FUTEMA, M., U. RAMASWAMI, Lukas TICHY, M. P. BOGSRUD, K. B. HOLVEN, J. R. VAN LENNEP, A. WIEGMAN, OS DESCAMPS, A. DE LEENER, E. FASTRE, Michal VRABLIK, Tomáš FREIBERGER, H. ESTERBAUER, H. DIEPLINGER, S. GREBER-PLATZER, A. M. MEDEIROS, M. BOURBON, V. MOLLAKI, E. DROGARI and S. E. HUMPHRIES. Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries. Atherosclerosis. Clare: ELSEVIER SCI IRELAND LTD, 2021, vol. 319, FEB 2021, p. 108-117. ISSN 0021-9150. Available from: https://dx.doi.org/10.1016/j.atherosclerosis.2021.01.008.
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Basic information
Original name Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
Authors FUTEMA, M., U. RAMASWAMI, Lukas TICHY (203 Czech Republic), M. P. BOGSRUD, K. B. HOLVEN, J. R. VAN LENNEP, A. WIEGMAN, OS DESCAMPS, A. DE LEENER, E. FASTRE, Michal VRABLIK (203 Czech Republic), Tomáš FREIBERGER (203 Czech Republic, belonging to the institution), H. ESTERBAUER, H. DIEPLINGER, S. GREBER-PLATZER, A. M. MEDEIROS, M. BOURBON, V. MOLLAKI, E. DROGARI and S. E. HUMPHRIES (guarantor).
Edition Atherosclerosis, Clare, ELSEVIER SCI IRELAND LTD, 2021, 0021-9150.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30201 Cardiac and Cardiovascular systems
Country of publisher Ireland
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 6.847
RIV identification code RIV/00216224:14110/21:00121357
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1016/j.atherosclerosis.2021.01.008
UT WoS 000617764400004
Keywords in English Heterozygous familial hypercholesterolaemia; Mutation spectrum; LDL-C concentrations; Statin treatment
Tags 14110114, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 7/4/2021 10:58.
Abstract
Background and aims: Familial hypercholesterolaemia (FH) is commonly caused by mutations in the LDLR, APOB or PCSK9 genes, with untreated mean low density lipoprotein-cholesterol (LDL-C) concentrations being elevated in APOB mutation carriers, even higher in LDLR mutation and highest in those with a PCSK9 mutation. Here we examine this in children with FH from Norway, UK, The Netherlands, Belgium, Czech Republic, Austria, Portugal and Greece. Methods: Differences in characteristics and preand post-treatment lipid concentrations in those with different molecular causes were compared by standard statistical tests. Results: Data were obtained from 2866 children, of whom 2531 (88%) carried a reported LDLR/APOB/PCSK9 variant. In all countries, the most common cause of FH was an LDLR mutation (79% of children, 297 different), but the prevalence of the APOB p.(Arg3527Gln) mutation varied significantly (ranging from 0% in Greece to 39% in Czech Republic, p < 2.2 x 10(-16)). The prevalence of a family history of premature CHD was significantly higher in children with an LDLR vs APOB mutation (16% vs 7% p=0.0005). Compared to the LDLR mutation group, mean (+/- SD) concentrations of pre-treatment LDL-C were significantly lower in those with an APOB mutation (n = 2260 vs n = 264, 4.96 (1.08)mmol/l vs 5.88 (1.41)mmol/l, p < 2.2 x 10(-16)) and lowest in those with a PCSK9 mutation (n = 7, 4.71 (1.22)mmol/l). Conclusions: The most common cause of FH in children from eight European countries was an LDLR mutation, with the prevalence of the APOB p.(Arg3527Gln) mutation varying significantly across countries. In children, LDLR-FH is associated with higher concentrations of LDL-C and family history of CHD compared to those with APOB-FH.
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