysiology and clinical manifestations but different triggers (i.e., heparin vs adenoviral vector vaccine). Clinically, both HIT and VITT typically present with thrombocytopenia and thrombosis, although the risk of thrombosis is significantly higher in VITT, and thethromboses occur in unusual anatomical sites (e.g., cerebral venous sinus thrombosis and hepatic vein thrombosis). The diagnostic accuracy of available laboratory testing differs between HIT and VITT; for VITT, ELISAs have better specificity compared to HIT and platelet activation assays require the addition of PF4. Treatment of VITT and HIT is anticoagulation non-heparin anticoagulants; however,heparin may be considered for VITT ifno other option isavailable.

Establishment and validation of a prediction model for the first recurrence of Budd–Chiari syndrome after endovascular treatment: a large sample size, single-center retrospective study

ObjectiveTo investigate the independent risk factors for the first recurrence after endovascular management in patients with Budd–Chiari syndrome (BCS), and to establish a prediction model for predicting recurrence in target patients.MethodsBCS patients who underwent endovascular treatment in the Affiliated Hospital of Xuzhou Medical University from January 2010 to December 2015 were retrospectively examined, with their clinical, laboratory test, and imaging data collected and analyzed. Independent risk factors for recurrence were identified, and a prediction model was established and validated.ResultsA total of 450 patients met the filtering criteria, and 102 recurred during the follow-up. The median follow-up time was 87 months, ranging from 1 to 137 months. The 1-, 3-, 5- and 10-year cumulative recurrence rate was 9.11% (6.41–11.73%), 17.35% (13.77–20.78%), 20.10% (16.30–23.72%), and 23.06% (18.86–27.04%), respectively. Liver cirrhosis, ascites, thrombosis, and all the main intrahepatic drainage veins obstructed (obstructed HV + AHV) are independent risk factors, while age is an independent protective factor. The prediction model was named MRBET. Based on the model, the risk score of each patient equals (−0.385981 * Age/10) + (0.0404184 * PT) + (0.0943423 * CRE/10) + (0.0157053 * LDH/10) + (0.592179 * LC) + (0.896034 * Ascites) + (0.691346 * Thrombosis) + (0.886741 * obstructed HV + AHV), and those in the high-risk group (risk score ≥ 1.57) were more likely to recur than those in the low-risk group (HR = 6.911, p < 0.001). The MRBET model is also available as a web tool at https://mrbet.shinyapps.io/dynnomapp.ConclusionLiver cirrhosis, ascites, thrombosis, and obstructed HV + AHV are independent risk factors for the first recurrence; age is an independent protective factor. The prediction model can effectively and conveniently predict the risk of recurrence and screen out patients at a high recurrence risk.

Inferior Vena Cava Anomalies and Pathologies

AbstractWide array of anatomical variations and pathologies affect the inferior vena cava (IVC). Multidetector computed tomography remains the most important modality to diagnose and evaluate the extent of involvement. The congenital variations such as duplication, anomalous course of renal veins, azygos continuation of IVC, etc., remain clinically indolent and are detected incidentally in abdominal imaging. This article describes the various congenital variants which include abnormalities in drainage, failure of development, and regression of the IVC. This article also highlights the important pathological conditions such as Budd–Chiari syndrome, primary and secondary neoplasms of the IVC, bland thrombosis, and retrograde opacification of the IVC.

Vascular Behçet syndrome: from pathogenesis to treatment.

