AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvementLysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins. The consequence is a progressive accumulation of substrates in these intracellular organelles, resulting in cellular and tissue damage. The overall incidence is about 1/8000 live births, but is likely underestimated. LSDs are chronic progressive multi-systemic disorders, generally presenting with visceromegaly, and involvement of the central nervous system, eyes, the skeleton, and the respiratory and cardiovascular systems.
The efficacy and safety of statins for the treatment of non-alcoholic fatty liver diseaseNon-alcoholic fatty liver disease is an emerging liver disease in Western countries and the most frequent cause of incidental elevation of serum liver enzymes. Dyslipidaemia is frequently observed in patients with non-alcoholic fatty liver disease, and treatment of dyslipidaemia plays a critical role in the overall management of these patients. Moreover, coronary artery disease remains the most common cause of death. Statins are effective lipid-lowering agents, associated with a lowering the risk of cardiovascular events in several interventional randomized clinical trials.
Bleeding and thrombosis in cirrhotic patients: What really matters?Bleeding complications, particularly in the gastro-intestinal tract, may complicate the clinical course of liver cirrhosis. Coexistence of abnormal global tests exploring the platelet and clotting systems generated the hypothesis that cirrhotic patients have “coagulopathy” predisposing to bleeding complications. Using more sophisticated laboratory methods this hypothesis has been partly confuted as cirrhotic patients actually disclose an ongoing prothrombotic state in the portal and systemic circulation that could predispose to thrombosis.