Maia Ariana, Fonseca Liliana, Palma Isabel
Serviço de Endocrinologia, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal.
J Pediatr Endocrinol Metab. 2025 May 6. doi: 10.1515/jpem-2025-0127.
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.
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。