@article{3105264,
    title = "Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries",
    author = "Ramaswami, U. and Futema, M. and Bogsrud, M.P. and Holven, K.B. and Roeters van Lennep, J. and Wiegman, A. and Descamps, O.S. and Vrablik, M. and Freiberger, T. and Dieplinger, H. and Greber-Platzer, S. and Hanauer-Mader, G. and Bourbon, M. and Drogari, E. and Humphries, S.E.",
    journal = "Atherosclerosis",
    year = "2020",
    volume = "292",
    pages = "178-187",
    publisher = "Elsevier Ireland Ltd",
    issn = "0021-9150",
    doi = "10.1016/j.atherosclerosis.2019.11.012",
    keywords = "apolipoprotein B;  ezetimibe;  high density lipoprotein cholesterol;  hydroxymethylglutaryl coenzyme A reductase inhibitor;  lipid;  low density lipoprotein cholesterol;  low density lipoprotein receptor;  proprotein convertase 9;  triacylglycerol;  low density lipoprotein cholesterol, adolescent;  Article;  Austria;  Belgium;  child;  comparative study;  Czech Republic;  familial hypercholesterolemia;  female;  follow up;  Greece;  heterozygote;  human;  lipid level;  major clinical study;  male;  medical record review;  Netherlands;  Norway;  Portugal;  prevalence;  priority journal;  retrospective study;  total cholesterol level;  triacylglycerol level;  United Kingdom;  blood;  Europe;  familial hypercholesterolemia;  genetics;  preschool child, Child;  Child, Preschool;  Cholesterol, LDL;  Europe;  Female;  Heterozygote;  Humans;  Hydroxymethylglutaryl-CoA Reductase Inhibitors;  Hyperlipoproteinemia Type II;  Male;  Retrospective Studies",
    abstract = "Background and aims: For children with heterozygous familial hypercholesterolaemia (HeFH), European guidelines recommend consideration of statin therapy by age 8–10 years for those with a low density lipoprotein cholesterol (LDL-C) >3.5 mmol/l, and dietary and lifestyle advice. Here we compare the characteristics and lipid levels in HeFH children from Norway, UK, Netherlands, Belgium, Czech Republic, Austria, Portugal and Greece. Methods: Fully-anonymized data were analysed at the London centre. Differences in registration and on treatment characteristics were compared by standard statistical tests. Results: Data was obtained from 3064 children. The median age at diagnosis differed significantly between countries (range 3–11 years) reflecting differences in diagnostic strategies. Mean (SD) LDL-C at diagnosis was 5.70 (±1.4) mmol/l, with 88% having LDL-C>4.0 mmol/l. The proportion of children older than 10 years at follow-up who were receiving statins varied significantly (99% in Greece, 56% in UK), as did the proportion taking Ezetimibe (0% in UK, 78% in Greece). Overall, treatment reduced LDL-C by between 28 and 57%, however, in those >10 years, 23% of on-treatment children still had LDL-C>3.5 mmol/l and 66% of those not on a statin had LDL-C>3.5 mmol/l. Conclusions: The age of HeFH diagnosis in children varies significantly across 8 countries, as does the proportion of those >10 years being treated with statin and/or ezetimibe. Approximately a quarter of the treated children and almost three quarters of the untreated children older than 10 years still have LDL-C concentrations over 3.5 mmol/l. These data suggest that many children with FH are not receiving the full potential benefit of early identification and appropriate lipid-lowering treatment according to recommendations. © 2019 The Authors"
}