伴发转甲状腺素蛋白（TTR）和淀粉样轻链（AL）淀粉样变性：诊断挑战与临床意义
Concurrent TTR and AL Amyloidosis: Diagnostic Challenges and Clinical Implications.
作者信息
Wats Karan, Chakraborty Rajshekhar, Navarro-Torres Mariela, Siegelin Markus D, D'Agati Vivette D, Maurer Mathew S
机构信息
Division of Cardiology, Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA.
Division of Hematology/Oncology, Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA.
出版信息
JACC Case Rep. 2025 Sep 3;30(26):104878. doi: 10.1016/j.jaccas.2025.104878.
BACKGROUND
Amyloidosis is a disorder characterized by misfolded protein deposits in organs, often manifesting as cardiac disease.
CASE SUMMARY
A 60-year-old male with a history of isolated proteinuria and recent fat biopsy-proven transthyretin (TTR) amyloidosis was referred to us for evaluation of cardiac involvement with amyloidosis. He underwent a technetium pyrophosphate scan which showed Perugini grade 3 uptake concerning for cardiac involvement. His persistent proteinuria and serum IgG kappa monoclonal protein raised suspicion for light-chain (AL) amyloidosis. Endomyocardial biopsy confirmed TTR cardiac amyloidosis, while a subsequent kidney biopsy and bone marrow evaluation revealed renal-limited AL kappa amyloidosis.
DISCUSSION
This rare presentation highlights the challenge of distinguishing between TTR and AL amyloidosis, especially with atypical features. It underscores the necessity for tissue diagnosis and mass spectrometry in complex cases, even with seemingly concordant noninvasive findings.
背景
淀粉样变性是一种以器官中错误折叠的蛋白质沉积为特征的疾病，常表现为心脏疾病。
病例摘要
一名60岁男性，有孤立性蛋白尿病史，近期脂肪活检证实为转甲状腺素蛋白（TTR）淀粉样变性，因评估心脏淀粉样变受累情况转诊至我院。他接受了焦磷酸锝扫描，结果显示佩鲁吉尼3级摄取，提示心脏受累。他持续存在的蛋白尿和血清IgG κ单克隆蛋白引起了对轻链（AL）淀粉样变性的怀疑。心内膜活检证实为TTR心脏淀粉样变性，而随后的肾脏活检和骨髓评估显示为肾脏局限性AL κ淀粉样变性。
讨论
这种罕见的表现突出了区分TTR和AL淀粉样变性的挑战，尤其是具有非典型特征时。它强调了在复杂病例中进行组织诊断和质谱分析的必要性，即使非侵入性检查结果看似一致。
Zotero 插件