Department of Paediatric Medicine, Amsterdam UMC, University of Amsterdam, the Netherlands; Department of Clinical Epidemiology and Biostatistics and Bioinformatics, Amsterdam UMC, University of Amsterdam, the Netherlands; Department of Vascular Medicine, Amsterdam UMC, University of Amsterdam, the Netherlands.
Department of Paediatric Medicine, Amsterdam UMC, University of Amsterdam, the Netherlands.
J Clin Lipidol. 2019 Jan-Feb;13(1):31-39. doi: 10.1016/j.jacl.2018.10.011. Epub 2018 Nov 3.
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder that may cause life-threatening cardiovascular disease (CVD) at childhood. Marginal effectiveness of statins in reducing low-density lipoprotein cholesterol (LDL-C) is the reason why extracorporeal removal of LDL-C by lipoprotein apheresis (LA) is recommended at the earliest possible age.
It is, however, unknown to what extent LA effectively reduces the burden of CVD in children with HoFH. We therefore systemically reviewed the literature on the efficacy and safety of LA in children with HoFH.
We conducted a systematic literature search using Embase Classic and Embase on studies that evaluated LA in patients with HoFH aged <19 years and reported on at least one of the following outcome measures: cholesterol levels, xanthoma, CVD, or surrogate outcome markers for CVD. Adverse events were also reported on.
We selected 76 studies on 209 patients, 45 of these were case series and 31 were case reports. Mean LDL-C reduction per session was 63% and 71% for nonselective and selective modes of LA, respectively. HDL-C levels were best preserved with selective LA. Xanthomata regressed or disappeared in 83% of patients during LA treatment, surrogate parameters of CVD remained stable in most patients. Of 123 patients, 24 experienced a CVD event of whom 10 had experienced a CVD before LA onset. Six patients died at follow-up. Reported side effects were overall minor.
LA seems to be a safe therapy and substantially reduces LDL-C and xanthomata in children with HoFH. The efficacy with respect to CVD protection as compared with only pharmacologic and dietary treatment remains unclear.
纯合子家族性高胆固醇血症（HoFH）是一种罕见的遗传性疾病，可导致儿童时期危及生命的心血管疾病（CVD）。他汀类药物降低低密度脂蛋白胆固醇（LDL-C）的效果有限，因此建议尽早通过脂蛋白吸附（LA）进行 LDL-C 的体外清除。
然而，尚不清楚 LA 在多大程度上有效降低 HoFH 儿童 CVD 的负担。因此，我们系统地回顾了 LA 在 HoFH 儿童中的疗效和安全性的文献。
我们使用 Embase Classic 和 Embase 进行了系统的文献检索，检索评估了年龄<19 岁的 HoFH 患者接受 LA 治疗的研究，并报告了以下至少一项结局指标：胆固醇水平、黄瘤、CVD 或 CVD 的替代结局标志物。还报告了不良事件。
我们选择了 76 项关于 209 例患者的研究，其中 45 项为病例系列研究，31 项为病例报告。非选择性和选择性 LA 治疗每例的 LDL-C 降低分别为 63%和 71%。选择性 LA 可最好地维持 HDL-C 水平。在 LA 治疗期间，83%的患者黄瘤消退或消失，大多数患者 CVD 的替代参数保持稳定。在 123 例患者中，24 例发生 CVD 事件，其中 10 例在 LA 治疗前发生过 CVD。6 例患者在随访期间死亡。报告的副作用总体轻微。
LA 似乎是一种安全的治疗方法，可显著降低 HoFH 儿童的 LDL-C 和黄瘤。与仅药物和饮食治疗相比，其在 CVD 保护方面的疗效尚不清楚。
