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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;319:108117. 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 ...

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ey0020.10-11 | Dyslipidemia | ESPEYB20

10.11. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance

M Cuchel , FJ Raal , RA Hegele , K Al-Rasadi , M Arca , M Averna , E Bruckert , T Freiberger , D Gaudet , M Harada-Shiba , LC Hudgins , M Kayikcioglu , L Masana , KG Parhofer , JE Roeters van Lennep , RD Santos , ESG Stroes , GF Watts , A Wiegman , JK Stock , LS Tokgozoğlu , AL Catapano , KK Ray

Brief summary: In May 2023, the European Atherosclerosis Society (EAS) released an update to its 2014 consensus on homozygous familial hypercholesterolemia (HoFH). The 2023 statement provides updated diagnostic criteria, screening recommendations, treatment algorithms, guidance about family planning, and new insights into the genetics of the disease.Comment: Here is a brief summary of the new findings and recommendations of the updated consensus:<p c...

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ESPE Yearbook of Paediatric Endocrinology

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

10.11. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance

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