系统性amyloidosis的多模式成像特征:一个案例报告
Yi Yu1,2, Zhi-Chao Li3, Guang-Yin Li4
1Department of Ultrasound, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, 241 Huaihai Road, Shanghai, 200030, China. yuyichesthospital@163.com.
BMC cardiovascular disorders
|January 3, 2025
概括
系统性轻链 Amyloidosis (AL) 是一种罕见的疾病,在早期阶段经常错过. 多式成像,包括心声回声和活检,对于准确诊断和及时治疗AL粉样症至关重要.
科学领域:
- 心脏病学 心脏病学
- 血液学 血液学 血液学
- 医疗成像医学成像
背景情况:
- 系统性轻链氨基粉症 (AL) 是一种罕见的,具有严重发病率和死亡率的激进性血细胞疾病.
- 胃肠道和心肌干扰是常见的,但由于非特异性症状和常规成像方面的挑战,可能导致延迟诊断.
- 早期和准确的诊断对于启动有效的治疗和改善患者的结果至关重要.
研究的目的:
- 为了呈现一种罕见的全身AL氨基粉症病例,并具有最初的胃肠道症状.
- 突出诊断挑战,并强调需要早期识别AL氨基粉症.
- 为了强调多式成像在诊断AL粉样性病的重要性.
主要方法:
- 一个68岁男性的案例研究,患有一年半的腹和四个月的消化不良.
- 胸外心声图显示心肌缩 ("地玻璃"外观),减少LVEF (51%) 和GLS (-9.00%).
- 腹部脂肪活检证实了氨基粉症;采用多式成像和生物标志物分析 (升高的无血清光链).
主要成果:
- 心脏MRI显示没有加多延迟增强,尽管心声回声学发现.
- 活检证实了涉及心脏,脏,胃肠道和神经系统的系统性AL氨基粉症 (梅奥病期III).
- 该患者接受了达拉-BCD化疗治疗,并显示了改善.
结论:
- 系统性AL氨基粉症容易被误诊,延迟了关键的早期治疗.
- 带有负加多增强的标准心脏MRI可能是误导性的;心声回声特征 (减少GLS) 是至关重要的.
- 综合多式成像,包括活检,对于准确诊断AL粉样性粉症至关重要.
相关概念视频
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Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
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Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
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