Somatic calreticulin mutations in patients with Budd-Chiari syndrome and portal vein thrombosis

Carta a l'editorWe studied the role of the recently identified CALR mutations in 141 patients with Budd-Chiari Syndrome (BCS) or portal vein thrombosis (PVT) in a large multinational cohort. A CALR mutation was present in one of the 141 patients (0.7%). This patient was previously diagnosed with primary myelofibrosis. This results in CALR positivity in one out of 44 (2.3%) patients with myeloproliferative neoplasm (MPN), and in one of 11 (9.1%) JAK2V617F negative patients diagnosed with MPN. We suggest that analysis of CALR mutations should be performed in JAK2V617F negative BCS and PVT patients..

Abdominal Surgery in Patients With Idiopathic Noncirrhotic Portal Hypertension: A Multicenter Retrospective Study

In patients with idiopathic noncirrhotic portal hypertension (INCPH), data on morbidity and mortality of abdominal surgery are scarce. We retrospectively analyzed the charts of patients with INCPH undergoing abdominal surgery within the Vascular Liver Disease Interest Group network. Forty‐four patients with biopsy‐proven INCPH were included. Twenty‐five (57%) patients had one or more extrahepatic conditions related to INCPH, and 16 (36%) had a history of ascites. Forty‐five procedures were performed, including 30 that were minor and 15 major. Nine (20%) patients had one or more Dindo‐Clavien grade ≥ 3 complication within 1 month after surgery. Sixteen (33%) patients had one or more portal hypertension–related complication within 3 months after surgery. Extrahepatic conditions related to INCPH (P = 0.03) and history of ascites (P = 0.02) were associated with portal hypertension–related complications within 3 months after surgery. Splenectomy was associated with development of portal vein thrombosis after surgery (P = 0.01). Four (9%) patients died within 6 months after surgery. Six‐month cumulative risk of death was higher in patients with serum creatinine ≥ 100 μmol/L at surgery (33% versus 0%, P < 0.001). An unfavorable outcome (i.e., either liver or surgical complication or death) occurred in 22 (50%) patients and was associated with the presence of extrahepatic conditions related to INCPH, history of ascites, and serum creatinine ≥ 100 μmol/L: 5% of the patients with none of these features had an unfavorable outcome versus 32% and 64% when one or two or more features were present, respectively. Portal decompression procedures prior to surgery (n = 10) were not associated with postoperative outcome. Conclusion: Patients with INCPH are at high risk of major surgical and portal hypertension–related complications when they harbor extrahepatic conditions related to INCPH, history of ascites, or increased serum creatinine

Elastography improves accuracy of early hepato-biliary complications diagnosis after allogeneic stem cell transplantation

Significant morbidity and mortality have been associated with liver complications after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Causes and consequences of these hepato-biliary complications are various and might be life-threatening. A high misdiagnosis rate has been reported because of a weak correlation between clinical, laboratory and imaging data. Liver elastography, a liver stiffness measure, is able to assess liver fibrosis and portal hypertension in most liver diseases, but data after allo-HSCT are scarce. Our aim was to determine the interest of sequential liver stiffness measurements for the diagnosis of early hepatic complications after allo-HSCT. Over a two years period of time, 161 consecutive adult patients were included and 146 were analyzed. Ultrasonography and elastography measurements were performed before transplantation, at day+7 and day+14 by three different experienced radiologists unaware of patients'clinical status. Eighty-one (55%) patients had liver involvements within the first 100 days after allo-HSCT. Baseline elastography was not predictive for the occurrence of overall liver abnormalities. A significant increase in 2D real-time shearwave elastography (2D-SWE) was found in patients with sinusoidal obstruction syndrome (SOS). Fifteen patients (10%) fulfilled EBMT score criteria and twelve (8%) reached Baltimore criteria for SOS diagnosis, but only six (4%) had a confirmed SOS. 2D-SWE at day+14 allowed early detection of SOS (AUROC=0.84, p=0.004) and improved sensibility (75%), specificity (99%) and positive predictive value (60%) over the Seattle, Baltimore or EBMT scores. A 2D-SWE measurement above 8.1kPa at day+14 after allo-HSCT seems a promising, non-invasive, and reproducible tool for early and accurate diagnosis of SOS

Congenital extrahepatic portosystemic shunts (Abernethy malformation): An international observational study

