The epidemiology of Budd–Chiari syndrome in France

IntroductionEpidemiological data is lacking on primary Budd–Chiari syndrome (BCS) in France.MethodsTwo approaches were used:(1) A nationwide survey in specialized liver units for French adults.(2) A query of the French database of discharge diagnoses screening to identify incident cases in adults. BCS associated with cancer, alcoholic/viral cirrhosis, or occurring after liver transplantation were classified as secondary.ResultsApproach (1) 178 primary BCS were identified (prevalence 4.04 per million inhabitants (pmi)), of which 30 were incident (incidence 0.68 pmi). Mean age was 40 ± 14 yrs. Risk factors included myeloproliferative neoplasms (MPN) (48%), oral contraceptives (35%) and factor V Leiden (16%). None were identified in 21% of patients, ≥2 risk factors in 25%. BMI was higher in the group without any risk factor (25.7 kg/m² vs 23.7 kg/m², p < 0.001).Approach (2) 110 incident primary BCS were admitted to French hospitals (incidence 2.17 pmi). MPN was less common (30%) and inflammatory local factors predominated (39%).ConclusionThe entity of primary BCS as recorded in French liver units is 3 times less common than the entity recorded as nonmalignant hepatic vein obstruction in the hospital discharge database. The former entity is mostly related to MPN whereas the latter with abdominal inflammatory diseases.     

A case of Budd–Chiari syndrome with Behcet’s disease and oral contraceptive usage

We present a case of Budd–Chiari syndrome (BCS) having two risk factors, Behcet’s disease (BD) and oral contraceptive (OC) usage. A 33-year-old woman with BD was admitted to the Emergency Unit with nausea, vomiting, abdominal pain, abdominal distention, and confusion started 12 days ago before admission. Since the patient was in a shock state, she was taken to the Intensive Care Unit (ICU) with the suspicion of abdomen-originated sepsis. Abdominal ultrasound showed massive hepatosplenomegaly and moderate ascites. Abdominal MRI revealed an inferior vena cava (IVC) obstruction starting above the renal veins and diffuse thrombosis of the right and medial hepatic veins. An extensive thrombosis of the IVC and the hepatic veins (BCS) which led to shock was diagnosed. In addition to BD, the unnotified OC usage for a year by the patient without her doctor’s knowledge was recognized as possible precipitating factor of BCS. Pulse methylprenisolone was started for three consecutive days to treat active BD-induced vasculitis. IVC digital subtraction angiography (DSA) showed occlusion of the IVC below the hepatic veins with extensive collateral circulation originating at the occlusion level suggesting that obliteration had a subacute or chronic course. Since intralesional thrombolytic therapy failed, the patient was transferred to a liver transplantation center. While waiting for an appropriate donor, the patient died due to hepatic failure. Since BCS is mortal and deemed multi-factorial, every patient with a thrombotic risk factor such as BD should be questioned for other possible causes of thrombosis.     

Small hepatic veins Budd–Chiari syndrome

Budd–Chiari syndrome is a rare disorder characterized by hepatic venous outflow obstruction at any level from the small hepatic veins to the atrio-caval junction, in the absence of heart failure or constrictive pericarditis. Various imaging modalities are available for investigating the gross hepatic vascular anatomy but there are rare forms of this disease where the obstruction is limited to the small intrahepatic veins, with normal appearance of the large hepatic veins at imaging. In this cases only a liver biopsy can demonstrate the presence of a small vessels outflow block. We report two cases of small hepatic veins Budd–Chiari syndrome.     

Essential thrombocythemia with Mpl W515 K mutation in a child presenting with Budd–Chiari syndrome

Essential thrombocythemia (ET) is an extremely rare childhood disorder characterised by clonal expansion of megakaryocytic lineage in bone marrow, leading to a persistent increase in the number of circulating thrombocytes and thus increased risk for thrombotic and haemorrhagic events. The molecular mechanisms of ET are not fully understood. Most children with ET have the JAK2 V617F somatic mutation; however, another mutation, involving a W to L or K substitution at Mpl codon 515, was reported in a small proportion of adult ET patients that is extremely rare in children. Herein, we describe a Mpl W515K somatic mutation in a paediatric case of ET who presented with Budd–Chiari syndrome. No paediatric patient harbouring a Mpl W515K mutation has been previously reported.     

