Budd-Chiari syndrome (BCS) is an uncommon disorder characterized by obstruction of hepatic venous outflow. The primary BCS is a rare disease with an incidence about 0.2 per million inhabitants per year. We present a 3-year-old boy with intrahepatic inferior vena cava clot. Because of decreased levels of protein C (38.7 %), F II (69.1 %), and activated protein C resistance (1.43), a mutational gene analysis was performed. The patient was found to be homozygous for the FV G1691A mutation.

Conclusion:

The primary BCS is a rare disease especially in childhood. Activated protein C resistance caused by the factor V Leiden mutation may be responsible for primary BCS. Prompt recognition of underlying prothrombotic disease and early initiation of their specific therapy might translate into rapid improvement of liver disease.

To evaluate long-term complications and survival in patients with Budd-Chiari syndrome (BCS) referred to a Danish transjugular intrahepatic portosystemic shunt (TIPS) centre.Twenty-one consecutive patients from 1997-2008 were retrospectively included [15 women and 6 men, median age 40 years (range 17-66 years)]. Eighteen Danish patients came from the 1.8 million catchment population of Aarhus University Hospital and three patients were referred from Scandinavian hospitals. Management consisted of tests for underlying haematological, endocrinological, or hypercoagulative disorders parallel to initiation of specific treatment of BCS.BCS was mainly caused by thrombophilic (33%) or myeloproliferative (19%) disorders. Forty-three percents had symptoms for less than one week with ascites as the most prevalent finding. Fourteen (67%) were treated with TIPS and 7 (33%) were manageable with treatment of the underlying condition and diuretics. The median follow-up time for the TIPS-treated patients was 50 mo (range 15-117 mo), and none required subsequent liver transplantation. Ascites control was achieved in all TIPS patients with a marked reduction in the dose of diuretics. A total of 14 TIPS revisions were needed, mostly of uncovered stents. Two died during follow-up: One non-TIPS patient worsened after 6 mo and died in relation to transplantation, and one TIPS patient died 4 years after the TIPS-procedure, unrelated to BCS.In our BCS cohort TIPS-treated patients have near-complete survival, reduced need for diuretics and compared to historical data a reduced need for liver transplantation.

Myeloproliferative disorders (MPD) (like polycythemia vera, essential thrombocythemia and primary myelofibrosis) are responsible for 50% cases of Budd-Chiari syndrome (BCS) and 35% cases of portal venous thrombosis (PVT) in western series. A point mutation at Val617Phe of Janus kinase 2 tyrosine kinase gene (JAK2(V617F) mutation) occurs in high proportion with MPD. This may be useful in diagnosing overt and latent form of MPD in intra-abdominal venous thrombosis (IAVT), consisting of BCS and PVT.In a 4 year prospective study from 2006 to 2009, JAK2 mutations were assessed in all patients diagnosed with MPD and IAVT attending our institution. Twenty three healthy individuals and 31 patients with non-MPD hematological disorders served as controls. All patients of idiopathic IAVT were tested for the mutation. Test for JAK2(V617F) mutation was carried out by allele specific polymerase chain reaction.JAK2(V617F) mutation was significantly more common in MPD patients (76%) than in non-MPD hematological disorders (0%) and healthy controls (0%). There was no statistical difference in presence of JAK2(V617F) mutation in patients of MPD with or without thrombosis (80% vs. 74%). In 58 patients with IAVT, the JAK2(V617F) mutation was present in 40% with BCS, 14% with PVT and 100% combined BCS+PVT).The JAK2(V617F) mutation occurs at high frequency in patients with MPD and IAVT. All idiopathic IAVT patients must be screened for JAK2(V617F) mutation to detect latent MPD. Detection of latent MPD by JAK2(V61F) mutation in BCS may change treatment strategy and outcome.

GOALS:: We aimed to present our long-term surveillance experience in patients with Budd-Chiari syndrome (BCS), and we retrospectively evaluated the natural history, results of thrombophilia studies, and the factors related to mortality.

BACKGROUND::

Primary BCS is a rare form of vascular disease, secondary to underlying thrombophilia. Because of its rarity and heterogeneous nature, there is a scarcity of knowledge about the natural history of the disease. STUDY AND

RESULTS::

In 22 years, a total of 62 patients with primary BCS were followed in our tertiary hospital. We identified an acquired cause of BCS in 40 out of 62 patients (64.5%), whereas in 6 patients (9.7%), we found no identifiable cause. One or more thrombophilia causes were identified in 56 patients (90.3%). In 19 patients with myeloproliferative disease, 15 had Janus tyrosine kinase 2 mutation analysis and Janus tyrosine kinase 2 positivity was found in 10 patients. In regression analysis, portal vein thrombosis was found to be the only indicator of mortality, with an estimated instantaneous risk of 8.4.

