ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: N Engl J Med. 2019;381(16):1547–56. doi: 10.1056/NEJMoa1816454Short summary: Twenty years of treatment of statin therapy in children with Familial Hypercholesterolemia (FH) slowed the progression of carotid intima–media thickness and reduced the risk of cardiovascular disease in adulthood. By age 39 years, the cumulative incidence of cardiovascul...

Brief Summary: This double-blind, randomized trial, showed that 2 dosing regimens of alirocumab, a human monoclonal antibody to proprotein convertase subtilisin kexin type 9 (PCSK9), reduced LDL-C in children as young as 8 years with heterozygous familial hypercholesterolemia inadequately controlled by statins. Efficacy was sustained over 2 years, and both regimens were generally well tolerated.Comment: Heterozygous familial hypercholesterolemia (HeFH) i...

To read the full abstract: Circulation 2017;136:359-366The National Heart, Lung and Blood Institute Panel on integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents recommended a universal screening approach that would include one-time testing of all children aged 9-11 years for dyslipidemia. This recommendation has raised controversy regarding t...

Brief Summary: Data from two large registries of children with homozygous familial hypercholesterolemia (HoFH) revealed that initiating lipoprotein apheresis in childhood, compared to pharmacotherapy, improves plasma LDL-C level and reduces cardiovascular death.Comment: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder, which results in extremely elevated low-density lipoprotein cholesterol (LDL-C) levels and premature atheros...

Homozygous familial hypercholesterolemia (HoFH) is a severe disorder caused by genetic mutations in LDLR (encoding the LDL receptor), APOB or PCSK9. LDL-C levels in HoFH are extremely elevated)>400 mg/dL(even in utero, leading to cardiovascular events, and disability or death during childhood and adolescence. Conventional medications have minimal efficacy, since LDL-C levels cannot be reduced through upregulation of hepatic LDL receptors.<p c...

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 ...

Brief summary: In May 2023, the European Atherosclerosis Society (EAS) released an update to its 2014 consensus on homozygous familial hypercholesterolemia (HoFH). The 2023 statement provides updated diagnostic criteria, screening recommendations, treatment algorithms, guidance about family planning, and new insights into the genetics of the disease.Comment: Here is a brief summary of the new findings and recommendations of the updated consensus:<p c...