Metabolic syndrome in adult patients with Prader–Willi syndrome

Background and aimsPrader–Willi syndrome (PWS), the most common genetic cause of obesity, is characterized by elevated morbility and mortality in all ages. In this context, non-obese PWS children showed low frequency of metabolic syndrome (MetS), while a comparable prevalence was observed in obese PWS and obese controls. Aim of this study was to estimate the occurrence of MetS and its components in a large group of PWS adults, according to obesity status.Methods and resultsA cross-sectional study was performed in 108 PWS aged 18.0–43.2 years (87 obese and 21 non-obese) and in 85 controls with nonsyndromic obesity matched for age, gender, and BMI with obese PWS.Non-obese PWS showed lower waist circumference, insulin, HOMA-index, triglycerides, diastolic blood pressure, and higher HDL-C than both obese PWS and obese controls (p < 0.017). Obese PWS showed higher glucose and systolic blood pressure than both non-obese PWS and obese controls (p < 0.017). MetS was found in 1/21 (4.8%) non-obese PWS, 36/87 (41.4%) obese PWS and 39/85 (45.9%) obese controls. Non-obese PWS showed lower frequency for each MetS component as compared with obese PWS and obese controls. PWS patients with deletion of the chromosome 15q11–13 showed a lower risk for low HDL-C (p < 0.01) and a trend towards a lower MetS risk (p < 0.06) compared to subjects without deletion.ConclusionOur findings suggest the main role that obesity status plays on the individual metabolic risk clustering in PWS adults. Early identification of MetS could be helpful to improve morbidity and prevent mortality in such patients.     

Successful recanalization of occluded intrahepatic inferior vena cava in post-liver transplant Budd–Chiari syndrome

Budd–Chiari syndrome following a liver transplant is an uncommon phenomenon. We present a case of endovascular management of a focal circumferential inferior vena cava (IVC) occlusion at the anastomosis that developed 10 years after orthotopic liver transplantation. It was successfully recanalized using the stiff end of the guidewire and percutaneous transluminal angioplasty with a high-pressure balloon. During a 14-month follow up, the IVC remained patent and did not require further intervention.     

Application of glucosidorum tripterygii tororum as an immune intervention therapy in patients with type 1 diabetes mellitus

Objective To observe the effectiveness of glucosidorum tripterygii tororum (GTT) as an immune intervention therapy in patients with type 1 diabetes mellitus. Methods Under basic treatment with insulin, 46 patients with type 1 diabetes were randomly divided into the treatment group, in which GTT was given 10 mg thrice daily for 6-months, and the control group, 23 cases in each     

Endovascular stenting of IVC using Brockenborough's needle in Budd–Chiari syndrome – A case report

A young female presented with Budd–Chiari syndrome due to membranous obstruction of inferior vena cava. Membrane was quite thick with complete occlusion of the IVC. She had a previous unsuccessful attempt at endovascular stenting using conventional CTO wire technique. She was successfully treated with balloon angioplasty and stenting after perforation of the thick membrane with Brokenborough''s needle. At three months follow-up she was asymptomatic with patent stent.     

Direct oral anticoagulant administration in cirrhotic patients with portal vein thrombosis: What is the evidence?

In recent years, the traditional concept that cirrhosis-related coagulopathy is an acquired bleeding disorder has evolved. Currently, it is known that in cirrhotic patients, the hemostatic system is rebalanced, which involves coagulation factors, fibrinolysis and platelets. These alterations disrupt homeostasis, skewing it toward a procoagulant state, which can lead to thromboembolic manifestations, especially when hemodynamic and endothelial factors co-occur, such as in the portal vein system in cirrhosis. Portal vein thrombosis is a common complication of advanced liver cirrhosis that negatively affects the course of liver disease, prognosis of cirrhotic patients and success of liver transplantation. It is still debated whether portal vein thrombosis is the cause or the consequence of worsening liver function. Anticoagulant therapy is the mainstay treatment for acute symptomatic portal vein thrombosis. In chronic portal vein thrombosis, the role of anticoagulant therapy is still unclear. Traditional anticoagulants, vitamin K antagonists and low-molecular-weight heparin are standard-of-care treatments for portal vein thrombosis. In the last ten years, direct oral anticoagulants have been approved for the prophylaxis and treatment of many thromboembolic-related diseases, but evidence on their use in cirrhotic patients is very limited. The aim of this review was to summarize the evidence about the safety and effectiveness of direct oral anticoagulants for treating portal vein thrombosis in cirrhotic patients.     

