Introduction: Wilson disease (WD) is an inherited disorder of human copper metabolism, characterised by accumulation of copper predominantly in the liver and brain, leading to severe hepatic and neurological disease. Interesting findings in animal models of WD (Atp7b^-/- and LEC rats) showed altered lipid metabolism with a decrease in the amount of triglycerides and cholesterol in the serum. However, serum lipid profile has not been investigated in large human WD patient cohorts to date. Patients and Methods: This cohort study involved 251 patients examined at the Heidelberg and Dresden (Germany) University Hospitals. Patients were analysed on routine follow-up examinations for serum lipid profile, including triglycerides, cholesterol, high density lipoprotein (HDL) and low density lipoprotein (LDL). Data on these parameters at time of diagnosis were retrieved by chart review where available. For statistical testing, patients were subgrouped by sex, manifestation (hepatic, neurological, mixed and asymptomatic) and treatment (D-penicillamine, trientine, zinc or combination). Results: A significant difference in total serum cholesterol was found in patients with hepatic symptoms, which diminished under therapy. No alterations were observed for HDL, LDL and triglycerides. Conclusion: Contradictory to previous reports using WD animal models (Atp7b^-/- and LEC rats), the most obvious alteration in our cohort was a lower serum cholesterol level in hepatic-affected patients, which might be related to liver injury. Our data suggested unimpaired cholesterol metabolism in Wilson disease under therapy, independent of the applied medical treatment.

Introduction: Standardization of diagnostic criteria of autoimmune hepatitis (AIH) and primary biliary cholangitis (PBC) variant syndrome (AIH-PBC VS) has not been achieved so far and evidence-based recommendations for monitoring and treatment of the disease are still lacking. Our study aimed to assess the prevalence, biochemical, and serological features, as well as the clinical course, of VS. Methods: We performed a retrospective study including all patients with VS between 1999 and 2020 in four German centers. Data on demographic parameters, biochemical and serological tests, treatment, and outcome were collected. Results: Of 90 patients (3.1%) meeting Paris criteria for VS diagnosis, 65.6% showed AIH and PBC histological features, while biochemical Paris criteria were observed comparatively rarely. Further antibodies, which were not part of the diagnostic criteria of VS, were found in a subgroup of patients with available data (ACA: 30.0%; anti-CENP-A: 25.0%; anti-CENP-B: 33.3%; anti-SP100: 21.4%). Biochemical response was more frequently observed in patients treated with a combined therapy of ursodeoxycholic acid (UDCA) and immunosuppression (IS). Liver cirrhosis was detected in 31 patients (34.4%) and 25 patients (27.8%) developed clinical manifestations of portal hypertension. Conclusions: Biochemical Paris criteria of VS were rarely detected, thus implying that these cut-off values should be redefined. Regarding pharmacological treatment, combined therapy of UDCA and IS appeared to be more effective than monotherapy with UDCA.

Background & aims: Invasive fungal infections (IFIs) are increasingly recognized as a severe and often underdiagnosed complication in critically ill patients with liver cirrhosis. Cirrhosis-associated immune dysfunction, and advanced disease stage contribute to an elevated risk, particularly in the intensive care unit (ICU). Despite their high mortality, data on the epidemiology and timing of IFIs in ICU-treated cirrhotic patients remain limited. We aimed to determine the prevalence, timing, and impact of IFIs on 30- and 90-day survival in this high-risk population. Methods: This retrospective single-center cohort study included 488 patients with liver cirrhosis who were admitted to ICU between January 2014 and December 2019. Patients were evaluated for the presence of IFIs during their hospital stay and stratified into Non-IFI ( n = 458) and IFI ( n = 30) groups. Comparative analyses were performed with a specific focus on invasive candidiasis and invasive pulmonary aspergillosis. Results: IFI prevalence was 6.1%. Invasive candidiasis and invasive pulmonary aspergillosis were diagnosed in 46.7% and 53.3% of IFI cases, with a median onset of 14.5 (6.50–24.00) and 17.5 (7.75-36.00) days, respectively. IFI patients had significantly more advanced liver disease reflected by higher MELD ( p < 0.001) score and more severe ACLF ( p = 0.009) and required significantly more invasive procedures such as dialysis ( p < 0.001) parenteral nutrition ( p < 0.001), and mechanical ventilation ( p = 0.002). In addition, bacterial infections at admission were more common in IFI patients. The occurrence of IFI was associated with significantly reduced 30- and 90-day survival, particularly in patients with ACLF. Conclusion: These findings highlight the need for IFI surveillance in critically ill cirrhosis patients, particularly in those with ACLF and bacterial infections at admission.