Department of Paediatrics, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Department of Vascular Medicine, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
Atherosclerosis. 2020 Apr;299:24-31. doi: 10.1016/j.atherosclerosis.2020.01.031. Epub 2020 Feb 18.
Homozygous familial hypercholesterolemia (hoFH) may cause life-threatening atherosclerotic cardiovascular disease in childhood. Lipoprotein apheresis (LA) is considered a pivotal treatment option, but data on its efficacy, safety and optimal performance are limited. We therefore established an international registry on the execution and outcomes of LA in HoFH children. Here we report LA policies and short-term outcomes.
We approached centers worldwide, involved in LA in children with hoFH for participation. We collected information on clinical and treatment characteristics on patients aged 0-19 years between November 2016 and November 2018.
We included 50 children, treated at 15 sites. Median (IQR) LDL-C levels at diagnosis, on medication and on LA were 19.2 (16.2-22.1), 14.4 (10.8-16.7) mmol/L and 4.6 mmol/L, respectively. Median (IQR) time between diagnosis and start of LA was 2.8 (1.0-4.7) years. Six (12%) patients developed cardiovascular disease during that period. Most children received LA either weekly (43%) or biweekly (37%). Seven (17%) patients reached mean LDL-C levels <3.5 mmol/L, all of them treated at least weekly. Xanthomas were present in 42 (84%) patients at diagnosis and disappeared completely in 19 (45%) on LA. Side effects of LA were minor. There were significant differences in LA conduction between sites in terms of frequency, responsible medical specialities and vascular access.
LA is a safe treatment and may effectively lower LDL-C in children with HoFH. However, there is room for improvement with respect to time of onset and optimization of LA therapy in terms of frequency and execution.
纯合子家族性高胆固醇血症（hoFH）可导致儿童发生危及生命的动脉粥样硬化性心血管疾病。脂蛋白吸附（LA）被认为是一种重要的治疗选择，但关于其疗效、安全性和最佳疗效的数据有限。因此，我们建立了一个关于 LA 在 HoFH 儿童中的应用和结果的国际登记处。在此，我们报告 LA 的治疗策略和短期结果。
我们联系了全球范围内参与儿童 hoFH 患者 LA 治疗的中心，邀请他们参与。我们收集了 2016 年 11 月至 2018 年 11 月期间 0-19 岁患者的临床和治疗特征信息。
我们纳入了 50 名在 15 个中心接受治疗的儿童。诊断时、用药时和 LA 治疗时的 LDL-C 水平中位数（IQR）分别为 19.2（16.2-22.1）、14.4（10.8-16.7）mmol/L 和 4.6mmol/L。诊断和开始 LA 治疗之间的中位（IQR）时间为 2.8（1.0-4.7）年。在此期间，有 6 名（12%）患者发生心血管疾病。大多数儿童接受 LA 治疗的频率为每周（43%）或每两周（37%）一次。7 名（17%）患者的平均 LDL-C 水平<3.5mmol/L，他们均至少每周接受一次 LA 治疗。42 名（84%）患者在诊断时存在黄瘤，其中 19 名（45%）在接受 LA 治疗后完全消失。LA 的副作用较小。在 LA 的实施频率和执行方面，各中心之间存在明显差异，表现在频率、负责的医学专业和血管通路。
LA 是一种安全的治疗方法，可有效降低 HoFH 儿童的 LDL-C。然而，在 LA 治疗的开始时间和优化方面，仍有改进的空间，包括频率和执行方面。
