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先天性非原生血症与同时存在的因子V莱登突变复杂的Budd-Chiari综合征:一个病例报告

Rim A Boutari¹, Fatima I Hsayan¹, Fatmeh Mallah²

¹Gastroenterology and Hepatology, Faculty of Medicine, Lebanese University, Beirut, LBN.

|December 19, 2025

概括

遗传性非布林基因血症是一种罕见的出血障碍,矛盾的是,它可以导致像Budd-Chiari综合征这样的血栓事件. 这一案例凸显了对受影响患者进行血栓友爱检查的必要性.

科学领域:

血液学血液学血液学
遗传学遗传学是一个
内部医学内部医学

背景情况:

先天性非布林基因血症是一种罕见的自体逆变性出血障碍,由于缺少纤维素原体.
患者通常出现出血,但血栓事件越来越多地被认可.
布德-奇亚里综合征 (BCS) 是一种罕见的肝静脉外流阻塞.

研究的目的:

报告一个患有与Budd-Chiari综合征相关的先天性非蛋白质造血病的病例.
为了研究遗传性血栓友病在这个患者中的作用.
讨论复杂的管理方法,平衡出血和凝血风险.

主要方法:

一个15岁的女性患有先天性非蛋白原生血病的案例报告.
根据临床表现来诊断Budd-Chiari综合征.
对血栓性突变进行遗传检测,包括V因子.

主要成果:

这位患者被诊断出患有Budd-Chiari综合征.
基因检测显示了异构V因子莱顿突变.
治疗包括纤维素替代和抗凝剂,导致临床改善.

结论:

遗传性非布林基因血症可以与原血栓性疾病 (如V因子莱登突变) 一起存在.
血栓性并发症,如BCS,需要提高对先天性非原生血症的认识.
个性化,多学科的管理对于优化罕见的凝血障碍的结果至关重要.

关键词:

出血和血栓形成的情况.布达奇亚里综合征 (Budd-chiari综合征) 是一种遗传性非布林基因血症是先天性的.导致因子v-Leiden突变的突变.肝脏静脉外流阻塞肝脏静脉外流阻塞血栓友爱症 (Thrombophilia) 是一种发生血栓友爱症的疾病.

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