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

RAMASWAMI, U., M. FUTEMA, M. P. BOGSRUD, K. B. HOLVEN, J. R. VAN LENNEP, A. WIEGMAN, O. S. DESCAMPS, M. VRABLIK, Tomáš FREIBERGER, H. DIEPLINGER, S. GREBER-PLATZER, G. HANAUER-MADER, M. BOURBON, E. DROGARI a S. E. HUMPHRIES. Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries. Atherosclerosis. Clare: ELSEVIER SCI IRELAND LTD, 2020, roč. 292, JAN 2020, s. 178-187. ISSN 0021-9150. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2019.11.012.

Základní údaje

• Originální název: Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
• Autoři: RAMASWAMI, U. (826 Velká Británie a Severní Irsko), M. FUTEMA (826 Velká Británie a Severní Irsko), M. P. BOGSRUD (578 Norsko), K. B. HOLVEN (578 Norsko), J. R. VAN LENNEP (528 Nizozemské království), A. WIEGMAN (528 Nizozemské království), O. S. DESCAMPS (56 Belgie), M. VRABLIK (203 Česká republika), Tomáš FREIBERGER (203 Česká republika, domácí), H. DIEPLINGER (40 Rakousko), S. GREBER-PLATZER (40 Rakousko), G. HANAUER-MADER (40 Rakousko), M. BOURBON (620 Portugalsko), E. DROGARI (300 Řecko) a S. E. HUMPHRIES (826 Velká Británie a Severní Irsko, garant).
• Vydání: Atherosclerosis, Clare, ELSEVIER SCI IRELAND LTD, 2020, 0021-9150.

Další údaje

• Originální jazyk: angličtina
• Typ výsledku: Článek v odborném periodiku
• Obor: 30201 Cardiac and Cardiovascular systems
• Stát vydavatele: Irsko
• Utajení: není předmětem státního či obchodního tajemství
• WWW: URL
• Impakt faktor: Impact factor: 5.162
• Kód RIV: RIV/00216224:14110/20:00115978
• Organizační jednotka: Lékařská fakulta
• Doi: http://dx.doi.org/10.1016/j.atherosclerosis.2019.11.012
• UT WoS: 000503400300024
• Klíčová slova anglicky: Heterozygous familial hypercholesterolaemia; Paediatric FH; LDL-C concentrations; Statin treatment
• Štítky: 14110114, rivok
• Příznaky: Mezinárodní význam, Recenzováno

Anotace

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.