Myśliwiec Małgorzata, Bandura Marta, Wołoszyn-Durkiewicz Anna, Hennig Matylda, Walczak Mieczysław, Peregud-Pogorzelski Jarosław, Sykut-Cegielska Jolanta, Miszczak-Knecht Maria, Chlebus Krzysztof, Wasąg Bartosz, Zmysłowska Agnieszka, Banach Maciej
Department of Pediatrics, Diabetology and Endocrinology, Medical University of Gdansk, Poland.
Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
Arch Med Sci. 2024 Nov 22;20(6):1741-1753. doi: 10.5114/aoms/196329. eCollection 2024.
Familial hypercholesterolemia (FH) is the most common monogenic disease leading to the accelerated development of atherosclerotic cardiovascular disease (ASCVD). Despite increasing medical knowledge, diagnostic testing, and a growing number of therapeutic options, the effectiveness of detecting and treating FH remains highly insufficient. Only early detection (as early as possible) and optimal treatment in pediatric patients will lead to a significant reduction in morbidity and mortality from atherosclerotic cardiovascular disease (ASCVD) in later years. We present the guidelines for the management of FH in children and adolescents in Poland. This document is an update of the 2014 Position Paper of the Lipid Expert Forum.
家族性高胆固醇血症（FH）是导致动脉粥样硬化性心血管疾病（ASCVD）加速发展的最常见单基因疾病。尽管医学知识不断增加、诊断检测手段不断丰富，以及治疗选择越来越多，但FH的检测和治疗效果仍然非常不理想。只有在儿科患者中尽早发现（越早越好）并进行最佳治疗，才能在晚年显著降低动脉粥样硬化性心血管疾病（ASCVD）的发病率和死亡率。我们在此介绍波兰儿童和青少年FH管理指南。本文档是脂质专家论坛2014年立场文件的更新版。
