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家族性高胆固醇血症患者从儿童期/青少年期到成年期的护理过渡

Transition of care from childhood/adolescence to adulthood in familial hypercholesterolemia.

作者信息

Maia Ariana, Fonseca Liliana, Palma Isabel

机构信息

Serviço de Endocrinologia, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal.

出版信息

J Pediatr Endocrinol Metab. 2025 May 6. doi: 10.1515/jpem-2025-0127.

DOI:10.1515/jpem-2025-0127
PMID:40319506
Abstract

Familial hypercholesterolemia (FH) is a common genetic disorder with a co-dominant inheritance pattern, characterized by persistently elevated levels of atherogenic low-density lipoprotein cholesterol (LDL-C) and a significantly increased risk of premature atherosclerotic cardiovascular disease. Given that the cardiovascular risk associated with elevated LDL-C begins in early childhood and progresses over time, early identification and long-term management are crucial. Implementing effective screening programs, genetic testing, and timely initiation of lipid-lowering therapy are essential strategies to mitigate future coronary events, improve quality of life, and reduce morbidity and mortality. This document outlines strategies and recommendations to improve early detection, genetic screening, and holistic management of individuals affected by FH, with particular emphasis on facilitating a structured transition from pediatric to adult healthcare services to ensure continuity of care and sustained treatment adherence.

摘要

家族性高胆固醇血症(FH)是一种常见的遗传性疾病,具有共显性遗传模式,其特征是致动脉粥样硬化的低密度脂蛋白胆固醇(LDL-C)水平持续升高,以及过早发生动脉粥样硬化性心血管疾病的风险显著增加。鉴于与LDL-C升高相关的心血管风险始于儿童早期并随时间进展,早期识别和长期管理至关重要。实施有效的筛查计划、基因检测以及及时启动降脂治疗是减轻未来冠心病事件、改善生活质量以及降低发病率和死亡率的重要策略。本文概述了改善FH患者早期检测、基因筛查和整体管理的策略及建议,特别强调促进从儿科到成人医疗服务的结构化过渡,以确保医疗连续性和持续的治疗依从性。

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Algorithms for Treating Dyslipidemia in Youth.青少年血脂异常治疗的算法。
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Update on Statin Use in Pregnancy.孕期他汀类药物使用的最新情况。
Am J Med. 2023 Jan;136(1):12-14. doi: 10.1016/j.amjmed.2022.08.029. Epub 2022 Sep 21.
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2022 ACC Expert Consensus Decision Pathway on the Role of Nonstatin Therapies for LDL-Cholesterol Lowering in the Management of Atherosclerotic Cardiovascular Disease Risk: A Report of the American College of Cardiology Solution Set Oversight Committee.2022年美国心脏病学会解决方案集监督委员会关于非他汀类疗法在降低低密度脂蛋白胆固醇以管理动脉粥样硬化性心血管疾病风险中的作用的专家共识决策路径报告。
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Reduction of cardiovascular events with the use of lipid-lowering medication in patients with familial hypercholesterolemia or severe primary hypercholesterolemia: A systematic review.降脂药物在家族性高胆固醇血症或严重原发性高胆固醇血症患者中降低心血管事件的效果:系统评价。
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Association Between Cumulative Low-Density Lipoprotein Cholesterol Exposure During Young Adulthood and Middle Age and Risk of Cardiovascular Events.青年期和中年时期累积低密度脂蛋白胆固醇暴露与心血管事件风险的关系。
JAMA Cardiol. 2021 Dec 1;6(12):1406-1413. doi: 10.1001/jamacardio.2021.3508.
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Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.澳大利亚强化家族性高胆固醇血症治疗的综合指导建议
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