Familial hypercholesterolemia in children and the importance of early treatment.

IF 3.8 3区医学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY Current opinion in lipidology Pub Date : 2024-06-01 Epub Date: 2024-02-14 DOI:10.1097/MOL.0000000000000926

Sibbeliene E van den Bosch, Barbara A Hutten, Willemijn E Corpeleijn, D Meeike Kusters

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Abstract

Purpose of review: Familial hypercholesterolemia leads to elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth onwards due to a pathogenetic variation in genes in cholesterol metabolism. Early screening to identify and subsequently treat children with familial hypercholesterolemia is crucial to reduce the risk of premature atherosclerotic cardiovascular disease (ASCVD). This review focuses on recent insights in the field of pediatric familial hypercholesterolemia.

Recent findings: Screening in childhood and early initiation of optimal lipid-lowering therapy (LLT) have shown promising outcomes in the prevention of ASCVD. In addition, cost-effectiveness research has demonstrated highly favorable results. With the availability of novel therapies, familial hypercholesterolemia has become a well treatable disease.

Summary: Children with familial hypercholesterolemia benefit from early detection and optimal treatment of their elevated LDL-C levels.

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儿童家族性高胆固醇血症和早期治疗的重要性。

综述目的：由于胆固醇代谢基因的致病变异，家族性高胆固醇血症会导致低密度脂蛋白胆固醇（LDL-C）水平从出生起就升高。早期筛查发现并治疗家族性高胆固醇血症患儿对于降低过早发生动脉粥样硬化性心血管疾病（ASCVD）的风险至关重要。本综述将重点介绍小儿家族性高胆固醇血症领域的最新研究成果：儿童期筛查和早期启动最佳降脂治疗（LLT）在预防 ASCVD 方面取得了可喜的成果。此外，成本效益研究也显示了非常有利的结果。随着新型疗法的出现，家族性高胆固醇血症已成为一种可以很好治疗的疾病。小结：家族性高胆固醇血症患儿的低密度脂蛋白胆固醇（LDL-C）水平升高，可从早期发现和最佳治疗中获益。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current opinion in lipidology 医学-内分泌学与代谢

CiteScore

6.70

自引率

4.50%

发文量

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.