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双粉样性粉症:对111名患者的临床病理学和蛋白质学分析
Joanna C Dalland1, Surendra Dasari2, Jason D Theis1
1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Human pathology
|October 16, 2025
概括
识别双粉样类型对于有效治疗至关重要. 这项研究分析了111名患有两种粉样蛋白类型的患者,发现AL加ATTR粉样蛋白最常见,特别是在心脏病例中.
科学领域:
- 心血管病理学心血管病理学
- 蛋白质组学是指蛋白质组学.
- 医学诊断 医学诊断 医学诊断
背景情况:
- 双粉样性粉症,即在一个病人身上存在两种不同的粉样类型,并不常见.
- 准确识别所有粉样类型至关重要,因为治疗方法根据前体蛋白质有很大差异.
研究的目的:
- 为了研究诊断为双粉样性粉症的患者的临床病理学和蛋白质学特征.
- 突出全面的粉样类型对患者管理的重要性.
主要方法:
- 通过液体染色学-并联质谱法 (LC-MS/MS) 类型化的51,309个粉样物的回顾性分析.
- 确定了111名患有双粉样类型的患者.
- 对人口统计,蛋白质组和临床数据的审查.
主要成果:
- 在111名患者 (83%是男性,中位数年龄为78岁) 中发现了双重氨基粉症.
- 在50%的患者中观察到心脏参与.
- 最常见的组合是免疫球蛋白轻链 (AL) 氨基粉症加 transthyretin (ATTR) 氨基粉症 (62%),特别是在心脏病例 (68%).
- 双粉样类型发生在相同或不同的解剖区内.
结论:
- 在所有情况下,全面的粉样蛋白类型化是必不可少的,利用形态学审查,并在临床发现异常时考虑双重类型.
- 从第二个解剖部位进行活检可能是必要的,以确定第二种粉样蛋白类型.
- 准确诊断双粉样性粉症指导适当的治疗策略.
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