Chen P P, Feng S Q, Tian Z, Zhang S Y
Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China Department of Clinical Nutrition & Health Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Zhonghua Xin Xue Guan Bing Za Zhi. 2023 Mar 24;51(3):270-277. doi: 10.3760/cma.j.cn112148-20221231-01027.
To investigate the impact of orthotopic liver transplantation on serum lipid and growing development in patients with homozygous (HoFH) or compound heterozygotes (cHeFH) familial hypercholesterolemia. Patients who were treated in Peking Union Medical College Hospital from August 2019 to August 2021, entered the rare disease database and underwent liver transplantation, were included in this single center retrospective cohort study. The height for age Z score (HAZ) and length for age Z score (WAZ) at birth, at the time of transplantation and one year after transplantation were calculated respectively by collecting demographic characteristics, clinical manifestations, echocardiography, lipid-lowering treatment, blood lipid level data and donor characteristics data of liver transplantation. The serum cholesterol level and growing development changes before and after liver transplantation were evaluated. A total of five patients with HoFH or cHeFH, including two females, were included in this study. The median age was 10 years (6-22 years). The median follow up duration was 28 months (24-33 months). All HoFH or cHeFH patients in this study received the maximum daily dosage of the lipid-lowering drug combined with low salt and low-fat diet control treatment for at least 3 months before orthotopic liver transplantation. The average level of total cholesterol (TC) decreased by 27% compared with that before treatment, the level of low-density lipoprotein cholesterol (LDL-C) decreased by 21% after 3 months treatment. There was no intervention of lipid-lowering therapy after operation. One month after liver transplantation, the average levels of TC and LDL-C further decreased rapidly by 68% and 76% respectively. One year after liver transplantation, the level of LDL-C decreased from (17.1±1.6)mmol/L without any intervention before transplantation to (3.0±0.7)mmol/L, and remained stable thereafter. In addition, compared with no intervention before liver transplantation, the serum triglyceride (TG) level decreased after the maximum daily dosage of the lipid-lowering drug and low salt and low-fat diet control for 3 months ((1.88±0.27) mmol/L vs. (1.12±0.55)mmol/L, =0.031), and the HDL-C level also decreased significantly ((1.95±0.49)mmol/L vs. (0.95±0.30)mmol/L, =0.006) at the same time period. TG and HDL-C remained stable after liver transplantation during the 24-month follow-up period (>0.05). One and two years after liver transplantation, there was no significant difference in height and weight, malnutrition and growth retardation between the patients in this cohort and Chinese children of the same age. Early liver transplantation is a feasible and effective treatment option for HoFH or cHeFH patients with extremely high serum low-density lipoprotein cholesterol levels.
探讨原位肝移植对纯合子（HoFH）或复合杂合子（cHeFH）家族性高胆固醇血症患者血脂及生长发育的影响。2019年8月至2021年8月在北京协和医院接受治疗、进入罕见病数据库并接受肝移植的患者纳入本单中心回顾性队列研究。通过收集肝移植患者的人口统计学特征、临床表现、超声心动图、降脂治疗、血脂水平数据及供体特征数据，分别计算出生时、移植时及移植后1年的年龄别身高Z评分（HAZ）和年龄别身长Z评分（WAZ）。评估肝移植前后血清胆固醇水平及生长发育变化。本研究共纳入5例HoFH或cHeFH患者，其中女性2例。中位年龄为10岁（6 - 22岁）。中位随访时间为28个月（24 - 33个月）。本研究中所有HoFH或cHeFH患者在原位肝移植前至少3个月接受最大日剂量降脂药物联合低盐低脂饮食控制治疗。治疗3个月后，总胆固醇（TC）平均水平较治疗前下降27%，低密度脂蛋白胆固醇（LDL - C）水平下降21%。术后未进行降脂治疗干预。肝移植1个月后，TC和LDL - C平均水平分别进一步迅速下降68%和76%。肝移植1年后，LDL - C水平从移植前未经任何干预时的（17.1±1.6）mmol/L降至（3.0±0.7）mmol/L，此后保持稳定。此外，与肝移植前未干预相比，最大日剂量降脂药物联合低盐低脂饮食控制3个月后血清甘油三酯（TG）水平下降（（1.88±0.27）mmol/L vs.（1.12±0.55）mmol/L，P = 0.031），同时高密度脂蛋白胆固醇（HDL - C）水平也显著下降（（1.95±0.49）mmol/L vs.（0.95±0.30）mmol/L，P = 0.006）。在24个月随访期内，肝移植后TG和HDL - C保持稳定（P>0.05）。肝移植1年和2年后，该队列患者与同年龄中国儿童在身高、体重、营养不良及生长发育方面无显著差异。早期肝移植是血清低密度脂蛋白胆固醇水平极高的HoFH或cHeFH患者可行且有效的治疗选择。
