成功治疗Rituximab的GPIHBP1自身抗体相关的高甘油三血症
Tasmeen Hussain1, Audra Horomanski2, Sneha Jain1
1Division of Cardiovascular Medicine, Stanford University, Stanford, California, USA.
GPIHBP1自身抗体综合征 (GPIHBP1-AAS) 导致严重的高甘油三和胰腺炎. 利图西马布有效地治疗了患有这种罕见疾病的患者,使甘油三水平正常化.
科学领域:
- 内分泌学 在内分泌学.
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
背景情况:
- 一名50岁的女性出现严重的高甘油三血症 (高达1640毫克/分升) 和复发性胰腺炎.
- 标准治疗包括纤维酸盐,icosapent乙烯,罗斯瓦斯塔丁和饮食是无效的,甘油三水平升至8200mg/dL以上.
研究的目的:
- 在对常规治疗无反应的患者中调查严重高甘油三血的原因.
- 评估利图西马布在治疗GPIHBP1自身抗体综合征 (GPIHBP1-AAS) 的疗效.
主要方法:
- 基因测试排除了常见的胆氏红细胞病基因 (LPL,APOC2,APOA5,LMF1,GPIHBP1) 中的突变.
- 测试显示GPIHBP1的自身抗体升高,GPIHBP1水平显著降低,证实了GPIHBP1-AAS.
- 该患者接受了两剂1000毫克的瑞图西马布,分隔3周.
主要成果:
- 在Rituximab治疗后,4个月内,甘油三水平从1746 mg/dL下降到81 mg/dL.
- 在治疗后12个月,甘油三水平保持在正常水平,不需要进一步剂量.
- 患者经历了复发性胰腺炎的解决.
结论:
- GPIHBP1自身抗体综合征 (GPIHBP1-AAS) 是最近描述的一种与严重的高甘油三血症和复发性胰腺炎相关的疾病.
- 利图西马布治疗在治疗高甘油三血症方面表现出很高的疗效,在这个患有GPIHBP1-AAS.AS的患者中.
- 应该承认GPIHBP1-AAS是严重高甘油三血症的可治疗原因.
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