Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologistGaucher disease (GD), a rare lysosomal storage disorder caused by deficient glucocerebrosidase activity and consequent accumulation of glycosphingolipids in the mononuclear phagocyte system, may progress to disabling and potentially life-threatening complications when left undiagnosed and untreated. Unfortunately, because of non-specific signs and symptoms and lack of awareness, patients with type 1 GD, the most common non-neuropathic variant, frequently experience diagnostic delays. Since splenomegaly and thrombocytopenia are the dominant clinical features in many GD patients leading to first medical contact, the hepatologist and the gastroenterologist need to be aware of this condition.
AISF position paper on nonalcoholic fatty liver disease (NAFLD): Updates and future directionsThis review summarizes our current understanding of nonalcoholic fatty liver disease (NAFLD), a multi-factorial systemic disease resulting from a complex interaction between a specific genetic background and multiple environmental/metabolic “hits”. The role of gut microbiota, lipotoxicity, inflammation and their molecular pathways is reviewed in-depth. We also discuss the epidemiology and natural history of NAFLD by pinpointing the remarkably high prevalence of NAFLD worldwide and its inherent systemic complications: hepatic (steatohepatitis, advanced fibrosis and cirrhosis), cardio-metabolic (cardiovascular disease, cardiomyopathy, arrhythmias and type 2 diabetes) and neoplastic (primary liver cancers and extra-hepatic cancers).
Diagnostic and therapeutic role of endoscopy in gastroenteropancreatic neuroendocrine neoplasmsGastroenteropancreatic neuroendocrine neoplasms have substantially increased over the last decades. Because of the indolent clinical course of the disease even in advance stages and the rise in the incidental diagnosis of small asymptomatic lesions, the prevalence of gastroenteropancreatic neuroendocrine neoplasms is higher than that of pancreatic, gastric and oesophageal adenocarcinomas, making them the second most prevalent cancer type of the gastrointestinal tract. This increase in the overall prevalence of gastroenteropancreatic neuroendocrine neoplasms has been paralleled by a growth in the importance of the endoscopist in the care of these patients, who usually require a multidisciplinary approach.
Eosinophilic oesophagitis: From physiopathology to treatmentEosinophilic oesophagitis is a chronic inflammatory disease characterized by eosinophilic infiltration of the oesophageal mucosa. Food and aero-allergens are involved in its pathogenesis. Dysphagia and food impaction are the dominant symptoms in adult with eosinophilic oesophagitis. However, a wide range of symptoms has been noticed such as chest pain or gastro-oesophageal reflux disease-like symptoms. Upper gastro-intestinal endoscopy and oesophageal biopsies are crucial for the diagnosis of eosinophilic oesophagitis.
Diagnosis, prevention and treatment of postoperative Crohn's disease recurrenceIleocolonoscopy remains the gold standard in diagnosing postoperative recurrence. After excluding stricture, wireless capsule endoscopy seemed accurate in small series, but no validated score is available. Ultrasonography is a non-invasive diagnostic method reducing radiation exposure and emerging as an alternative tool for identifying post-operative recurrence. Computed tomography enteroclysis yields objective morphologic criteria that help differentiate between recurrent disease and fibrostenosis at the anastomotic site, but ionising radiation exposure limits its use.
MicroRNA and colorectal cancerColorectal cancer is still the third most common cancer in the world. Its carcinogenesis has been extensively studied at a molecular point of view, and has recently entered the era of microRNAs, a class small non-coding RNAs that post-transcriptionally regulate gene expression and control various cellular mechanisms. Because they control biological processes that are implicated in carcinogenesis (as developmental transitions, organ morphology, apoptosis and cell proliferation), microRNAs have been linked to cancer development, and these molecules have been recently studied as new potential biomarkers to better characterise tumour prognosis and to predict response to the different active chemotherapy.
