A contemporary snapshot of familial hypercholesterolemia registries.

IF 3.8 3区 医学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY Current opinion in lipidology Pub Date : 2024-12-01 Epub Date: 2024-10-07 DOI:10.1097/MOL.0000000000000958
Seyed Saeed Tamehri Zadeh, Jing Pang, Dick C Chan, Gerald F Watts
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Abstract

Purpose of review: Familial hypercholesterolemia (FH) registries can capture unique data on FH concerning real-world practice, clinic epidemiology, natural history, cascade testing, cardiovascular consequences of late diagnosis, and use of healthcare resources. Such registries are also valuable for identifying and bridging the gaps between guidelines and clinical practice. We reviewed recent findings from the principal FH registries.

Recent findings: Most adult patients with heterozygous FH (HeFH) are diagnosed late, undertreated, and do not reach guideline-recommended low density lipoprotein-cholesterol (LDL-C) goals. In children and adolescents with HeFH, detection relies principally on genetic testing and measurement of LDL-C levels. Similarly, the majority of patients with homozygous FH (HoFH) receive sub-optimal cholesterol-lowering treatments and do not attain recommended LDL-C goals, gaps being wider in lower income than higher income countries. In HeFH patients, men have a higher risk of atherosclerotic cardiovascular disease than women.

Summary: The evolving data from FH registries provide real-world evidence for developing implementation strategies to address gaps across the continuum of care of FH worldwide.

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家族性高胆固醇血症登记的现代快照。
综述目的:家族性高胆固醇血症(FH)登记可收集有关 FH 的独特数据,这些数据涉及真实世界的实践、临床流行病学、自然史、级联检测、晚期诊断的心血管后果以及医疗资源的使用。此类登记对于确定和弥合指南与临床实践之间的差距也很有价值。我们回顾了主要 FH 登记处的最新研究结果:大多数成人杂合子高血脂(HeFH)患者诊断较晚、治疗不足,而且达不到指南推荐的低密度脂蛋白胆固醇(LDL-C)目标。对于患有 HeFH 的儿童和青少年,检测主要依靠基因检测和低密度脂蛋白胆固醇水平的测量。同样,大多数同型高胆固醇血症(HoFH)患者接受的降胆固醇治疗效果不理想,无法达到建议的低密度脂蛋白胆固醇(LDL-C)目标,低收入国家的差距大于高收入国家。在 HeFH 患者中,男性罹患动脉粥样硬化性心血管疾病的风险高于女性。摘要:FH 登记处不断变化的数据为制定实施策略提供了真实的证据,以解决全球 FH 持续治疗过程中存在的差距。
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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.
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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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