Lin Kevin H, Stone Neil J
Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
JACC Case Rep. 2024 Dec 4;29(23):102712. doi: 10.1016/j.jaccas.2024.102712.
Familial hypercholesterolemia (FH) is an inherited disorder of lipid metabolism that causes marked elevations in low-density lipoprotein cholesterol and is associated with premature atherosclerotic cardiovascular disease. A 71-year-old woman with FH, established atherosclerotic cardiovascular disease, and statin intolerance presents to the cardiology clinic to discuss lipid management. Despite having failed combinations of statins, ezetimibe, and 2 proprotein convertase subtilisin/kexin type 9 inhibitors that use monoclonal antibodies, she was able to achieve low-risk low-density lipoprotein cholesterol levels using a novel way to lower proprotein convertase subtilisin/kexin type 9 levels with inclisiran. Therapeutic persistence is a key trait in the management of FH where multiple changes in treatment are often needed to achieve optimal therapeutic targets.
家族性高胆固醇血症（FH）是一种遗传性脂质代谢紊乱疾病，可导致低密度脂蛋白胆固醇显著升高，并与早发性动脉粥样硬化性心血管疾病相关。一名71岁患有FH、已确诊动脉粥样硬化性心血管疾病且对他汀类药物不耐受的女性前往心脏病诊所讨论血脂管理问题。尽管使用他汀类药物、依折麦布和两种使用单克隆抗体的前蛋白转化酶枯草溶菌素/kexin 9型抑制剂的联合治疗均告失败，但她通过使用inclisiran降低前蛋白转化酶枯草溶菌素/kexin 9型水平的新方法，成功实现了低风险的低密度脂蛋白胆固醇水平。治疗依从性是FH管理中的一个关键特征，在FH管理中，通常需要多次改变治疗方案才能达到最佳治疗目标。
