Congenital antithrombin deficiency in patients with splanchnic vein thrombosis.

BACKGROUND AND AIMS: Splanchnic vein thromboses (SVT) are a rare condition that can be life-threatening. The most severe thrombophilia associated to SVT is antithrombin (AT) deficiency, usually caused by SERPINC1 mutations. Although transitory AT deficiencies and congenital disorders of the N-glycosylation pathways (CDG) have been recently reported as causes of AT deficiency, the current AT clinical screening still only includes anti-FXa activity. This study aims to (a) improve the detection of AT deficiency in SVT and (b) characterize the features of AT deficiency associated with SVT. METHODS: The study was performed in 2 cohorts: (a) 89 SVT patients with different underlying etiologies but in whom AT deficiency had been ruled out by classical diagnostic methods; and (b) 271 unrelated patients with confirmed AT deficiency and venous thrombosis. AT was evaluated by functional (anti-FXa and anti-FIIa) and immunological methods (ELISA, crossed immunoelectrophoresis, western blot), and SERPINC1 sequencing was performed. RESULTS: In 4/89 patients (4.5%) additional alterations in AT were found (two had SERPINC1 mutations, one had a specific variant causing transient AT deficiency and one patient had CDG). In 11 of the 271 patients (4.1%) with AT deficiency and thrombosis, thrombosis was located at the splanchnic venous territory. CONCLUSIONS: Antithrombin deficiency may be underdiagnosed by current clinical screening techniques. Therefore, a comprehensive AT evaluation should be considered in cases of rethrombosis or doubtful interpretation of anti-FXa activity levels. SVT is a relatively common localization of the thrombotic event in patients with congenital AT deficiency.

Milestones in the discovery of Budd-Chiari syndrome.

In 1845, George Budd published a brief report regarding three patients who developed an obstruction of the hepatic veins. The condition has never been reported before, and was related to sepsis and alcoholism. Fifty-three years later, Hans Chiari postulated that syphilis was causing the obstruction of the hepatic veins, and enriched the debate with clinical and pathological correlations. Following the hypothesis on the 'phlebitis obliterans', several authors proposed other pathophysiological explanations including congenital causes, chronic trauma and exogenous toxins. RG Parker, in 1959, first recognized the relationship between obstruction of hepatic veins and thrombophilic conditions such as polycythaemia vera, pregnancy and hormonal therapy. Based on that, anticoagulant treatment was attempted, but with unsatisfactory outcome. We need to wait until the mid 1980s to see a widespread adoption of anticoagulants, with a consequent improvement of patients' survival. The fear of haemorrhagic events in patients with liver disease discouraged this therapeutic approach, and other surgical interventions (mainly port-systemic shunts) were conceived, but with high morbidity and mortality. The first liver transplantation in 1976 and the first trans-jugular intra-hepatic porto-systemic shunt in 1993 represented two major cornerstones in the management of Budd-Chiari syndrome (BCS). Such progresses allowed modifying the treatment of BCS until the modern concept of stepwise therapy. The present review thoroughly reviews the major landmarks in the discovery, treatment and clinical management of patients with BCS.

Isolated Right Internal Jugular Vein Thrombosis: a Rare Complication of Acute Pancreatitis - a Case Report.

Vascular complications particularly splanchnic vein thrombosis can occur in acute as well as chronic pancreatitis, but extra-splanchnic thrombosis occurs rarely. We report a rare case of acute pancreatitis complicated by isolated internal jugular vein thrombosis. A 26-year-old Indian woman presented with complaints of severe epigastric pain radiating to the back, vomiting, and abdominal distension. Investigations showed low hemoglobin and serum calcium, and a raised serum amylase and lipase. Contrast-enhanced computerized tomography (CECT) of the abdomen suggested acute pancreatitis with bilateral pleural effusion and mild ascites. The patient was managed for acute pancreatitis with antibiotics, analgesics, pantoprazole, and other supportive treatment. She subsequently developed pain and swelling on the right side of the neck. Ultrasound Doppler examination of the neck revealed an isolated thrombus in the right internal jugular vein (IJV). The patient was started on enoxaparin and transitioned to warfarin. The patient improved symptomatically and was discharged on warfarin. A follow-up ultrasound Doppler examination showed a partial resolution of the clot. The patient was maintained on oral anticoagulants for 6 months. Isolated IJV thrombosis may complicate acute pancreatitis. A timely diagnosis and prompt treatment are critical for a positive outcome.

A Journey From Appendicitis to a Rare Appendiceal Mucinous Neoplasm.

