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复发性静脉血栓栓塞症患者的抗血素III缺乏症:一个病例报告
Jia-Qing Luo1, Shuai-Shuai Mao2, Jin-Yi Chen3
1Department of Vascular Surgery, Changxing People's Hospital, Changxing 313100, Zhejiang Province, China.
World journal of clinical cases
|August 16, 2023
概括
抗血素III缺乏症是一种遗传性疾病,增加了复发性静脉血栓栓塞的风险. 建议长期使用抗凝剂治疗来控制这种遗传性血栓性.
科学领域:
- 遗传学 是一个遗传学.
- 血液学 血液学 血液学
- 内部医学 内部医学
背景情况:
- 抗素III (AT3) 缺乏症是一种自体主导性疾病.
- 它显著增加了发生静脉血栓栓塞 (VTE) 的风险.
- 患有AT3缺乏症的人通常需要终身抗凝治疗.
研究的目的:
- 在一个新诊断出抗血三缺乏症的年轻成年人中呈现复发性深静脉血栓塞 (DVT) 病例.
- 突出基因测试在确定复发性VTE的根本原因方面的重要性.
- 为了强调长期抗凝药治疗在治疗遗传性血栓性病中的作用.
主要方法:
- 一名23岁的男性有DVT病史,在停止服用药物后出现了复发症状.
- 基因测试发现了SERPINC1基因的特定突变,证实了AT3缺乏.
- 临床诊断的DVT是建立基于症状和病史.
主要成果:
- 患者在停止服用里瓦洛克萨班后出现了复发性DVT.
- 基因分析发现了一种SERPINC1变体 (c.667T>C,p.S223P),证实了遗传AT3缺乏.
- 建议患者继续长期抗凝药治疗.
结论:
- 由SERPINC1突变引起的遗传性抗素III缺乏症是复发性静脉瘤的重要危险因素.
- 长期抗凝药是AT3缺乏症患者和VTE病史患者的关键管理策略.
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