在APOA5 c.553G中可逆降低的脂蛋白脂酶>T相关的过高甘油三血症成功地用pemafibrate治疗
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Updated: Feb 20, 2026

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Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation
Published on: January 28, 2021
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Shozo Miyauchi1, Yuji Utsunomiya1, Masashi Okamoto1
1Department of Diabetes and Endocrinology, Ehime Prefectural Central Hospital, Matsuyama, Ehime, Japan.
Endocrinology, diabetes & metabolism case reports
|February 18, 2026
概括
一种罕见的同卵性APOA5突变导致严重的高甘油三血症,对生活方式的改变没有反应. 纤维酸治疗使甘油三水平正常化,改善了脂蛋白脂酶功能,证明了其在遗传性高甘油三血症中的有效性.
科学领域:
- 遗传学和分子生物学
- 心血管医学 心血管医学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 严重的高甘油三血症可能是影响脂质代谢的遗传突变造成的.
- 阿波蛋白A5 (APOA5) 突变与甘油三调节有关.
- 了解高甘油三血症的遗传基础对于有效治疗至关重要.
研究的目的:
- 在患有高甘油三水平的患者中调查严重高甘油三血症的遗传原因.
- 评估pemafibrate在管理与APOA5突变相关的高甘油三血症的治疗疗效.
- 探索APOA5突变在与脂蛋白脂酶 (LPL) 相关的高甘油三血症中的作用.
主要方法:
- 一个47岁的妇女的病例报告,患有严重的高甘油三血症.
- 基因检测用于识别APOA5和其他脂质代谢基因中的突变.
- 脂蛋白分离和肝素化后的脂蛋白脂酶 (PH-LPL) 水平评估.
- 用纤维酸 (一种选择性PPARα调节剂) 治疗,并监测脂质概况和PH-LPL水平.
主要成果:
- 一个同卵性APOA5 c.553G>T突变被确定为严重高甘油三血症 (TG 1,047 mg/dL) 和降低PH-LPL水平的原因.
- 纤维酸治疗导致脂质水平显著改善,胆米克龙完全消失,PH-LPL水平在两个月内正常化.
- 患者的病情与V型高脂蛋白血症一致,并排除了二次原因.
结论:
- 同胞性APOA5突变可以通过损害脂解,可能通过降低LPL蛋白水平,导致严重的过高甘油三血症.
- 佩马菲布拉特在管理与APOA5相关的高甘油三血症方面显示出显著的治疗益处,改善了脂质谱和LPL功能.
- 准确的基因诊断对于识别遗传性高甘油三血症和指导治疗策略至关重要,包括使用选择性PPARα调节器.
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