We present here a 66-year-old Caucasian male whose persistent abdominal pain thought to be due to appendicitis and associated acute splanchnic thrombosis. He was initially managed with antibiotics and anticoagulation. But further work up revealed a low-grade appendiceal mucinous neoplasm causing the splanchnic vein thrombosis. Additionally, diagnosis and management of this rare tumor and appropriate work up for splanchnic thrombosis will be briefly reviewed here.

The venous thrombosis registry in Østfold Hospital (TROLL registry) - design and cohort description.

Purpose: The incidence of venous thromboembolism (VTE) is expected to increase over the next decades, further increasing its substantial impact on patients and health care resources. Registries have the benefit of reporting real-world data without excluding clinically important subgroups. Our aim was to describe a Norwegian VTE registry and to provide descriptive data on the population and management. Registry Population: The Venous Thrombosis Registry in Østfold Hospital (TROLL) is an ongoing registry of consecutive patients diagnosed with, treated, and/or followed up for VTE at Østfold Hospital, Norway, since 2005. Baseline and follow-up data, including demographics, clinical features, risk factors, diagnostic procedures, classification of VTE, and treatment were collected during hospitalization, and at scheduled outpatient visits. Findings to Date: From January 2005 to June 2021, 5037 patients were eligible for research in TROLL. Median age was 67 years (interquartile range, 55-77), and 2622 (52.1%) were male. Of these, 2736 (54.3%) had pulmonary embolism (PE), 2034 (40.4%) had deep vein thrombosis (DVT), and 265 (5.3%) had upper-extremity DVT or splanchnic or cerebral sinus vein thrombosis. In total, 2330 (46.3%) were classified as unprovoked VTE, and 1131 (22.5%) had cancer. Direct oral anticoagulants were the most frequent therapeutic agents (39.3%) followed by low-molecular-weight heparins (30.4%) and vitamin K antagonists (30.3%). Outpatient treatment for PE increased from 4% in 2005 to 23% in 2019. Future Plans: TROLL is a population-based ongoing registry that represents a valuable source of real-world data that will be used for future research on the management and outcomes of VTE.

Successful treatment of acute spleno-porto-mesenteric vein thrombosis after ChAdOx1 nCoV-19 vaccine. A case report.

Several cases of deep venous thrombosis in people who had recently received Vaxzevria (previously known as COVID-19 Vaccine AstraZeneca) have recently been reported, mainly presenting as cerebral vein/cerebral venous sinus thrombosis. This syndrome has been termed "vaccine-induced immune thrombotic thrombocytopenia (VITT)". Acute spleno-porto-mesenteric vein thrombosis is an uncommon but serious condition with potential sequelae, such as small-bowel gangrene and end-stage liver failure. We describe a case of concomitant thrombosis of portal, superior mesenteric and splenic veins in a young female patient with no other risk factors who received Vaxzevria (previously ChAdOx1 nCoV-19 vaccine, AstraZeneca) 17 days before. The diagnostic workup and the successful endovascular treatment and systemic anticoagulation management is reported.

Open abdomen management for massive intestinal infarction due to acute splanchnic venous thrombosis in a patient with protein S deficiency. A case report.

INTRODUCTION: Acute mesenteric ischemia (AMI) refers to the sudden onset of intestinal hypoperfusion that can also result from splanchnic venous occlusion. The portomesenteric venous system (PMVS) is an unusual site of thrombosis in patients with protein S deficiency and its obstruction is a rare cause of AMI. Aim of this report is to illustrate a successful strategy in a case of massive small bowel infarction managed with an open abdomen (OA) approach. CASE PRESENTATION: A 64 year-old woman presented to the emergency department with acute abdominal pain, rectal bleeding, diarrhea and vomiting. Contrast-enhanced computed tomography (CECT) showed small bowel ischemia and the complete occlusion of all the PMVS branches. Surgery was performed with an OA approach and anticoagulation was immediately begun. Further workup revealed isolated protein S deficiency and history of atrophic gastritis. Thromboprophylaxis with warfarin was started on discharge and no recurrence of thrombotic events was recorded during the one-year follow-up. DISCUSSION: PMVS thrombosis related to protein S deficiency is a rare condition that can rapidly lead to an acute abdomen. CECT is the gold standard, because it detects splanchnic thrombosis and its possible complications, like bowel ischemia. In case of surgery, a planned second-look operation is the best strategy to assess bowel viability and possible ischemic progression. CONCLUSIONS: OA management plays a fundamental role in case of resection for bowel ischemia. Patients with thrombosis at an uncommon site should be further investigated for prothrombotic states.

Budd-Chiari Syndrome: An Uncommon Cause of Chronic Liver Disease that Cannot Be Missed.

