MPL-Positive Essential Thrombocytosis Presenting as Budd-Chiari Syndrome in a Middle-Aged Woman with an Initially Normal Platelet Count

Budd-Chiari syndrome (BCS) results from an occlusion of the hepatic venous flow which in turn leads to portal hypertension causing ascites and other signs of liver dysfunction. Here, we present the case of a 43-year-old woman with recurrent ascites who was found to have BCS secondary to an inferior vena cava thrombosis extending into the hepatic veins. Although she had a normal platelet count on admission, additional laboratory investigations revealed an MPL mutation. She was discharged on anticoagulation with apixaban and later found to have thrombocytosis on repeat blood work, confirming the diagnosis of essential thrombocytosis, following which she was started on myelosuppressive therapy with hydroxyurea.

Massive Calcified Epithelioid Hemangioendothelioma With Multifocal Involvement: An Imaging Diagnosis Dilemma and a Rare Case Report

Epithelioid hemangioendothelioma (EHE) is a rare malignant vascular tumor that develops from vascular endothelial or pre-endothelial cells. More than 60% patients have single-organ involvement, and involvement of multiple organs including the liver, lungs, and bones is extremely rare. The typical radiographic features of EHE include multiple small nodules in both lungs, which are usually located near small- and medium-sized blood vessels and the bronchi, and solitary, multiple, or diffuse lesions located at the hepatic periphery, spreading within the branches of the portal and hepatic veins. Radiologic calcification has been rarely reported in the literature. Here, we firstly described a case of a 53-year-old woman with EHE who presented with lungs, liver, bone, and right hilar lymph node involvement, manifesting as massive calcification on computed tomography. This case reminds physicians that EHE may present with unusual imaging manifestations, like massive calcification, and should be considered during the diagnostic process.

A Case of Budd-Chiari Syndrome Associated with Erythrocytosis and Homozygous MTHFR C677T Mutation

An erythrocytosis describes an increased erythrocyte, subclassified into relative due to hemoconcentration or absolute by an increase in erythrocyte mass, defined as an increase in hemoglobin concentration and/or hematocrit in the peripheral blood above the sex-specific normal range. Budd-Chiari Syndrome (BCS) is related to an obstruction of the hepatic venous flow leading to occlusion of hepatic veins and their tributaries. Genetic and environmental factors can interact for risk determination of venous thromboembolism. The risk associated with SNP 677C>T and 1298A>C of the methylenetetrahydrofolate reductase (MTHFR), 1691G>A of the Factor V Leiden (FVL) and 20210G>A of the prothrombin (FII) genes were investigated in many studies involving thrombosis. This case report describes the clinical, hematological and biochemistry data about a 48-year-old woman diagnosed with PV and a BCS associated, also carrying 677C>T SNP in homozygosity. The patient started therapy with phlebotomy, hydroxyurea and oral anticoagulant. Currently, she presents a better clinical and laboratory condition with normalized values of hematological and platelet indices. This case report aims to contribute with evidence of related comorbidities and makes it possible to report that genetic factors are involved since the patient's mother had already been diagnosed with absolute erythrocytosis in 2016 at 78 years old. For this main result, we understand that it is clear that a family genetic study can reveal clinical modifying factors in these patients, as there are different clinical severities in the family. Furthermore, we believe in the need for a greater number of randomized clinical trials to add better evidence to complement an ideal therapeutic approach in these patients.

A New Glutamine Synthetase Index to Evaluate Hepatic Lobular Restoration in Advanced Fibrosis During Anti-HBV Therapy

