ESPE Abstracts

Background: Familial hypercholesterolemia (FH) is the most common monogenic disorder causing premature atherosclerotic cardiovascular disease (ACVD), particularly early coronary artery disease. Homozygous FH (HoFH) is rare and can be clinically silent in most cases, contributing to delay in diagnosis till the occurrence of potentially fatal cardiovascular events (CVE). Patients with HoFH can be highly resistant to standard pharmacological therapies, and treatm...

Background: The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We aim ed to describe our real-life approach of variant re-assessment over time for managing classification uncertainty in the diagnosis of monogenic obesity, and to infer if population data updates and novel functional evidence are decreasing inconclusive variants.Methods: We tested 101 children/adolescents (...

Background and aim: Fibroblast growth factor 21 (FGF21) is produced and expressed in several tissues but mainly in the liver and adipose tissue, where it has endocrine and paracrine functions. Several experimental studies reported that FGF21 decreases lipogenesis, triggers beta oxidation of fatty acids, reduces hepatic ER stress and VLDL release and reduces fasting and postprandial triacylglycerols (TG). Consistently, several phase 2 trials with FGF21-agonists...