病例报告：累及心脏和骨骼肌的系统性淀粉样变性
Case Report: Systemic Amyloidosis Involving the Heart and Skeletal Muscle.
作者信息
Lv Pinchao, Li Yuxi, Wu Lin, Shi Qiuping, Meng Lingchao, Yu Xiaojuan, Nong Lin, Li Jianping
机构信息
Department of Cardiology, Peking University First Hospital, Beijing, China.
Department of Neurology, Peking University First Hospital, Beijing, China.
出版信息
Front Cardiovasc Med. 2022 Apr 4;9:816236. doi: 10.3389/fcvm.2022.816236. eCollection 2022.
BACKGROUND
Amyloidosis refers to an etiologically heterogeneous group of protein misfolding diseases characterized by extracellular deposition in organs and tissues of amyloid fibers, leading to severe organ dysfunction and death. Systemic amyloidosis often involves multiple organs. Heart and kidney are the most commonly affected organs, whereas skeletal muscle involvement is rare and often accompanied by other organs' involvement.
CASE SUMMARY
We reported a 70-year-old man manifested with myopathy followed by heart failure who was suspected of transthyretin amyloidosis clinically, after the pathological results and the Tc-pyrophosphate (Tc-PYP) scintigraphy, light-chain (AL) amyloidosis involving the heart and skeletal muscle was confirmed.
CONCLUSION
The patient's unique presentation gives insight into a rare but debilitating disorder and the potential link between various types of amyloidosis. In addition, myopathy in amyloidosis should be recognized.
背景
淀粉样变性是一组病因异质性的蛋白质错误折叠疾病，其特征是淀粉样纤维在器官和组织中细胞外沉积，导致严重器官功能障碍和死亡。系统性淀粉样变性常累及多个器官。心脏和肾脏是最常受累的器官，而骨骼肌受累罕见，且常伴有其他器官受累。
病例摘要
我们报告了一名70岁男性，临床表现为肌病，随后出现心力衰竭，临床怀疑为转甲状腺素蛋白淀粉样变性，经病理结果和锝-焦磷酸盐（Tc-PYP）闪烁扫描后，确诊为累及心脏和骨骼肌的轻链（AL）淀粉样变性。
结论
患者独特的表现有助于深入了解一种罕见但使人衰弱的疾病以及各种类型淀粉样变性之间的潜在联系。此外，应认识到淀粉样变性中的肌病。
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