复发性静脉血栓塞 - 一种不寻常的第一个表现为3B型自身免疫多胞胎症综合征的第一个表现
N Letete1, D Vaz2, P H Malishi3
1National Health Laboratory Services, Tshwane Academic Division, Pretoria, South Africa. nena.letete@gmail.com.
概括
本病例报告详细介绍了一种罕见的3B类型的自身免疫多胞膜病变综合征 (APS-3B) 呈现,涉及复发性静脉血栓塞栓症 (VTE) 和全细胞衰竭. 与维生素B12缺乏相关的高homocysteinaemia被确定为VTE的一个关键因素.
科学领域:
- 内部医学 内部医学
- 血液学 血液学 血液学
- 内分泌学 在内分泌学.
背景情况:
- 复发性静脉血栓塞栓症 (VTE) 和全细胞减小可能会带来诊断上的挑战.
- 在这个病人身上,标准的血栓形成症检查,包括遗传性血栓形成症,抗脂综合征 (APLS) 和阳性夜间血红蛋白尿症,均为阴性.
- 自身免疫性疾病和营养缺乏症可能导致复杂的血液学表现.
研究的目的:
- 描述一种不寻常的表现,即3B型的自身免疫多胞膜病变综合征 (APS-3B).
- 识别未引起的和非典型的VTE的潜在贡献者.
- 为了强调在VTE中高homocysteinaemia的作用.
主要方法:
- 临床病例的介绍.
- 对VTE和全细胞减小的诊断工作.
- 实验室调查包括自身免疫标记物和维生素水平.
主要成果:
- 调查发现了自身免疫性甲状腺疾病和恶性贫血.
- 发现了混合铁和维生素B12缺乏症.
- 由于维生素B12缺乏而导致的高homocysteinaemia被发现并被认为是VTE的贡献者.
结论:
- 3B型自身免疫多胞胎症综合征 (APS-3B) 可能出现复发性静脉动脉突发症和全细胞衰竭.
- 过高homocysteinaemia是不引起的和非典型的VTE的一个重要因素.
- 在复杂的VTE病例中,全面评估至关重要.
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