Behçet syndrome is a rare, chronic inflammatory disease of unknown aetiopathogenesis, most commonly presenting with mucocutaneous and ocular manifestations. Vascular involvement, most frequently superficialvein and deepvein thrombosis, can occur in up to 50% of patients with Behçet syndrome. Venous thrombosis at atypical sites (inferior and superior vena cava, suprahepatic veins with Budd-Chiari syndrome, portal vein, cerebral sinuses and right atrium and/or ventricle) and arterial involvement (mostly in situ thrombosis and aneurysms of the pulmonary arteries, as well as aneurysms of the abdominal aorta, and peripheral and visceral arteries) are also unique features of Behçet syndrome. Behçet syndrome is considered a natural model of inflammation-induced thrombosis in humans, with an impaired immune-inflammatory response rather than traditional cardiovascular risk factors contributing to thrombogenesis. Specifically, neutrophil hyperactivation and neutrophil-mediated mechanisms of damage directly promote endothelial dysfunction, platelet activation and thrombogenesis in Behçet syndrome. This unusual pathogenesis directly determines the treatment approach, which relies mostly on immunosuppressants rather than anticoagulants for treatment of thrombosis and for secondary prevention. This Review discusses the main histopathological, pathogenetic and clinical aspects of vascular Behçet syndrome, addressing their implications for therapeutic management. Future perspectives in terms of pathogenetic studies, disease monitoring and treatment strategies are also discussed.

Comparison of clinical features of JAK2V617F gene mutation and non-mutation in patients with Budd-Chiari syndrome

Objective: To investigate the clinical features of JAK2V617F gene mutation and non-mutation in patients with Budd-Chiari syndrome (BCS). Methods: 17 and 127 BCS cases with JAK2V617F gene mutation (mutation group) and non-gene mutation (non-mutation group) who were continuously treated with interventional therapy between January 2016 to December 2020 in the Affiliated Hospital of Xuzhou Medical University were selected as the research object for a comparative study. The hospitalization and follow-up data of the two groups were analyzed retrospectively, and the deadline for follow-up was June 2021. Quantitative data group differences were analyzed using the independent sample t-test and Wilcoxon rank sum test. Qualitative data group differences were analyzed with χ2 test or Fisher's exact test. Mann-Whitney U test was used to analyze the differences between groups in rank data. Kaplan-Meier method was used to calculate the patient survival and recurrence rate. Results: Age [(35.41±17.10) years vs. (50.09±14.16) years, t=3.915, P<0.001], time of onset (median duration: 3 months vs. 12 months), and the cumulative survival rate (65.5% vs 95.1%; χ2=5.21, P=0.022) were lower in mutation than non-mutation group. Aaspartate aminotransferase, alanine aminotransferase, prothrombin time, Child-Pugh score, Rotterdam score, Model for End-stage Liver Disease score, hepatic vein thrombosis incidence, and the cumulative recurrence rate after intervention were higher in mutation than non-mutation group. The above all indexes had statistically significant differences (P<0.05) between the groups. Conclusion: Younger age, acute onset, severe liver injury, high incidence of hepatic vein thrombosis, and poor prognosis are the features of patients with BCS with JAK2V617F gene mutation than non-mutation.

Management of Acute Liver Dysfunction Due to Budd-Chiari Syndrome in the Setting of Tumor Thrombus and Advanced Renal Cell Carcinoma

A 53-year-old male presented with bilateral lower extremity (BLE) swelling, abdominal distention, dyspnea, and a newly identified, locally advanced 4.7 cm right renal mass with tumor thrombus (TT) extending into the inferior vena cava (IVC) up to the right atrium (RA) without evidence of distant metastases (Figure 1A). He was also found to have BLE deep vein thromboses (DVT) and was started on anticoagulation. Plans were made for nephrectomy with tumor thrombectomy; however, he developed transaminitis, worsening ascites, and BLE edema, necessitating transfer to the intensive care unit (ICU).

