Evinacumab as an adjunct to lipid apheresis in an infant with homozygous familial hypercholesterolemia.

IF 1 4区医学 Q4 ENDOCRINOLOGY & METABOLISM Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-20 Print Date: 2025-04-28 DOI:10.1515/jpem-2024-0505

Christian Stirnkorb, Verena Ney, Carsten Bergmann, Martin Bald

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Abstract

Objectives: Investigation of the efficacy of the angiopoietin-like protein 3 (ANGPTL3) antibody evinacumab in a four-year-old infant with homozygous familial hypercholesterolemia (HoFH) as an adjunct to lipid apheresis.

Case presentation: A two-year-old boy was found to have xanthomas of the Achilles tendon and LDL cholesterol levels around 900 mg/dL. HoHF was subsequently confirmed by molecular genetics. At the age of three, lipid apheresis was started twice a week. At the age of four, a four-weekly infusion of evinacumab was started. This resulted in a 67 % reduction in LDL cholesterol before apheresis, allowing the frequency of apheresis to be reduced to once a week. The mean LDL concentration fell by a further 37 % despite the reduction in apheresis. With the addition of ezetimibe, the mean LDL concentration was reduced to below 115 mg/dL.

Conclusions: The administration of evinacumab can significantly lower the concentration of LDL cholesterol in infants and thus reduce the frequency of lipid apheresis.

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Evinacumab作为纯合子家族性高胆固醇血症婴儿脂质分离的辅助药物。

目的：研究血管生成素样蛋白3 （ANGPTL3）抗体evinacumab在4岁纯合子家族性高胆固醇血症（HoFH）患儿中作为脂质分离辅助疗法的疗效。病例介绍：一名两岁男孩被发现患有跟腱黄瘤，低密度脂蛋白胆固醇水平约为900 mg/dL。HoHF随后被分子遗传学证实。三岁时，脂质分离开始每周两次。在4岁时，开始了每周一次的evinacumab输注。这导致采血前LDL胆固醇降低67 %，使采血频率减少到每周一次。尽管血液分离减少，LDL的平均浓度进一步下降了37% %。加入依折麦比后，LDL平均浓度降至115 mg/dL以下。结论：evinacumab可显著降低婴儿LDL胆固醇浓度，从而降低脂质分离的频率。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Pediatric Endocrinology & Metabolism 医学-内分泌学与代谢

CiteScore

2.70

自引率

7.10%

发文量

176

审稿时长

3-6 weeks

期刊介绍： The aim of the Journal of Pediatric Endocrinology and Metabolism (JPEM) is to diffuse speedily new medical information by publishing clinical investigations in pediatric endocrinology and basic research from all over the world. JPEM is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology in its broadest sense, which is needed at this time of rapid expansion of the field of endocrinology. JPEM publishes Reviews, Original Research, Case Reports, Short Communications and Letters to the Editor (including comments on published papers),. JPEM publishes supplements of proceedings and abstracts of pediatric endocrinology and diabetes society meetings.