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Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

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RAMASWAMI U. FUTEMA M. BOGSRUD M. P. HOLVEN K. B. VAN LENNEP J. R. WIEGMAN A. DESCAMPS O. S. VRABLIK M. FREIBERGER Tomáš DIEPLINGER H. GREBER-PLATZER S. HANAUER-MADER G. BOURBON M. DROGARI E. HUMPHRIES S. E.

Rok publikování 2020
Druh Článek v odborném periodiku
Časopis / Zdroj Atherosclerosis
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www https://www.atherosclerosis-journal.com/article/S0021-9150(19)31569-2/pdf
Doi http://dx.doi.org/10.1016/j.atherosclerosis.2019.11.012
Klíčová slova Heterozygous familial hypercholesterolaemia; Paediatric FH; LDL-C concentrations; Statin treatment
Popis 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.

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