Abstract：
Familial hypercholesterolemia (FH) is the most common monogenic disorder. Due to the marked elevation of cardiovascular risk, the early detection, diagnosis, and proper management of this disorder are critical. Herein, the 2022 Korean guidance on this disease is presented. Clinical features include severely elevated low-density lipoprotein cholesterol (LDL-C) levels, tendon xanthomas, and premature coronary artery disease. Clinical diagnostic criteria include clinical findings, family history, or pathogenic mutations in the LDLR, APOB, or PCSK9. Proper suspicion of individuals with typical characteristics is essential for screening. Cascade screening is known to be the most efficient diagnostic approach. Early initiation of lipid-lowering therapy and the control of other risk factors are important. The first-line pharmacological treatment is statins, followed by ezetimibe, and PCSK9 inhibitors as required. The ideal treatment targets are 50% reduction and < 70 or < 55 mg/dL (in the presence of vascular disease) of LDL-C, although less strict targets are frequently used. Homozygous FH is characterized by untreated LDL-C > 500 mg/dL, xanthoma since childhood, and family history. In children, the diagnosis is made with criteria, including items largely similar to those of adults. In women, lipid-lowering agents need to be discontinued before conception.
摘要：
家族性高胆固醇血症（FH）是最常见的单基因疾病。由于心血管风险显著升高,早期检测，诊断,对这种疾病的正确管理至关重要。在这里，提出了2022年韩国关于这种疾病的指南。临床特征包括低密度脂蛋白胆固醇（LDL-C）水平严重升高，肌腱黄色瘤，和过早的冠状动脉疾病。临床诊断标准包括临床发现，家族史,或LDLR中的致病性突变，APOB,或PCSK9。正确怀疑具有典型特征的个体对于筛查至关重要。众所周知，级联筛查是最有效的诊断方法。早期开始降脂治疗和控制其他危险因素很重要。一线药物治疗是他汀类药物，紧随其后的是ezetimibe,和所需的PCSK9抑制剂。理想的治疗目标是降低50％，LDL-C<70或<55mg/dL（在存在血管疾病的情况下），虽然不太严格的目标经常使用。纯合FH的特征在于未处理的LDL-C>500mg/dL,黄瘤从小,和家族史。在儿童中，诊断是有标准的，包括与成年人基本相似的物品。在女性中，受孕前需要停用降脂药.
