ESPE Yearbook of Paediatric Endocrinology

Atherosclerosis. 2021 Feb;319:108–117. doi: 10.1016/j.atherosclerosis.2021.01.008. PMID: 33508743.In brief: This multi-centre study included 2866 children with familial hypercholesterolemia (FH) from 8 European countries. The mutation spectrum was assessed, as were associations between gene mutations and clinical characteristics and pre and post-treatment lipid ...

Lancet Healthy Longevity 2021 10.1016/S2666-7568(21)00086-6.In brief: Using a multivariable Mendelian randomization approach, genetic data on lipoprotein lipid levels and disease outcomes indicated that higher Apolipoprotein B (ApoB) levels increase the risks of coronary heart disease, stroke and T2DM, and shorten longevity. ApoB is emerging as a more sensitive measure of disease r...

J Med Biochem. 2020 Sep 2;39(3):283–289. doi: 10.2478/jomb-2019-0038. PMID: 33269016.In brief: This case report serves as a platform to discuss the differential diagnosis of severe hypercholesterolemia. A young woman with T1DM and autoimmune liver disease presented with an LDL cholesterol value >1000 mg/dl (>26 mmol/l). She had no family history to suggest familial hyp...

Nat Med. 2020 Sep;26(9):1375–1379. doi: 10.1038/s41591-020-1007-0. PMID: 32778826.In brief: A subtype of autism arising from a cluster of genes that regulate both cholesterol metabolism and brain development was identified by integrating multiple data modalities.Comment: Autism spectrum disorder (ASD) is now estimated to affect 1:54 children ...