家族性高胆固醇血症的普遍筛查:如何最大限度地提高儿童及其家庭的受益程度,并最大限度地降低潜在危害。

IF 3.8 3区 医学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY Current opinion in lipidology Pub Date : 2024-12-01 Epub Date: 2024-10-04 DOI:10.1097/MOL.0000000000000952
Uma Ramaswami, Lorraine Priestley-Barnham, Steve E Humphries
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引用次数: 0

摘要

审查目的:识别家族性高胆固醇血症(FH)患者的普遍筛查计划是近期备受关注的主题。然而,任何筛查计划在带来潜在益处的同时也可能造成危害。在此,我们回顾了近期采用不同年龄和策略识别家族性高胆固醇血症患者的论文,并研究了这些论文在多大程度上提供了定量或定性的证据,证明其对儿童和成人有益或有害:过去两年中发表了三项研究,分别在婴儿期、常规疫苗接种时或学龄前进行了FH普遍筛查。小结:虽然我们完全支持 "FH 普遍筛查 "这一概念,它在所有不同年龄段似乎都是可行的,并具有潜在的临床实用性,但几乎没有数据可以证明其潜在的益处或如何减轻其潜在的危害。未来的研究方案应包括收集此类数据,以加强推广普遍筛查计划的理由。
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Universal screening for familial hypercholesterolaemia: how can we maximise benefits and minimise potential harm for children and their families?

Purpose of review: Universal Screening programmes to identify subjects with familial hypercholesterolaemia (FH) have been the subject of much recent interest. However, any screening programme can cause harm as well as having potential benefits. Here we review recent papers using different ages and strategies to identify subjects with FH, and examine to what extent the publications provide quantitative or qualitative evidence of benefit or harm to children and adults.

Recent findings: Three studies have been published over the last 2 years where Universal Screening for FH has been carried out in infancy, at the time of routine vaccinations, or at preschool age. Next-generation sequencing of all known FH-causing genes has been used to determine the proportion of screened individuals, who have total or low-density lipoprotein cholesterol (LDL-C) concentrations above a predetermined threshold (such as >95th percentile), with genetically confirmed FH.

Summary: While we fully support the concept of Universal Screening for FH, which appears feasible and of potential clinical utility at all of the different ages examined, there is little data to document potential benefit or how to mitigate potential harms. Future study protocols should include collection of such data to strengthen the case of roll out of Universal Screening programmes.

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来源期刊
Current opinion in lipidology
Current opinion in lipidology 医学-内分泌学与代谢
CiteScore
6.70
自引率
4.50%
发文量
64
审稿时长
6-12 weeks
期刊介绍: With its easy-to-digest reviews on important advances in world literature, Current Opinion in Lipidology offers expert evaluation on a wide range of topics from six key disciplines including nutrition and metabolism, genetics and molecular biology, and hyperlipidaemia and cardiovascular disease. Published bimonthly, each issue covers in detail the most pertinent advances in these fields from the previous year. This is supplemented by a section of Bimonthly Updates, which deliver an insight into new developments at the cutting edge of the disciplines covered in the journal.
期刊最新文献
Are the lipid-lowering effects of incretin-based therapies relevant for cardiovascular benefit? From clinical development to real-world outcomes with inclisiran. Oral agents for lowering lipoprotein(a). Universal screening for familial hypercholesterolaemia: how can we maximise benefits and minimise potential harm for children and their families? A contemporary snapshot of familial hypercholesterolemia registries.
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