美国国家队列中肝硬化患者的α-1抗素缺乏症
Binu V John1,2, Dustin Bastaich1,3, Andres Samos1,4
1Division of Gastroenterology and Hepatology, Miami VA Medical System.
Clinical and translational gastroenterology
|February 16, 2026
概括
在肝硬化患者中,α-1抗素缺乏 (AATD) 测试的水平较低. 高风险人群不太可能接受测试,因此在肝硬化中需要进行普遍的AATD查,无论病因如何.
科学领域:
- 肝病学 肝病学是一种肝病学.
- 肺部病理学 肺部病理学
- 医学遗传学 医学遗传学
背景情况:
- 阿尔法-1抗素缺乏症 (AATD) 是一种遗传疾病,增加了慢性肺部和肝脏疾病的风险.
- 目前的指导方针建议对密码性肝病进行AATD测试,但不建议对已确定的病因进行测试.
- 关于被诊断患有肝硬化的患者中AATD测试率的数据有限.
研究的目的:
- 为了评估阿尔法-1抗素缺乏症 (AATD) 测试模式,在一个全国性的肝硬化患者队列.
- 在肝硬化患者中确定AATD测试和严重AATD的预测因子.
- 为了告知AATD对肝硬化患者的测试指南的潜在修订.
主要方法:
- 美国退伍军人在2008年1月1日至2020年1月31日期间被诊断患有肝硬化症的回顾性队列研究.
- 后续数据延长至2023年2月23日.
- 分析包括确定AATD测试和严重AATD (AAT<57 mg/dl或PiSZ/PiZZ表型/基因型) 的预测因素.
主要成果:
- 在126,210名肝硬化患者中,33.6%接受了AATD测试.
- 专家评估和白人种族与更高的测试率有关;患有COPD,病毒性肝炎,肝细胞癌或不补偿性肝硬化的患者不太可能接受测试.
- 只有50%的低AAT水平 (<57 mg/dl) 的患者进行了基因型/表型测试,94.7%的严重AATD-LD病例具有替代病因 (例如,MASLD,病毒性肝炎).
结论:
- 在肝硬化退伍军人中,α-1抗素缺乏 (AATD) 检测率较低.
- 具有AATD相关肝病风险较高的患者,矛盾的是,不太可能接受测试.
- 建议在肝硬化患者中进行通用AATD测试,无论其他风险因素如何,以改善诊断和管理.
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