TY - JOUR
TI - Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
AU - Ramaswami, U.
AU - Futema, M.
AU - Bogsrud, M.P.
AU - Holven, K.B.
AU - Roeters van Lennep, J.
AU - Wiegman, A.
AU - Descamps, O.S.
AU - Vrablik, M.
AU - Freiberger, T.
AU - Dieplinger, H.
AU - Greber-Platzer, S.
AU - Hanauer-Mader, G.
AU - Bourbon, M.
AU - Drogari, E.
AU - Humphries, S.E.
JO - Atherosclerosis
PY - 2020
VL - 292
TODO - null
SP - 178-187
PB - Elsevier Ireland Ltd
SN - 0021-9150
TODO - 10.1016/j.atherosclerosis.2019.11.012
TODO - 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
TODO - 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
ER -