Background Hepatic lobular architecture distortion is a deleterious turning point and crucial histological feature of advanced liver fibrosis in chronic liver diseases. Regression of fibrosis has been documented in chronic hepatitis B (CHB) patients. However, the restoration of lobular architecture after antiviral therapy is still unclear. Here, we propose a new glutamine synthetase (GS) index (GS-index) to evaluate the extent of architectural disruption and restoration. Methods We evaluated 43 pre-and post-treatment liver biopsies of CHB patients with advanced fibrosis (Ishak stage≥4). Glutamine synthetase (GS) is normally expressed by perivenular hepatocytes around hepatic veins (HV). When GS expression is observed in the vicinity of portal tracts (PT), it denotes parenchymal extinction and lobular collapse. We propose the new glutamine synthetase index (GS-index), defined as the percentage of GSHV/(GSHV+ GSPT), to evaluate the extent of architectural disruption and restoration. Results The median GS-index improved from 7% at baseline to 36% at week 78 (P<0.001). When GS-index78w≥50% used to define hepatic lobular restoration, 37% patients (16/43) achieved lobular restoration, with improvement in ALT and AST levels. More importantly, GS-index correlated with fibrosis regression, one stage fibrosis improvement in restored group and no change in non-restored patients (P=0.030). Conclusion In the era of antiviral therapy for CHB, restoration of hepatic lobular architecture is achievable. GS-index gives a new evaluation tool to quantitively assess hepatic lobular status and therapeutic benefits in CHB patients.

Case Report: Robotically Assisted Excision of Cystic Tumor Located in a Difficult to Access Area in the Liver

Introduction: Cystic liver lesions may be benign cysts, parasitic infestations, or malignant tumors requiring surgical resection. Hilar location and relation to major vasculature present challenges in conventional surgical access and resection.Materials and Methods: We describe totally robotic excision of a cystadenoma in a 55-year-old woman without complication. Time points in the accompanying video (https://youtu.be/Tn_QPgpSHA4) are embedded within the text.Results: Advantages of the robotic technique lie in overcoming the natural restriction of conventional laparoscopic instruments, easier repair, and control of intraoperative vascular injuries using EndoWrist® instruments, ergonomic dissection close to major vasculature and reduced intraoperative blood loss as dissection is easier.Discussion: Indications for robotic surgery included the large size of the cystic lesion, its intrahepatic location, and compression of the inferior vena cava (IVC) and right and middle hepatic veins. Had robotic removal of the lesion not been feasible, the entire lobe of the liver would have required resection.

Splanchnic venous thrombosis in a nephrotic patient following COVID-19 infection: a case report

Background As the COVID-19 pandemic spread worldwide, case reports and small series identified its association with an increasing number of medical conditions including a propensity for thrombotic complications. And since the nephrotic syndrome is also a thrombophilic state, its co-occurrence with the SARS-CoV-2 infection is likely to be associated with an even higher risk of thrombosis, particularly in the presence of known or unknown additional risk factors. Lower extremity deep vein thrombosis (DVT) and pulmonary embolism (PE) are the most common manifestations of COVID-19-associated hypercoagulable state with other venous or arterial sites being much less frequently involved. Although splanchnic vein thrombosis (SVT) has been reported to be 25 times less common than usual site venous thromboembolism (VTE) and rarely occurs in nephrotic patients, it can have catastrophic consequences. A small number of SVT cases have been reported in COVID-19 infected patients in spite of their number exceeding 180 million worldwide. Case presentation An unvaccinated young adult male with steroid-dependent nephrotic syndrome (SDNS) who was in a complete nephrotic remission relapsed following contracting SARS-CoV-2 infection and developed abdominal pain and diarrhea. Abdominal US revealed portal vein thrombosis. The patient was anticoagulated, yet the SVT rapidly propagated to involve the spleno-mesenteric, intrahepatic and the right hepatic veins. In spite of mechanical thrombectomy, thrombolytics and anticoagulation, he developed mesenteric ischemia which progressed to gangrene leading to bowel resection and a complicated hospital course. Conclusion Our case highlights the potential for a catastrophic outcome when COVID-19 infection occurs in those with a concomitant hypercoagulable state and reminds us of the need for a careful assessment of abdominal symptoms in SARS-CoV-2 infected patients.