153: SPONTANEOUS CORONARY ARTERY DISSECTION FOLLOWING ORTHOTOPIC LIVER TRANSPLANTATION

Introduction: An infrequent presentation of myocardial infarction in young women with symptoms of ACS may be spontaneous coronary artery dissection (SCAD). SCAD has a mean age of presentation at 30-45 years with 70% of patients being women. True SCAD is defined as a non-atherosclerotic disease with risk factors such as connective tissue disease, pregnancy, and vasculitis being identified. However, many cases remain idiopathic in nature and management of the condition continues to be controversial. Description: We present a case of a 39 year old female with a history of factor V leiden, ulcerative colitis, and Budd-Chiari syndrome with cirrhosis who presented for an orthotopic liver transplant (OLT). Pre-operative workup included an echocardiogram demonstrating a LVEF of 60% with no valvular disease. Intra-operatively, the patient required significant resuscitation for an estimated blood loss of 30 liters but was transported to the ICU in stable condition postoperatively. By post-operative day (POD) one she was off all vasopressor infusions and was extubated on POD three. On POD five, the patient had symptomatic ventricular tachycardia with associated chest pain. A 12-lead ECG was obtained showing lateral ST elevations. She was taken for left heart catheterization, which showed ostial dissection of the LAD including 100% occlusion of the mid LAD. Echocardiogram demonstrated anteroseptal and apical wall hypokinesis with retained LVEF. She was emergently evaluated by cardiothoracic surgery and was deemed a poor surgical candidate. She was initiated on anticoagulation and goal directed medical therapy. She was evaluated by rheumatology for connective tissue disease but was found to be negative. She was eventually discharged with follow up. Discussion: SCAD is a rare medical condition, especially following OLT. This case highlights the clinical challenges in critical care management of SCAD with regards to anticoagulation, goal directed medical therapy, and coronary intervention. The incidence and prevalence of the disease is variable and definitive management remains largely unclear.

Resecting liver segments VII–VIII without reconstructing the right hepatic vein

Aim. To improve outcomes of treatment for neoplasms in segments VII-VIII of the liver adjacent to the main stem of the right hepatic vein and/or to its forming large branches.Materials and methods. In the period of 2016–2022, the resection of segments VII and/or VIII of the liver and the right hepatic vein, as well as its forming branches without reconstruction was performed in 24 patients. Surgical indications were liver metastases of colorectal cancer in 15 cases, hepatocellular cancer (cholangiocarcinoma) in six cases, angiomyolipoma in one case, uterine cancer metastases in one case and primary retroperitoneal tumor metastases in one case. Minor liver resections were additionally performed in 11 cases. Results. There were no intraoperative signs of impaired venous drainage. After surgery bile in the drains was detected in three patients, and a biliary fistula was formed in one case. No other complications were identified. No fatalities were registered after surgery. The late postoperative period revealed no specific complications related to a disturbance of venous drainage through the right hepatic vein.Conclusion. Existing and emerging collaterals can provide adequate venous drainage to the middle hepatic vein, short hepatic veins after resection of liver segments VII and VIII with resection of the right hepatic vein stem and its forming branches without reconstruction, even if the lower right hepatic vein is missing, and without complete obstruction of the right hepatic vein before surgery.

Budd-Chiari syndrome and its associated hepatocellular carcinoma: Clinical risk factors and potential immunotherapeutic benefit analysis.

Hepatocellular carcinoma (HCC) is a well-described complication of Budd-Chiari syndrome (BCS). However, the risk factors of BCS in developing HCC and clinical characteristics and imaging features of BCS-associated HCC is still to be determined. Data from 113 consecutive patients with primary BCS in Qilu hospital were retrospectively studied. The clinical features of 12 HCC patients associated with BCS were also analyzed. Chi-square analysis was performed to analyze the differences in clinical characteristics. The treatment regime and CT imaging features of BCS-associated HCC were also illustrated. 113 consecutive patients admitted to our hospital between January 2009 and June 2016 with a primary diagnosis of BCS were enrolled. 10.6% (12/113) was diagnosed with HCC. The BCS patients were mainly male gender with an average age of 49.2 years. Symptom duration longer than one year exhibited decreased serum ALT and AST and increased ascites ratio. BCS-associated HCC patients were presented with IVC block and stricture of the hepatic venous outflow tract. Patients with HCC were older and showed elevated serum AST and total bilirubin. Most nodules of HCC located in the right posterior lobe with heterogeneous enhancement during the arterial phase and washout during the delayed phase. The results indicate that BCS patients with IVC block and stricture of hepatic venous outflow tract seem to be associated with HCC. BCS associated HCC nodules exhibited irregular and heterogeneous enhancement in the arterial phase and washout on the delayed phase.

