ISSN 1662-4009 (online)

ey0018.12-13 | Lipids | ESPEYB18

12.13. 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

M Futema , U Ramaswami , L Tichy , MP Bogsrud , KB Holven , J Roeters van Lennep , A Wiegman , OS Descamps , A De Leener , E Fastre , M Vrablik , T Freiberger , H Esterbauer , H Dieplinger , S Greber-Platzer , AM Medeiros , M Bourbon , V Mollaki , E Drogari , SE Humphries

Atherosclerosis. 2021 Feb;319:108–117. doi: 10.1016/j.atherosclerosis.2021.01.008. PMID: 33508743.In brief: This multi-centre study included 2866 children with familial hypercholesterolemia (FH) from 8 European countries. The mutation spectrum was assessed, as were associations between gene mutations and clinical characteristics and pre and post-treatment lipid ...