Utility of transient elastography in evaluation and follow-up of Budd-Chiari syndrome patients after endovascular intervention

Background Liver stiffness measurement (LSM) using transient elastography (TE) is a common noninvasive method for assessing hepatic fibrosis. The purpose of this study was to show the utility of LSM in the evaluation and short-term follow-up of Budd-Chiarri syndrome (BCS) patients as well as to investigate the relationships between LSM, hepatic venous pressure, and liver fibrosis. We conducted a prospective cohort study in which 25 patients with a confirmed diagnosis of primary BCS underwent endovascular intervention for BCS treatment. All patients had pressure gradient changes across the stenosed hepatic veins/inferior vena cava (HV/IVC) measured before and after the procedure, a transvenous liver biopsy during the procedure, and LSM (using Transient Elastography 3 days before and 3 months after the intervention as a short-term follow-up). Comparisons and correlations were made between liver stiffness, hepatic venous pressure, and fibrosis. Results The HV/IVC pressure gradient measured immediately before and after the intervention had a direct proportionate correlation with the LS measured 3 days before and 3 months after the intervention (r = 0.41 & 0.44, p: 0.04 & 0.03, respectively). LSM drops significantly 3 months after intervention (from 51.62 ± 22 kPa to 28.80 ± 19.25 kPa (p: 0.001)). There is a significant improvement in LSM post-intervention among patients with moderate to severe fibrosis (METAVIR scores of ≥ F2 before intervention (p: 0.001). Conclusions LSM in BCS patients reflects congestion rather than fibrosis stage. TE can be used for the short-term monitoring of patients with BCS following the endovascular intervention as a noninvasive tool.

Modified median hepatic fissure approach for resection of liver tumours located in the angle between the root of the middle and right hepatic veins

Background Liver tumours between the root angle of the middle and right hepatic veins are a special type of liver segment VIII tumour. In this study, we designed a modified median hepatic fissure approach to remove these tumours. The safety and effectiveness of the approach were evaluated. Materials and methods From April 2015 to November 2019, 11 patients with liver tumours between the angle of the middle and right hepatic veins underwent this modified median hepatic fissure approach. We retrospectively analysed data from the perioperative periods of these 11 patients, including general condition, operation time, intraoperative bleeding, and postoperative complications. Disease-free survival and overall survival were assessed. Results Of the 11 patients, 9 patients had primary hepatocellular carcinoma and 2 had colorectal liver metastases. The average intraoperative blood loss was 285 mL (150–450 mL). Two patients developed postoperative bile leakage, but there were no significant serious complications, such as intraabdominal bleeding and liver failure, in any of the patients. The liver function returned to the normal range on the 5th day after surgery. Of the 11 patients, 5 have survived for more than 3 years (45.5%), and 4 have been disease-free for more than 3 years (36.3%). Conclusions For liver tumours between the root angle of the middle and right hepatic veins, the modified median hepatic fissure approach is a safe and feasible method.

Single-center study: evaluation of sonography in Budd-Chiari syndrome

Purpose Budd-Chiari syndrome (BCS) is a rare disease characterized by hepatic venous outflow tract obstruction. The study aimed to evaluate the diagnostic utility of ultrasound in confirming the diagnosis of BCS and to provide an overview of the clinical picture. Materials and method In this retrospective single-center study, patients with an initial diagnosis of BCS were included. The files were analyzed concerning the ultrasound images and compared to computed tomography (CT) and magnetic resonance imaging (MRI). Main clinical signs of BCS were collected. Results Data of 25 patients were analyzed. Doppler sonography showed the highest sensitivity (78.9%) with the highest specificity 97.4 (%) in confirming the correct diagnosis of BCS. Main imaging signs were obstruction in the hepatic veins (68.0%, 17/25 thrombotic), collaterals (91.7%, 11/12 intrahepatic), inhomogeneous liver parenchyma (7/21), and a hypertrophied lobus caudatus (18/21) (p < 0.01). All imaging signs could be detected with sonography. Hypertrophied lobus caudatus was seen exclusively in BCS. Furthermore, portal hypertension (9/25), liver cirrhosis (9/25), and ascites (19/25) can be diagnosed as non-specific signs of BCS (p < 0.01).The main clinical findings were elevated γ-GT levels in the laboratory (92.0%, 23/25, p < 0.01) and esophageal varices in endoscopy (12/25 p < 0.01). An association with myeloproliferative neoplasia (MPN) was frequently seen (10/25) (p < 0.01). Conclusion The present study demonstrates that sonography is an appropriate tool for the diagnosis of BCS and should be used as the first imaging procedure.