Cholangiocarcinoma: A position paper by the Italian Society of Gastroenterology (SIGE), the Italian Association of Hospital Gastroenterology (AIGO), the Italian Association of Medical Oncology (AIOM) and the Italian Association of Oncological Radiotherapy (AIRO)The incidence of Cholangiocellular carcinoma (CCA) is increasing, due to a sharp increase of the intra-hepatic form. Evidence-ascertained risk factors for CCA are primary sclerosing cholangitis, Opistorchis viverrini infection, Caroli disease, congenital choledocal cist, Vater ampulla adenoma, bile duct adenoma and intra-hepatic lithiasis. Obesity, diabetes, smoking, abnormal biliary-pancreatic junction, bilio-enteric surgery, and viral cirrhosis are emerging risk factors, but their role still needs to be validated.
Current topics in autoimmune hepatitisAutoimmune hepatitis is a chronic liver disease of unknown aetiology characterized by interface hepatitis, hypergammaglobulinaemia and circulating autoantibodies. In the last decade a number of advancements have been made in the field of clinical and basic research: the simplified diagnostic criteria, the complete response defined as normalization of transaminase levels, the molecular identification of the antigenic targets of anti-liver cytosol antibody type 1 and anti-soluble liver antigen, the detection of anti-actin antibodies, the description of de novo autoimmune hepatitis after liver transplantation for non-autoimmune liver diseases, the characterization of autoimmune hepatitis with overlapping features of primary biliary cirrhosis or primary sclerosing cholangitis, the preliminary experience with novel treatment strategies based on cyclosporine, mycophenolate mofetil and budesonide, the role played by “impaired” regulatory T cells and the development of novel animal models of autoimmune hepatitis.
Imaging of perianal Crohn's diseasePerianal fistulas and abscesses are common complications of Crohn's disease, affecting up to 50% of patients during their disease course. Accurate diagnosis and classification of perianal disease is crucial before and during treatment to plan an adequate approach for each patient and to avoid irreversible functional consequences. Although examination under anaesthesia has been considered the gold standard for diagnosis and classification of Crohn's disease perianal fistulas, taken alone it does not have perfect accuracy, stressing the need for concomitant or alternative, non-invasive, methods of evaluation.
Wilson disease—A practical approach to diagnosis, treatment and follow-upWilson disease is an inherited, autosomal recessive, copper accumulation and toxicity disorder that affects about 30 individuals per million. This rare disease is caused by mutations in the gene encoding a copper-transporting P-type ATPase, which is important for copper excretion into bile, leading to copper accumulation in the liver. Toxic copper concentrations can also be found in the brain and kidney, and clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. Diagnosis is based on the combination of clinical features and findings such as increased urinary copper excretion, reduced levels of serum ceruloplasmin, high concentrations of copper in liver tissues and Kayser–Fleischer rings.
New perspectives for the use of contrast-enhanced liver ultrasound in clinical practiceThe introduction of second-generation microbubble ultrasound contrast agents and the development of contrast specific ultrasound techniques have improved the ability of contrast enhanced ultrasound in detecting and characterising liver lesions, offering new perspectives for its exploitation in clinical hepatology. Indeed, several studies have demonstrated a high diagnostic accuracy in focal lesion characterisation (85–96%) in patients either with or without underlying chronic liver disease. This review article describes the basic principles of contrast enhanced ultrasound, defines the different vascular features of benign and malignant liver lesions, and assesses its clinical impact in different clinical scenarios, according to the guidelines of the European Federation of Societies for Ultrasound in Medicine and Biology, contrast enhanced ultrasound enables the characterisation of focal liver lesions, regardless of the presence or absence of underlying chronic liver disease.
New frontiers in biomarkers for hepatocellular carcinomaHepatocellular carcinoma represents the fifth most frequent cancer in the world; it commonly occurs on cirrhotic liver. Prognosis and survival are still poor, mainly because of diagnosis at a late stage and/or recurrence of the disease. For this reason, surveillance strategies are widely used to screen for early occurrence of cancer in populations at risk. Alpha-foetoprotein is so far the only serological marker available, but its diagnostic accuracy is unsatisfactory because of low sensitivity despite reliable specificity.