Why are rare diseases underdiagnosed? A clinical management study on detection of primary biliary cholangitis in primary care.

Background: There are about 7,000 rare diseases that affect 10% of the world population. Primary biliary cholangitis, an autoimmune chronic liver disease of the interlobular bile ducts, is one of the most common causes of chronic cholestasis. However, it is a rare, often underdiagnosed and undertreated, disease which can lead to cirrhosis and liver failure.

Quality of Life and Its Psychosocial Predictors among Patients with Disorders of Gut-Brain Interaction: A Comparison with Age- and Sex-Matched Controls.

The disorders of gut-brain interaction (DGBIs) are a heterogeneous group of chronic conditions that greatly reduce patients' quality of life (QoL). To date, biopsychosocial factors (such as gastrointestinal symptoms, alexithymia, and interpersonal problems) are believed to contribute to the development and maintenance of DGBIs, but their role in affecting patients' QoL is still under investigation. Out of 141 patients seeking treatment for their gastrointestinal symptoms, 71 were diagnosed with a DGBI (47 females, 66.

Mediterranean-Oriented Dietary Intervention Is Effective to Reduce Liver Steatosis in Patients with Nonalcoholic Fatty Liver Disease: Results from an Italian Clinical Trial.

Results: One hundred and fifty five subjects aged 20-59 years underwent (i) liver ultrasound (US), (ii) clinical and anthropometric evaluations, (iii) blood tests, and (iv) assessment of dietary habits. According to US evaluation, 73 of them had severe, moderate, or mild liver steatosis (NAFLD patients) and 82 had no liver steatosis (healthy controls). Fifty-eight NAFLD patients and 73 controls completed the study.

Metabolic dysfunction outperforms ultrasonographic steatosis to stratify hepatocellular carcinoma risk in patients with advanced hepatitis C cured with direct-acting antivirals.

Background And Aims: Metabolic dysfunction (MD)-associated fatty liver disease has been proposed to identify individuals at risk of liver events irrespectively of the contemporary presence of other liver diseases. The aim of this study was to examine the impact of MD in patients cured of chronic hepatis C (CHC).

Patients And Methods: We analysed data from a real-life cohort of 2611 Italian patients cured of CHC with direct antiviral agents and advanced liver fibrosis, without HBV/HIV, transplantation and negative for hepatocellular carcinoma (HCC) history (age 61.

Dysmetabolism, Diabetes and Clinical Outcomes in Patients Cured of Chronic Hepatitis C: A Real-Life Cohort Study.

The aim of this study was to examine the impact of features of dysmetabolism on liver disease severity, evolution, and clinical outcomes in a real-life cohort of patients treated with direct acting antivirals for chronic hepatitis C virus (HCV) infection. To this end, we considered 7,007 patients treated between 2014 and 2018, 65.3% with advanced fibrosis, of whom 97.

Evaluation of Cardiovascular Risk in Patient with Primary Non-alcoholic Fatty Liver Disease.

Introduction: The study aimed to investigate, in patients with primary non-alcoholic fatty liver disease (NAFLD), the presence of possible relationships between the degree of steatosis or fibrosis and the individual cardiovascular risk and possibly whether a difference between those various methods exists.

Methods: Thirty-four adult patients with primary NAFLD were included in this study. Clinical evaluation included an ultrasonographic examination for the determination of the severity of steatosis.

Renal safety in 3264 HCV patients treated with DAA-based regimens: Results from a large Italian real-life study.

Background: Sofosbuvir (SOF)-based regimens have been associated with renal function worsening in HCV patients with estimated glomerular filtration rate (eGFR) ≤ 45 ml/min, but further investigations are lacking.

Aim: To assess renal safety in a large cohort of DAA-treated HCV patients with any chronic kidney disease (CKD).

Methods: All HCV patients treated with DAA in Lombardy (December 2014-November 2017) with available kidney function tests during and off-treatment were included.

Addicts with chronic hepatitis C: difficult to reach, manage or treat?

Aim: To assess the acceptance, safety and efficacy of care and treatment for chronic hepatitis C (CHC) in drug addicts.

Methods: We designed a multidisciplinary, phase IV prospective cohort study. All illicit drug users (IDUs) visited a Territorial Addiction Service (SerT) in the District of Brescia, and hepatitis C antibody (HCVAb) testing positive were offered as part of a standardised hepatologic visit in our Gastroenterology Unit.

Factors that contribute to hypertransaminasemia in patients with celiac disease or functional gastrointestinal syndromes.

Background & Aims: Transaminasemia develops via different pathways in patients with celiac disease; no information is available on risk factors specifically attributable to celiac disease.

Methods: We analyzed data collected from consecutive patients referred from January 1997 through December 2009 to the celiac disease clinic at the Spedali Civili of Brescia, Italy. We assessed the factors affecting hypertransaminasemia in 683 patients with celiac disease (based on serologic and biopsy analysis, cohort A; 34 ± 14 years of age) and 304 with functional syndromes (cohort B; 37 ± 13 years of age).

Increased serum gamma-glutamyl-transpeptidase concentration is associated with nonalcoholic steatosis and not with cholestasis in patients with chronic hepatitis C.

Background And Aim: Increased pretreatment gamma-glutamyl-transpeptidase (gammaGT) is common in patients with chronic hepatitis C and with little or no alcohol consumption. The mechanism involved in this phenomenon is unclear, and the aim of this study was to investigate factors associated with increased gammaGT levels, specifically looking at the role of cholestasis that frequently accompanies hepatitis C.

Methods: Fifty patients with chronic hepatitis C enrolled in two trials of antiviral treatment, 25 with normal and 25 with elevated pretreatment gammaGT levels, were retrospectively selected.

Efficacy and tolerability of combination therapy with interferon-alfa plus ribavirin in patients with chronic hepatitis C virus infection: a single-center study in relapsers and nonresponders to previous treatment with high-dose interferon-alfa monotherapy.

Background: In chronic hepatitis C virus (HCV) infection, interferon (IFN) monotherapy usually is carried out at doses of 3 to 6 million units (MU) 3 times per week, but treatment efficacy is low.

Objective: The aim of our study was to assess the efficacy and tolerability of IFN-alfa2b in combination with ribavirin in relapsers and nonresponders to high-dose IFN treatment (5 to 6 MU 3 times per week). We measured the biochemical and virologic responses to treatment and the risk for relapse during the 24 weeks following the end of treatment.