Filler Guido, Norozi Kambiz
GF and KN are Professors of Pediatrics and Medicine, Departments of Pediatrics and Medicine, Western University, and Children's Hospital, London Health Sciences Centre, London, ON, Canada.
Department of Pediatric Cardiology and Intensive Care Medicine, Hannover Medical School, Hannover, Germany.
Front Pediatr. 2025 Jul 18;13:1559147. doi: 10.3389/fped.2025.1559147. eCollection 2025.
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by severely elevated low-density lipoprotein (LDL) cholesterol levels, predisposing patients to early cardiovascular disease. While LDL apheresis is the standard extracorporeal therapy, plasmapheresis (PLEX) is often used in younger children due to limitations in vascular access. Evinacumab, an ANGPTL3 inhibitor, has emerged as an effective adjunct for lowering LDL cholesterol. This case, to our knowledge, describes the first pediatric outpatient implementation of monthly plasmapheresis with post-PLEX Evinacumab infusions, enabled by dual-port access and Octaplasma support to maintain immunoglobulin levels. This report highlights procedural innovations that enabled sustained therapy and emphasizes the need for standardized approaches for combining Evinacumab with extracorporeal treatment in pediatric HoFH.
纯合子家族性高胆固醇血症（HoFH）是一种罕见的遗传性疾病，其特征是低密度脂蛋白（LDL）胆固醇水平严重升高，使患者易患早期心血管疾病。虽然LDL血液成分分离术是标准的体外治疗方法，但由于血管通路的限制，血浆置换术（PLEX）常用于年幼儿童。血管生成素样蛋白3（ANGPTL3）抑制剂evinacumab已成为降低LDL胆固醇的有效辅助药物。据我们所知，本病例描述了首例儿科门诊患者每月进行血浆置换术并在血浆置换术后输注evinacumab的情况，这是通过双端口通路和Octaplasma支持以维持免疫球蛋白水平实现的。本报告强调了实现持续治疗的程序创新，并强调了在儿科HoFH中将evinacumab与体外治疗相结合的标准化方法的必要性。
