Department of Molecular Medicine (Drs Stefanutti, Zeppa), Lipid Clinic and Atherosclerosis Prevention Centre, 'Umberto I' Hospital - 'Sapienza' University of Rome, Rome, Italy.
Medical School (Drs Chan, Watts), University of Western Australia, Perth, Australia.
J Clin Lipidol. 2024 Sep-Oct;18(5):e817-e824. doi: 10.1016/j.jacl.2024.05.006. Epub 2024 May 31.
Evinacumab is an inhibitor of angiopoietin-like 3 protein (ANGPTL3) that offers a new approach for correcting high low-density lipoprotein-cholesterol (LDL-C) and may reduce the need or frequency for lipoprotein apheresis (LA) in patients with homozygous familial hypercholesterolemia (HoFH).
We aimed to investigate the long-term efficacy and safety of evinacumab in patients with HoFH aged between 14 and 63 years on and off LA in real-world clinical practice.
Evinacumab was administrated intravenously (15 mg /kg every 4 weeks) for the first 24 months in 7 patients with genetically confirmed HoFH, receiving best standard of lipid-lowering treatment and LA, followed by a subsequent compassionate extension period of approximately 12-month treatment with evinacumab without LA. Patient experience of evinacumab and health-related EuroQol (EQ-5D-3L) quality of life questionnaire were also assessed.
Compared with baseline, evinacumab resulted in sustained reductions in plasma LDL-C concentration of -43.4% and -54.2% at 30 and 36 months, respectively. All 7 HoFH patients achieved an LDL-C reduction >30% with 3 patients having on-treatment LDL-C level < 2.5 mmol/L (96 mg/dL). Evinacumab was well-tolerated, with no major adverse events reported or significant changes in liver enzyme concentrations. All FH patients agreed that evinacumab was acceptable and less physically demanding than LA. The mean EQ- utility score and visual analogue score were 0.966 and 78.6, respectively, which are comparable to the Italian general population.
Our findings suggest that evinacumab is a safe and effective treatment for high LDL-C that is acceptable to HoFH patients receiving and not receiving LA.
依维莫司是一种血管生成素样蛋白 3 抑制剂（ANGPTL3），为纠正高低密度脂蛋白胆固醇（LDL-C）提供了一种新方法，并且可能减少脂蛋白吸附（LA）在纯合家族性高胆固醇血症（HoFH）患者中的需求或频率。
我们旨在研究依维莫司在接受和不接受 LA 的现实临床实践中 14 至 63 岁 HoFH 患者中的长期疗效和安全性。
7 名遗传性 HoFH 患者在接受最佳标准降脂治疗和 LA 的同时，静脉内给予依维莫司（15 mg / kg，每 4 周一次），前 24 个月，随后在大约 12 个月的时间内，在没有 LA 的情况下进行后续的同情性扩展治疗。还评估了患者对依维莫司的体验和健康相关的 EuroQol（EQ-5D-3L）生活质量问卷。
与基线相比，依维莫司分别在 30 个月和 36 个月时使血浆 LDL-C 浓度持续降低 43.4%和 54.2%。7 名 HoFH 患者均达到 LDL-C 降低 > 30%，其中 3 名患者的 LDL-C 水平<2.5 mmol/L（96 mg/dL）。依维莫司耐受良好，未报告重大不良事件或肝酶浓度的显著变化。所有 FH 患者均认为依维莫司可接受，且比 LA 要求的身体负担小。平均 EQ-效用评分和视觉模拟评分分别为 0.966 和 78.6，与意大利普通人群相当。
我们的研究结果表明，依维莫司是一种安全有效的治疗高 LDL-C 的方法，对于接受和不接受 LA 的 HoFH 患者均是可接受的。
