Lin Dongni, Lu Yefeng, Qiu Bijun, Feng Mingxuan, Luo Yi, Xue Feng, Zhou Tao, Zhu Jianjun, Zhang Jianjun, Wang Lvya, Xia Qiang, Wan Ping
Department of Liver Surgery, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine, 1630 Dongfang Road, Shanghai, 200127, China.
Beijing Institute of Heart Lung and Blood Vessel Diseases, 2 Anzhen Road, Chaoyang District, Beijing 100029, China; Department of Cardiology, Beijing Anzhen Hospital Affiliated with Capital Medical University, 2 Anzhen Road, Chaoyang District, Beijing 100029, China.
J Clin Lipidol. 2024 Nov-Dec;18(6):e1055-e1066. doi: 10.1016/j.jacl.2024.08.008. Epub 2024 Sep 5.
Homozygous familial hypercholesterolemia (HoFH) is characterized by elevated low-density lipoprotein cholesterol (LDL-C) and early-onset cardiovascular disease. To assess the therapeutic effects of liver transplantation (LT) on HoFH patients, we observed and analyzed the outcomes of HoFH children after LT.
This prospective cohort study included all LT candidates under 18 years old diagnosed with HoFH at Ren Ji Hospital between November 2017 and July 2021. The patients were followed until October 2023. They were treated according to the standard protocol at our center. We collected data on changes in lipid profiles, clinical manifestations, and cardiovascular complications at different time points, and recorded postoperative recipient and graft survival.
Fourteen HoFH patients with a median age of 7 (2-12) years were included. Preoperatively, xanthomas and arcus corneas occurred in 14 and 3 patients, respectively, with 10 patients showing mild cardiovascular disease. All patients underwent LT. Recipient and graft survival rates were 100% over a median follow-up duration of 35 (27-71) months. Median LDL-C levels dropped from 11.83 (7.99-26.14) mmol/L preoperatively to 2.3 (1.49-3.39) mmol/L postoperative at the last measurement. Thirteen patients discontinued lipid-lowering treatment after LT, while only one patient resumed statins 6 months post-operation. Xanthomas and arcus corneas significantly improved. Cardiovascular complications regressed in five patients, with no progression observed in the others.
LT is a safe and effective treatment for severe HoFH patients beyond lipid-lowering control. Early LT improves prognosis and quality of life while minimizing the risk of cardiovascular complications.
纯合子家族性高胆固醇血症（HoFH）的特征是低密度脂蛋白胆固醇（LDL-C）升高和早发性心血管疾病。为评估肝移植（LT）对HoFH患者的治疗效果，我们观察并分析了HoFH儿童肝移植后的结局。
这项前瞻性队列研究纳入了2017年11月至2021年7月期间在仁济医院诊断为HoFH的所有18岁以下肝移植候选者。对患者进行随访至2023年10月。他们在我们中心按照标准方案接受治疗。我们收集了不同时间点血脂谱变化、临床表现和心血管并发症的数据，并记录了术后受者和移植物的存活情况。
纳入了14例HoFH患者，中位年龄为7（2 - 12）岁。术前，14例患者出现黄色瘤，3例出现角膜弓，10例有轻度心血管疾病。所有患者均接受了肝移植。在中位随访期35（27 - 71）个月内，受者和移植物存活率均为100%。最后一次测量时，LDL-C中位数水平从术前的11.83（7.99 - 26.14）mmol/L降至术后的2.3（1.49 - 3.39）mmol/L。13例患者肝移植后停止降脂治疗，只有1例患者术后6个月恢复使用他汀类药物。黄色瘤和角膜弓明显改善。5例患者的心血管并发症有所缓解，其他患者未观察到病情进展。
肝移植对于降脂治疗无法控制的重度HoFH患者是一种安全有效的治疗方法。早期肝移植可改善预后和生活质量，同时将心血管并发症风险降至最低。
