多模式疗法在低密度脂蛋白受体缺失的纯合子家族性高胆固醇血症中实现了二级预防低密度脂蛋白胆固醇目标。
Multimodal Therapy Achieves Secondary Prevention LDL-C Targets in LDL-Receptor Null Homozygous Familial Hypercholesterolemia.
作者信息
Alkhairy Areej, Xiang Pinhao, Khoo John K, Taylor Carolyn M, Francis Gordon A
机构信息
Division of Endocrinology and Metabolism, University of British Columbia, Vancouver, Canada; Division of Endocrinology and Metabolism, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia.
Division of Endocrinology and Metabolism, University of British Columbia, Vancouver, Canada.
出版信息
JACC Case Rep. 2025 Aug 20;30(24):104648. doi: 10.1016/j.jaccas.2025.104648.
BACKGROUND
Homozygous familial hypercholesterolemia is a rare condition most commonly associated with pathogenic variants in the LDLR gene that leads to mortality before age 20 if not treated.
CASE SUMMARY
A 4-year-old boy of Lebanese origin with multiple skin xanthomas was found to have untreated low-density lipoprotein cholesterol (LDL-C) of 1005 mg/dL (26 mM). Gene analysis revealed biallelic identical LDLR variants with <2% residual LDLR activity (LDLR-null).
DISCUSSION
With combination therapy including maximum dose rosuvastatin, ezetimibe, plasma exchange, lomitapide, and evinacumab, guideline-recommended LDL-C of <70 mg/dL (1.8 mM) was achieved for secondary prevention of coronary disease. With this combined treatment, there has been no progression of his premature coronary heart disease.
TAKE-HOME MESSAGES: Effective treatment of homozygous familial hypercholesterolemia requires multimodal lipid-lowering therapies. With currently available treatments it is possible to achieve previously unattainable lowering of LDL-C to prevent vascular disease and the need for liver transplantation.
背景
纯合子家族性高胆固醇血症是一种罕见病症，最常与低密度脂蛋白受体（LDLR）基因的致病性变异相关，如果不进行治疗，会导致20岁前死亡。
病例摘要
一名来自黎巴嫩的4岁男孩有多处皮肤黄色瘤，其低密度脂蛋白胆固醇（LDL-C）未经治疗时为1005 mg/dL（26 mM）。基因分析显示双等位基因相同的LDLR变异，残余LDLR活性<2%（LDLR无效）。
讨论
通过包括最大剂量瑞舒伐他汀、依折麦布、血浆置换、洛美他派和evinacumab的联合治疗，实现了冠状动脉疾病二级预防指南推荐的LDL-C<70 mg/dL（1.8 mM）。通过这种联合治疗，他的早发性冠心病没有进展。
要点
有效治疗纯合子家族性高胆固醇血症需要多模式降脂疗法。使用目前可用的治疗方法，可以将LDL-C降至以前无法达到的水平，以预防血管疾病和肝移植需求。
Zotero 插件