CONCLUSIONS::

In this study, we present one of the largest series of BCS in the English literature. We have shown that the multifactorial nature of underlying thrombophilia should be thoroughly investigated. In a patient with BCS, a clinician should be alert for the development or coexistence of portal vein thrombosis due to its deleterious effect on mortality.

An 18-month-old female status post-orthotopic liver transplant for biliary atresia presented nine months after transplant with severe diarrhea and intolerance of feeds. She was found to have a PLE as evidenced by a low serum albumin and a persistent elevation of fecal A1AT. Investigation eventually revealed that the cause of the PLE was a stricture at the anastomosis site between the hepatic vein and inferior cava, supported by resolution of the PLE after venoplasty of the stricture. The patient has subsequently required several repeat venoplasties for recurrence of her symptoms correlating with recurrence of the stricture. This is a very rare presentation of hepatic venous outflow obstruction. Moreover, normal duplex ultrasound imaging of liver vasculature and her unusual presentation led to a delay in her diagnosis highlighting the need for an increased index of suspicion.

In humans, alveolar echinococcosis (AE) of the liver is caused by canine tapeworm called Echinococcus multilocularis. The disease is most prevalent in the northern hemisphere and in the eastern part of Turkey.The aim of the study was to review the natural history of AE and its clinical and radiological features.The retrospective study involved 23 patients (10 men, 13 women), aged 34-75 years with AE who had been referred to our liver disease clinic in the past 4 years. Only patients with pathologically proven AE were included in the study. The sociodemographic, clinical, and radiological features of AE were also evaluated.The main laboratory characteristics of AE included mild eosinophilic leukocytosis with hypergammaglobulinemia, elevated C-reactive protein levels, near-normal liver transaminases, and increased levels of cholestatic enzymes and immunoglobulin E. Eight patients (35%) had hepatitis B e antigen-negative hepatitis B infection. Budd-Chiari syndrome was identified in 3 of 23 patients (13%). Eighty-three percent of the patients had a seropositive test result for AE, and approximately one-third of the patients had distant metastasis. Surgical treatment was administered in 4 patients. Four patients died due to complications during follow-up.Patients with AE have numerous complications and advanced disease at the time of diagnosis. The clinical picture of AE comprises a number of hepatic and extrahepatic disturbances related both to destructive and mass effects of the tapeworm.

Familial Mediterranean fever is characterised by recurrent, febrile, inflammatory attacks of the serosal membranes. Prolonged inflammatory response is triggered secondary to cytokine stimulation due to reduced activity of pyrin. Inflammatory cytokines play major role in the pathogenesis of acute liver injury; and chronic, recurrent cytokine production may cause chronic hepatitis/cirrhosis. We aimed to analyse liver involvement in children with Familial Mediterranean fever.The study included 58 patients with Familial Mediterranean fever. Patients with liver involvement were examined in detail.Liver involvement was seen in 11 of 58 patients (18.9%). Two patients (3.4%) had abnormal liver enzymes during the diagnostic evaluation, whilst 9 patients (15.5%) were admitted with the features of liver diseases, and had final diagnosis of Familial Mediterranean fever (2 had Budd-Chiari syndrome, 5 had chronic hepatitis/cirrhosis, 2 had acute hepatitis). None of the demographic factors or laboratory findings was different between the patients with or without liver involvement M694V allele was more common in patients with liver involvement but did not reach significant difference (50% vs. 33.6%, p=0.21). All the patients showed clinical and laboratory improvement after colchicine.Paediatric hepatologists must keep Familial Mediterranean fever in mind in the patients with cryptogenic hepatitis/cirrhosis especially in regions where hereditary inflammatory diseases are common.

This article overviews principles of portal hypertension and the role of implantation of a transjugular intrahepatic postosystemic shunt (TIPS) in its management. Since TIPS is available for over 30 years, technical achievements have been made and knowledge about indications, contraindications and patient selection has been improved. Recent studies and guidelines may lead to an increase in TIPS implantation rates. This review aims to commemorate the merits and demerits of TIPS in current clinical practice.