Congenital extrahepatic portosystemic shunt (CEPS) or Abernethy malformation is a rare condition in which splanchnic venous blood bypasses the liver draining directly into systemic circulation through a congenital shunt. Patients may develop hepatic encephalopathy (HE), pulmonary hypertension (PaHT), or liver tumors, among other complications. However, the actual incidence of such complications is unknown, mainly because of the lack of a protocolized approach to these patients. This study characterizes the clinical manifestations and outcome of a large cohort of CEPS patients with the aim of proposing a guide for their management. This is an observational, multicenter, international study. Sixty-six patients were included; median age at the end of follow-up was 30 years. Nineteen patients (28%) presented HE. Ten-, 20-, and 30-year HE incidence rates were 13%, 24%, and 28%, respectively. No clinical factors predicted HE. Twenty-five patients had benign nodular lesions. Ten patients developed adenomas (median age, 18 years), and another 8 developed HCC (median age, 39 years). Of 10 patients with dyspnea, PaHT was diagnosed in 8 and hepatopulmonary syndrome in 2. Pulmonary complications were only screened for in 19 asymptomatic patients, and PaHT was identified in 2. Six patients underwent liver transplantation for hepatocellular carcinoma or adenoma. Shunt closure was performed in 15 patients with improvement/stability/cure of CEPS manifestations. Conclusion: CEPS patients may develop severe complications. Screening for asymptomatic complications and close surveillance is needed. Shunt closure should be considered both as a therapeutic and prophylactic approach

Etudes des facteurs prédictifs de thrombose et de reperméabilisation vasculaire au cours des maladies vasculaires du foie en dehors de la cirrhose

Au cours des maladies vasculaires du foie, un facteur systémique est retrouvé dans plus de 50% des cas et plusieurs facteurs systémiques dans plus d'un tiers des cas. Cependant, certaines causes génétiques et familiales restent mal ou non caractérisées. Enfin, en l'absence de cause, l'impact de la poursuite du traitement anticoagulant au long cours sur la perméabilité n'est pas démontré. 1. Première partie : préciser les facteurs héréditaires pouvant favoriser le développement des maladies vasculaires du foie - Etude 1. Nous avons comparé une cohorte de patients mutés sur les gènes de la maintenance des télomères (TRG) à 396 patients contrôles d'une population d'un centre de soin primaire. Les patients TRG ont été divisés en 2 groupes : i) « avec anomalie hépatique (AH) » (transaminases > à 30 UI/L et/ou anomalie à l'imagerie) ; et ii) « sans AH ». Parmi 132 patients porteurs de mutations TRG, 95 avaient une maladie hépatique (19 transaminases > 30 UI/L, 12 un foie dysmorphique et 64 les deux). La présence d'une mutation TRG était associée à un risque accru de maladie du foie : Hazard Ratio 12,9 IC95 % 7,8-21,3. (p 500 ng/mL à 1 mois étaient associés à une récidive de thrombose (HR 7,78 [1,49-40,67]), avec une valeur prédictive négative de 93,5 %.In vascular liver diseases, a risk factor is found in more than 50% of cases, associated in more than 30% of cases. However, genetic and familial causes remain poorly characterized. Curently, in the absence of risk factors, the impact of long-term anticoagulant therapy on patency and thrombotic risk has not been demonstrated. 1. Specify hereditary factors that can promote the development of vascular liver diseases - Study 1. We compared a cohort of telomere maintenance genes (TRG) mutated patients with 396 control patients from a population of a primary care center. TRG patients were divided into 2 groups: i) "with hepatic abnormality (HA)" (transaminases> 30 IU / L and / or imaging abnormality); and ii) "without HA". Of 132 patients with TRG mutations, 95 had liver disease (19 transaminases> 30 IU / L, 12 with dysmorphic liver and 64 both). The presence of a TRG mutation was associated with an increased risk of liver disease: Hazard Ratio 12.9 95% CI 7.8-21.3. (p 500 ng / mL at 1 month were associated with recurrent thrombosis (HR 7.78 [1.49-40.67]), with a negative predictive value of 93.5 %

Etudes des facteurs prédictifs de thrombose et de reperméabilisation vasculaire au cours des maladies vasculaires du foie en dehors de la cirrhose

