Xiang Ze, Li Jia-Rui, Wan Wei-Min, Li Shu-Hui, Wu Jian
School of Medicine, Zhejiang University, Hangzhou 310058, Zhejiang Province, China.
Department of Clinical Laboratory, Suzhou Municipal Hospital, Suzhou 215008, Jiangsu Province, China.
World J Exp Med. 2024 Dec 20;14(4):99968. doi: 10.5493/wjem.v14.i4.99968.
Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein cholesterol levels due to genetic mutations, presenting with xanthomas, corneal arch, and severe cardiovascular diseases. Early identification, diagnosis, and treatment are crucial to prevent severe complications like acute myocardial infarction. Statins are the primary treatment, supplemented by Ezetimibe and proprotein convertase subtilisin/kexin type 9 inhibitors, though their effectiveness can be limited in severe cases. Over 90% of FH cases remain undiagnosed, and current treatments are often inadequate, underscoring the need for improved diagnostic and management systems. Future strategies include advancements in gene testing, precision medicine, and novel drugs, along with gene therapy approaches like AAV-mediated gene therapy and clustered regularly interspaced short palindromic repeats. Lifestyle modifications, including health education, dietary control, and regular exercise, are essential for managing FH and preventing related diseases. Research into FH-related gene mutations, especially , is critical for accurate diagnosis and effective treatment.
家族性高胆固醇血症（FH）的特征是由于基因突变导致低密度脂蛋白胆固醇水平升高，表现为黄色瘤、角膜弓和严重的心血管疾病。早期识别、诊断和治疗对于预防急性心肌梗死等严重并发症至关重要。他汀类药物是主要治疗方法，依折麦布和前蛋白转化酶枯草溶菌素/kexin 9型抑制剂为辅，不过在严重病例中其疗效可能有限。超过90%的FH病例仍未被诊断出来，且目前的治疗往往不足，这凸显了改进诊断和管理系统的必要性。未来的策略包括基因检测、精准医学和新型药物的进展，以及腺相关病毒介导的基因治疗和规律成簇间隔短回文重复序列等基因治疗方法。生活方式的改变，包括健康教育、饮食控制和定期锻炼，对于管理FH和预防相关疾病至关重要。对FH相关基因突变的研究，尤其是，对于准确诊断和有效治疗至关重要。
