Familial hypercholesterolemia (FH) is an inherited disorder of lipid metabolism characterized by significant elevation of low-density lipoprotein cholesterol, increasing the risk of atherosclerotic cardiovascular disease and causing serious consequences for FH patients and the whole society. The development of molecular biotechnology is crucial for screening, diagnosing, and treating patients with FH. This paper systematically summarizes how the development of genetic testing technologies, particularly next-generation sequencing, has improved the accuracy of diagnosis and efficiency of genetic screening for FH, while also introducing many variations of unknown significance. In contrast to pharmacotherapy, transgenic technology and gene editing technology offer the potential to rectify the molecular aberration within the patient's physiological system, holding promise for eradicating FH at the molecular level. However, preliminary results have shown that patients could suffer from side-effects, such as liver damage, and long-term follow-up is needed to clarify the efficacy of these technologies. Therefore, this article reviews the latest advances in molecular biotechnology, including genetic testing technology and gene therapy technology, in the diagnosis and treatment of FH, aiming to provide new perspectives for FH related research.

家族性高胆固醇血症是一种遗传性脂质代谢疾病，其主要特征是患者低密度脂蛋白胆固醇明显升高，进而增加罹患动脉粥样硬化性心血管疾病的风险，对个体、家庭和社会带来严重影响。分子生物技术的发展对家族性高胆固醇血症患者筛查、诊断和治疗均至关重要。本文系统总结了基因检测技术，特别是第二代基因检测技术的发展提高了家族性高胆固醇血症筛查的效率和诊断的准确性，但同时也引入了许多意义不明的突变。与药物治疗不同，转基因技术或基因编辑技术可纠正家族性高胆固醇血症患者体内的分子缺陷，有望在分子层面根治此病。但相关临床研究结果显示这些治疗方式存在肝损伤等不良反应，并且仍需长期随访明确其疗效。因此，本文综述了基因检测和基因治疗等分子生物技术在家族性高胆固醇血症诊疗中的最新进展，旨在为后续该病的诊断和治疗相关研究提供新的视角。