作者
Børge G Nordestgaard, M John Chapman, Steve E Humphries, Henry N Ginsberg, Luis Masana, Olivier S Descamps, Olov Wiklund, Robert A Hegele, Frederick J Raal, Joep C Defesche, Albert Wiegman, Raul D Santos, Gerald F Watts, Klaus G Parhofer, G Kees Hovingh, Petri T Kovanen, Catherine Boileau, Maurizio Averna, Jan Borén, Eric Bruckert, Alberico L Catapano, Jan Albert Kuivenhoven, Päivi Pajukanta, Kausik Ray, Anton FH Stalenhoef, Erik Stroes, Marja-Riitta Taskinen, Anne Tybjærg-Hansen, European Atherosclerosis Society Consensus Panel
发表日期
2013/12/1
来源
European heart journal
卷号
34
期号
45
页码范围
3478-3490
出版商
Oxford University Press
简介
Aims
The first aim was to critically evaluate the extent to which familial hypercholesterolaemia (FH) is underdiagnosed and undertreated. The second aim was to provide guidance for screening and treatment of FH, in order to prevent coronary heart disease (CHD).
Methods and results
Of the theoretical estimated prevalence of 1/500 for heterozygous FH, <1% are diagnosed in most countries. Recently, direct screening in a Northern European general population diagnosed approximately 1/200 with heterozygous FH. All reported studies document failure to achieve recommended LDL cholesterol targets in a large proportion of individuals with FH, and up to 13-fold increased risk of CHD. Based on prevalences between 1/500 and 1/200, between 14 and 34 million individuals worldwide have FH. We recommend that children, adults, and families should be screened for FH if a …
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