Budd-Chiari syndrome (BCS), or hepatic venous outflow obstruction, is a rare cause of liver disease that should not be missed. Variable clinical presentation among patients with BCS necessitates a high index of suspicion to avoid missing this life-threatening diagnosis. BCS is characterized as primary or secondary, depending on etiology of venous obstruction. Most patients with primary BCS have several contributing risk factors leading to a prothrombotic state. A multidisciplinary stepwise approach is integral in treating BCS. Lifelong anticoagulation is recommended. Long-term monitoring of patients for development of cirrhosis, complications of portal hypertension, hepatocellular carcinoma, and progression of underlying diseases is important.

Natural history and clinical outcomes in patients with portal vein thrombosis by etiology: A retrospective cohort study.

BACKGROUND: Portal vein thrombosis (PVT) is an unusual-site thrombosis commonly encountered in patients with malignancies, cirrhosis, and acute abdominal inflammatory conditions (AIC). Current recommendations suggest that anticoagulation may improve recanalization rates but there is limited information on venous thromboembolism (VTE) recurrence rates and whether the etiologies of PVT respond similarly with anticoagulation. OBJECTIVE: To characterize the natural clinical course and outcomes of patients diagnosed with PVT based on etiology. PATIENTS/METHODS: Patients with a diagnosis of PVT between 2005 and 2015 who were followed for at least one year and had revised imaging at 12 months ±â€¯3 months were identified. Comorbidities, demographics, anticoagulation choice and clinical outcomes including VTE recurrence, cavernous transformation, PVT recanalization, progression and mortality were obtained. RESULTS: Of 698 patients diagnosed with PVT, 85 patients were evaluable according to criteria: 54 had cirrhosis (63.5%), 15 malignancy (17.6%) and 16 AIC (18.8%). Mean age was 55.6 ±â€¯13.1 years. At presentation, 40% patients were symptomatic and 29.4% received anticoagulation. Patients with AIC were anticoagulated more frequently compared to those with malignancy or cirrhosis (87.5% vs. 33.3% vs. 11.1%). Overall, patients with cirrhosis had lower rates of PVT progression (0% vs. 13.3%, p = 0.02) and patients with AIC had higher rates of cavernous transformation compared to cirrhosis or malignancy-associated PVT (31.3% vs. 7.4% vs. 0%, p = 002). Among untreated patients, those with malignancy had significantly higher rates of VTE recurrence and PVT progression than patients with cirrhosis (20% vs. 4.2% and 20% vs. 0%). CONCLUSIONS: The natural course of PVT differs among etiologies. In the absence of anticoagulation, patients with malignancy are more prone to VTE recurrence and PVT progression compared to patients with cirrhosis. Given the high rate of VTE recurrence at 12 months in patients with malignancy-associated PVT, anticoagulation should be considered for this group.

Systematic review with meta-analysis: portal vein recanalisation and transjugular intrahepatic portosystemic shunt for portal vein thrombosis.

BACKGROUND: Transjugular intrahepatic portosystemic shunt has been increasingly used in patients with portal vein thrombosis to obtain patency, but evidenced-based decisions are challenging. AIM: To evaluate published data on efficacy and safety of endovascular therapy in portal vein thrombosis. METHODS: Systematic search of PubMed, ISI, Scopus, and Embase for studies (in English, until October 2017) reporting feasibility, safety, 12-month portal vein recanalisation, transjugular intrahepatic portosystemic shunt patency, and survival in patients with benign portal vein thrombosis undergoing endovascular treatment. An independent extraction of articles using predefined data fields and quality indicators was used; pooled analyses based on random-effects models; heterogeneity assessment by Cochran's Q, I2 statistic, subgroup analyses, and meta-regression. RESULTS: Thirteen studies including 399 patients (92% cirrhosis; portal vein thrombosis: complete 46%, chronic 87%, cavernous transformation 17%, superior mesenteric vein involvement 55%) were included. Transjugular intrahepatic portosystemic shunt was technically feasible in 95% (95% CI: 89%-98%) with heterogeneity (I2  = 57%, P < 0.001) explained by cavernous transformation. Major complications occurred in 10% (95% CI: 6.0%-18.0%; I2  = 52%, P = 0.55). Additional catheter-directed thrombolysis was associated with more complications compared to transjugular intrahepatic portosystemic shunt alone or plus thrombectomy (17.6% vs 3.3%). Twelve-month portal vein recanalisation was 79% (95% CI: 67%-88%; I2  = 78%, P < 0.01). Shunt patency at 12 months was 84% (95% CI: 76%-90%; I2  = 62%, P < 0.01). Overall 12-month survival rate was 89%, with no heterogeneity. CONCLUSIONS: Transjugular intrahepatic portosystemic shunt for portal vein thrombosis recanalisation was highly feasible, effective, and safe. Cavernous transformation was the main determinant of technical failure. Additional catheter-directed thrombolysis was associated with higher risk of severe complications.