Staged versus “one-time” multivessel intervention in elderly patients with non-ST-elevation acute coronary syndrome

Objective To evaluate the clinical outcomes of “one-time” versus staged multivessel stenting in elderly (≥ 60 years) patients with non-ST-elevation acute coronary syndrome (NSTE-ACS) and multivessel disease (MVD). Methods We analyzed data of consecutive NSTE-ACS patients with multivessel percutaneous coronary intervention (PCI) who were enrolled in General Hospital of Shenyang Military Region between 2008 and 2012. A total of 1090 eligible patients aged ≥ 60 were further categorized into “one-time” group (n = 623) and staged PCI group (n = 467) according to intervention strategy. The primary endpoint was composite outcome of myocardial infarction (MI) or cardiac death during 3-year follow-up. Results The estimated 3-year composite rate of cardiac death or MI was 7.0% in the staged PCI group and 9.5% in the “one-time” group (P = 0.110). Multivariate analysis confirmed the benefit of staged PCI on the primary events in the elderly (HR: 0.638, 95% CI: 0.408 –0.998, P = 0.049). In a propensity score matched cohort, staged PCI was associated with lower rates of primary events (6.1% vs. 10.4%, P = 0.046) and MI (3.4% vs. 7.4%, P = 0.037) at three years. In addition, there were reduced trends in the stent thrombosis at 30 days (0.3% vs. 1.4%, P = 0.177) and at three years (1.1% vs. 2.4%, P = 0.199) in the staged PCI group. There was no significant difference in the 3-year target vessel revascularization (15.5% vs. 14.4%, P = 0.746). Conclusions In elderly NSTE-ACS patients with MVD, staged PCI might be an optimal strategy associated with reduced long-term cardiac death or MI compared with “one-time” PCI strategy, which needs further confirmation.     

Ocular surface assessment in patients with obstructive sleep apnea–hypopnea syndrome

Purpose

The aim of this study was to assess the correlation between ocular surface changes and disease severity in patients with obstructive sleep apnea–hypopnea syndrome (OSAHS).

Methods

Two hundred eighty patients with OSAHS were compared with respect to the presence of a floppy eyelid syndrome (FES), Ocular Surface Disease Index (OSDI) questionnaire, the corneal fluorescein staining stages, the Schirmer I test, and tear film break-up time (TBUT) values.

Results

Based on the apnea–hypopnea index, the presence of FES was detected at the following rates: 23.1 % in non-OSAHS group (A), 41.7 % in mild group (B), 66.7 % in moderate group (C), and 74.6 % in severe group (D); severe and moderate stage of FES was found in groups C and D and mild stage of FES in group B (p?<?0.01). OSDI questionnaire values were as follows: group A, 12.57?±?17.64; group B, 22.90?±?16.78; group C, 45.94?±?22.03; and group D, 56.68?±?22.85(p?<?0.01). Schirmer values were as follows: group A, 10.76?±?3.58 mm; group B, 9.83?±?2.53 mm; group C, 7.73?±?2.42 mm; and group D, 6.97?±?2.15 mm (p?<?0.01). The TBUT values were as follows: group A, 10.53?±?3.64 s; group B, 9.46?±?2.40 s; group C, 7.29?±?2.13 s; and group D, 6.82?±?2.20 s (p?<?0.01). Corneal staining scores are as follows: 0.26?±?0.60 in group A, 0.40?±?0.71 in group B, 0.98?±?0.72 in group C, and 1.14?±?0.90 in group D, and the differences were statistically significant among the groups(p?<?0.01).

Discussion

OSAHS, particularly the moderate and severe forms, is associated with low Schirmer and TBUT values and high scores in OSDI questionnaire and corneal staining pattern stage. The presence of FES is observed as a practically constant finding in OSAHS. If complaints such as burning, stinging, and itching which can be commonly observed in middle-aged patients are accompanied by FES, the patient should be evaluated for sleep disorders. We speculate that appropriate treatment of OSAHS may result in better control of these symptoms.     

Transsphenoidal approach for pituitary adenomas in patients with McCune–Albright syndrome

The feasibility of transsphenoidal approach under a guidance of neuronavigation was explored to remove pituitary adenomas for patients with McCune–Albright syndrome (MAS). From August, 2008 to July, 2010, there were 5 patients diagnosed with MAS associated with a pituitary adenoma in our department of Peking Union Medical College Hospital. All the patients underwent transsphenoidal surgery for the removal of pituitary adenomas with the assistant of neuronavigation and all the procedures went uneventfully. Four of the five patients have got cured radiologically by imaging and 3 of them have got cured based on endocrinological criteria. Transsphenoidal approach under the neuronavigational guidance is a safe and effective management for the MAS patients with pituitary adenomas.