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酷似风湿性疾病的系统性轻链淀粉样变性

Systemic Light Chain Amyloidosis Mimicking Rheumatic Disorders.

作者信息

Rao Rohit R, Yong Wai Chung, Wasko Mary Chester

机构信息

Department of Hematology/Oncology, Allegheny Health Network, 320 East North Avenue, Pittsburgh, PA 15212, USA.

Department of Internal Medicine, The Mary Imogene Bassett Hospital, One Atwell Road, Cooperstown, NY 13326, USA.

出版信息

Case Rep Med. 2016;2016:7649510. doi: 10.1155/2016/7649510. Epub 2016 Nov 29.

Abstract

Secondary amyloidosis can complicate chronic inflammatory autoimmune diseases. However, the clinical findings of primary amyloidosis may mimic those of primary rheumatologic disorders. We present the case of a 53-year-old woman who presented with dystrophic nail changes, dry eyes, bilateral carpal tunnel syndrome, Raynaud's phenomenon, and high titer positive nucleolar pattern antinuclear antibody. She was initially misdiagnosed as having Undifferentiated Connective Tissue Disease (UCTD). On further workup, she was eventually diagnosed with lambda light chain systemic amyloidosis by abdominal fat pad biopsy. Her symptoms completely resolved after autologous stem cell transplantation. With this case, we would like to highlight the similarities in the clinical features between light chain amyloidosis and rheumatological disorders. We would also like to emphasize the importance of the prompt recognition of the clinical features of amyloidosis which are crucial to triggering appropriate diagnostic procedures, since early diagnosis is a key to improving outcomes in this disease with an otherwise poor prognosis.

摘要

继发性淀粉样变性可使慢性炎症性自身免疫性疾病复杂化。然而,原发性淀粉样变性的临床发现可能与原发性风湿性疾病相似。我们报告一例53岁女性,她出现了营养不良性指甲改变、干眼、双侧腕管综合征、雷诺现象以及高滴度阳性核仁型抗核抗体。她最初被误诊为未分化结缔组织病(UCTD)。进一步检查后,通过腹部脂肪垫活检最终诊断为λ轻链系统性淀粉样变性。自体干细胞移植后她的症状完全缓解。通过这个病例,我们想强调轻链淀粉样变性和风湿性疾病临床特征的相似性。我们还想强调及时识别淀粉样变性临床特征的重要性,这对于启动适当的诊断程序至关重要,因为早期诊断是改善这种预后不佳疾病结局的关键。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4433/5153512/c8b71f855af9/CRIM2016-7649510.001.jpg

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