Family hypercholesterolemia (FH) is a common genetic metabolic disease, characterized by an abnormal increase in low-density lipoprotein cholesterol (LDL-C), which may manifest as corneal arcus and xanthomas. Long-term high levels of LDL-C can increase the risk of atherosclerotic cardiovascular disease (ASCVD). FH patients have a higher risk of early-onset ASCVD, with homozygous FH being more severe. Global prevalence of FH has gradually gained attention, but diagnosis and treatment still face challenges. Leveraging the release of the 2023 Chinese Lipid Management Guidelines, this article primarily compares domestic and foreign screening and diagnostic approaches to emphasize the importance of screening for lipid profiles and recommend early identification of FH patients. Additionally, genetic testing is also recommended, including not only a few key genes but also other related genes or whole-genome detection. Furthermore, this article compares different guidelines on LDL-C control management levels and ASCVD risk factors for different LDL-C subgroups. It highlights the differences in dietary recommendations, lifestyle advice, and medication control between domestic and foreign guidelines, pointing out that statins are the primary cholesterol-lowering agents universally recognized as important, with combination therapy being particularly crucial. However, for patients who failed to achieve LDL-C control after maximally tolerated therapy, international lipid management guidelines have made updates. Meanwhile, for Homozygous familial hypercholesterolemia (HoFH) patients, high-intensity statin combination therapy with other medications is the preferred approach, and early treatment is crucial; timely consideration of lipoprotein apheresis and Recombinant proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors can help reduce the incidence and mortality rate of ASCVD.

家族性高胆固醇血症（FH）是一种常见的遗传代谢性疾病，主要特征是低密度脂蛋白胆固醇（LDL-C）异常升高，可表现为角膜弓、黄色瘤等症状。长期高水平的LDL-C会增加动脉粥样硬化性心血管疾病（ASCVD）的风险。FH患者早发ASCVD的风险较高，纯合型的FH病情更为严重。全球FH的流行率逐渐受到重视，但诊断和治疗仍存在不足。借着《2023年中国血脂管理指南》的发布，本文主要比较了国内外关于FH筛查、诊断的不同，用于强调筛查血脂情况的重要性，并建议早期识别FH患者。同时，基因检测也被推荐，不仅限于少数基因，还应包含其他相关基因或全基因组检测。此外，本文也比较了不同指南对于FH患者LDL-C控制管理水平的差异，以及对于不同LDL-C划分的ASCVD危险因素新要素；比较了不同指南在饮食、生活方式、药物控制等方面的差别，指出国内外一致认为他汀类药物是主要的降脂药物，联合应用尤为重要，但对于最大剂量后LDL-C控制未达标的患者国际血脂护理指南有一定更新。同时，对于纯合型FH（HoFH）患者，高强度他汀类药物联合其他药物治疗是首选，早期的治疗更为关键，适当提早脂蛋白单采术与前蛋白转换酶枯草溶菌素9（PCSK9）抑制剂的应用有助于降低ASCVD的发病率和死亡率。