Ocular manifestations in Arnold Chiari syndrome

AbstractPurpose: Arnold‐Chiari disease is a rare congenital malformation of the cerebellum. Symptoms are dominated by occipital headache, torticollis, and sometimes swallowing disorders. Regarding ophthalmological manifestations, convergence abnormalities, oculomotor paralysis and diplopia are the main clinical signs. We report two cases of ocular manifestations in Arnold Chiari type 1 syndrome.Methods: Two case reports and a literature review.Results:Case 1: A 40‐year‐old patient with no medical history presented an acute loss of vision in both eyes. On examination, the patient had a visual acuity limited to 5/63. Biomicroscopic examination of the anterior segment was without abnormalities. Fundus examination revealed a bilateral papillary edema. Visual field test showed a borderline diffuse loss in both eyes.Case 2: A 17‐year‐old patient with no medical history presented intermittent headaches and a progressive loss of vision in both eyes. On examination, the patient had a visual acuity limited to 5/80. Biomicroscopic examination of the anterior segment was without abnormalities. Fundus examination revealed atrophy not excavated in both eyes. Visual field test showed nasal and temporal scotomas in both eyes. Temporal, superior and inferior RNFL defects were detected in both eyes. A brain MRI revealed a Chiari type 1 malformation without associated hydrocephalus in both patients.Conclusions: Arnold Chiari type 1 malformation is an uncommon pathology. The discovery of ophthalmologic signs requires a neurosurgical intervention as soon as possible to stop progression towards the loss of visual function by optic atrophy.

A Prospective Study on Etiology Based Prevalence, Clinical Spectrum and Outcome of Budd Chiari Syndrome in Southern India

A Prospective Study on Etiology Based Prevalence, Clinical Spectrum and Outcome of Budd Chiari Syndrome in Southern India

Long-Term Results of Proton Therapy for Hepatocellular Carcinoma Using Four-Dimensional Computed Tomography Planning without Fiducial Markers.

We report here the long-term results of marker-less respiratory-gated proton therapy (PT), without fiducial markers for hepatocellular carcinoma (HCC), which was planned using a four-dimensional computed tomography technique. Local tumor control (LTC) and overall survival (OS) were estimated using the Kaplan-Meier method. Toxicity was graded per CTCAE v5.0. Patients (n = 105; median age 73 years, range 38-90 years) with 128 lesions were treated. The median radiation dose was 66 gray relative biological effectiveness (GyRBE) (range, 52.8-82.5 GyRBE) delivered in 2.0 to 6.6 GyRBE fractions, depending on lesion volume, the involved liver, and the patient's condition. The median follow-up of surviving patients was 63 months (range, 1-126 months), and the 5-year LTC and OS rates were 93.2% and 40.4%, respectively. Univariate and multivariate analyses identified tumors near the gastrointestinal tract as an independent risk factor for local recurrence and revealed that hepatic reserve, tumor stage, performance status, operability, sex, and portal vein thrombosis were independent risk factors for OS. Acute and late treatment-related grade 3 toxicities were experienced by eight patients (7.6%). Adverse events ≥ grade 4 were not evident. Marker-less respiratory-gated PT for HCC is a safe and effective treatment without severe complications.

Bilateral Pleural Effusion: A Rare Case Report

A 24-year-old female presented with complaints of distension of abdomen, lower limb swelling and shortness of breath. On examination, she had bilateral pedal oedema, tender mild hepatomegaly, bilateral pleural effusion and ascites. She had received treatment on lines of chronic liver disease, congestive heart failure but did not manifest any improvement. Laboratory investigations including haemogram, echocardiography and liver function testing were inconclusive. Ultrasonography and computed tomography of abdomen revealed obstruction at the junction of inferior vena cava and hepatic vein with pre-stenotic dilatation confirming the diagnosis of Budd-Chiari syndrome. She was treated with balloon dilatation from right femoral vein and the patient showed marked recovery with decrease in ascites and bilateral pleural effusion and improvement in dyspnoea and leg swelling.