In vascular liver diseases, a risk factor is found in more than 50% of cases, associated in more than 30% of cases. However, genetic and familial causes remain poorly characterized. Curently, in the absence of risk factors, the impact of long-term anticoagulant therapy on patency and thrombotic risk has not been demonstrated. 1. Specify hereditary factors that can promote the development of vascular liver diseases - Study 1. We compared a cohort of telomere maintenance genes (TRG) mutated patients with 396 control patients from a population of a primary care center. TRG patients were divided into 2 groups: i) "with hepatic abnormality (HA)" (transaminases> 30 IU / L and / or imaging abnormality); and ii) "without HA". Of 132 patients with TRG mutations, 95 had liver disease (19 transaminases> 30 IU / L, 12 with dysmorphic liver and 64 both). The presence of a TRG mutation was associated with an increased risk of liver disease: Hazard Ratio 12.9 95% CI 7.8-21.3. (p 500 ng / mL at 1 month were associated with recurrent thrombosis (HR 7.78 [1.49-40.67]), with a negative predictive value of 93.5 %.Au cours des maladies vasculaires du foie, un facteur systémique est retrouvé dans plus de 50% des cas et plusieurs facteurs systémiques dans plus d'un tiers des cas. Cependant, certaines causes génétiques et familiales restent mal ou non caractérisées. Enfin, en l'absence de cause, l'impact de la poursuite du traitement anticoagulant au long cours sur la perméabilité n'est pas démontré. 1.Première partie : préciser les facteurs héréditaires pouvant favoriser le développement des maladies vasculaires du foie -Etude 1. Nous avons comparé une cohorte de patients mutés sur les gènes de la maintenance des télomères (TRG) à 396 patients contrôles d'une population d'un centre de soin primaire. Les patients TRG ont été divisés en 2 groupes : i) « avec anomalie hépatique (AH) » (transaminases > à 30 UI/L et/ou anomalie à l'imagerie) ; et ii) « sans AH ». Parmi 132 patients porteurs de mutations TRG, 95 avaient une maladie hépatique (19 transaminases > 30 UI/L, 12 un foie dysmorphique et 64 les deux). La présence d'une mutation TRG était associée à un risque accru de maladie du foie : Hazard Ratio 12,9 IC95 % 7,8-21,3. (p 500 ng/mL à 1 mois étaient associés à une récidive de thrombose (HR 7,78 [1,49-40,67]), avec une valeur prédictive négative de 93,5 %

Evaluation de la progression du carcinome hépatocellulaire et de l'influence des traitements adjuvants pendant la période d'attente d'une transplantation hépatique

PARIS7-Villemin (751102101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Evaluation d'une stratégie thérapeutique au cours du syndrome de Budd Chiari

Le syndrome de Budd Chiari (SBC) est une maladie rare, qui atteint le plus souvent des femmes jeunes, et dont l'évolution peut être rapidement défavorable en l'absence de traitement. Le but de notre étude est dévaluer une stratégie thérapeutique par étapes utilisée à l'hôpital Beaujon. Madades et méthodes : 27 malades adressés pour SBC depuis octobre 1997 étaient inclus dans l'étude. La stratégie thérapeutique était la suivante : tous les malades recevaient un traitement anticoagulant, étaient adressés à un hématologue pour le traitement d'une éventuelle thrombophilie et lorsqu'ils étaient symptomatiques, étaient évalués pour une reperméabilisation veineuse hépatique. En cas d'échec de ces différents traitements, un TIPS (Transjugular Intrahepatic Portosystemic Shunting) et/ou une transplantation hépatique (TH) étaient proposés. Résultats : Après traitement anticoagulant (médiane de suivi : 469 jours), un traitement complémentaire était indiqué dans 78 % des cas. Le taux de succès immédiat d'une angioplastie et/ou de la pose d'un stent (veineux hépatique ou cave) était de 80 %. Conclusion : Le traitement anticoagulant et la reperméabilisation sont le plus souvent insuffisants pour traiter les patients ayant un SBC symptomatique. Chez ces patients un traitement complémentaire est le plus souvent indiqué. Lorsqu'un TIPS est effectué, il permet de surseoir à la TH dans 82 % des cas, mais sa morbidité reste élevée. Enfin, la TH permet de traiter les patients qui ne peuvent avoir un TIPS, ou pour qui le TIPS a été un échec, avec un taux de survie équivalent aux autres indications de TH.PARIS7-Xavier Bichat (751182101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

N-butyl-2-cyanoacrylate in gastric varices: A cause for recurrent repsis

SCOPUS: le.jinfo:eu-repo/semantics/publishe

Management of splanchnic vein thrombosisKey points

Summary: The expression splanchnic vein thrombosis encompasses Budd-Chiari syndrome and portal vein thrombosis. These disorders have common characteristics: they are both rare diseases which can cause portal hypertension and its complications. Budd-Chiari syndrome and portal vein thrombosis in the absence of underlying liver disease share many risk factors, among which myeloproliferative neoplasms represent the most common; a rapid comprehensive work-up for risk factors of thrombosis is needed in these patients. Long-term anticoagulation is indicated in most patients. Portal vein thrombosis can also develop in patients with cirrhosis and in those with porto-sinusoidal vascular liver disease. The presence and nature of underlying liver disease impacts the management of portal vein thrombosis. Indications for anticoagulation in patients with cirrhosis are growing, while transjugular intrahepatic portosystemic shunt is now a second-line option. Due to the rarity of these diseases, studies yielding high-grade evidence are scarce. However, collaborative studies have provided new insight into the management of these patients. This article focuses on the causes, diagnosis, and management of patients with Budd-Chiari syndrome, portal vein thrombosis without underlying liver disease, or cirrhosis with non-malignant portal vein thrombosis