A 28-year-old woman with a rare combination of homozygous LDLR and heterozygous PCSK9 mutations had a phenotype consistent with homozygous familial hypercholesterolemia. She reported a clinical history of coronary and extracoronary atherosclerosis treated with 3 coronary stenting procedures, one coronary bypass, and aortic and mitral valve replacements. Because the patient refused lipoprotein apheresis, lipid-lowering therapy with statins, ezetimibe, and evolocumab was started. The desired low-density lipoprotein cholesterol target was not achieved. Dose-escalated lomitapide therapy (up to 30 mg/d) was added, enabling achievement of low-density lipoprotein cholesterol levels of 45 mg/dL during 24 months' follow-up. During this period, no cardiovascular events or clinical evidence of side effects occurred. In this case, lomitapide has been used in combination with maximum-tolerated statin therapy to successfully treat a patient with a rare combination of mutations in both LDLR and PCSK9 genes.

一名28岁妇女，其纯合LDLR和杂合PCSK9罕见组合突变的表型与纯合子家族性高胆固醇血症一致。她报告了使用3种冠状动脉支架置入术，一种冠状动脉搭桥术以及主动脉和二尖瓣置换术治疗的冠状动脉和冠状动脉外动脉粥样硬化的临床病史。由于患者拒绝脂蛋白单采，因此开始使用他汀类药物，依泽替米贝和依维洛单抗进行降脂治疗。没有达到所需的低密度脂蛋白胆固醇目标。增加了剂量递增的洛米肽治疗（最高30 mg / d），可在24个月的随访期间实现45 mg / dL的低密度脂蛋白胆固醇水平。在此期间，未发生心血管事件或副作用的临床证据。在这种情况下，LDLR和PCSK9基因。