Anna Colangelo, Francesco Tromby, Elisabetta Agliani, Lorenza Bruno, Giacomo Cafaro, Federico Crusco, Anna Mengoni, Cinzia Zuchi, Roberto Gerli, Elena Bartoloni, Carlo Perricone
{"title":"Simultaneous onset of systemic sclerosis and light chain amyloidosis: the first report of a case report and review of the literature.","authors":"Anna Colangelo, Francesco Tromby, Elisabetta Agliani, Lorenza Bruno, Giacomo Cafaro, Federico Crusco, Anna Mengoni, Cinzia Zuchi, Roberto Gerli, Elena Bartoloni, Carlo Perricone","doi":"10.1007/s00296-025-05982-5","DOIUrl":null,"url":null,"abstract":"<p><p>Systemic sclerosis (SSc) and amyloidosis are rare, complex conditions that impair the function of multiple organs, each with distinct pathogenic mechanisms: autoimmunity for SSc and misfolded protein deposition for amyloidosis. We present the first documented case of a 57-year-old woman with coexisting SSc and systemic AL amyloidosis with multi-organ involvement, in which treatment for amyloidosis led to a notable improvement in SSc symptoms. The patient presented experiencing fatigue, exertional dyspnea, epigastric pain and syncopal episodes in the summer of 2023. Investigations revealed mild increase in left ventricle thickness, elevated NT-proBNP and troponin with negative coronary angiography. She was subsequently diagnosed with SSc with multi-organ involvement and systemic AL amyloidosis confirmed by biopsy. Treatment with a modified Dara-CyBorD protocol led to improvement in SSc symptoms, especially in terms of dyspnea and skin involvement. This is the first reported case of SSc coexisting with systemic AL amyloidosis. The patient responded well to therapy for amyloidosis, suggesting potential overlapping treatment benefits. A multidisciplinary approach was essential, and further studies are needed to explore therapeutic interactions between these two rare diseases.</p>","PeriodicalId":21322,"journal":{"name":"Rheumatology International","volume":"45 10","pages":"227"},"PeriodicalIF":2.9000,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12441099/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rheumatology International","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00296-025-05982-5","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"RHEUMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Systemic sclerosis (SSc) and amyloidosis are rare, complex conditions that impair the function of multiple organs, each with distinct pathogenic mechanisms: autoimmunity for SSc and misfolded protein deposition for amyloidosis. We present the first documented case of a 57-year-old woman with coexisting SSc and systemic AL amyloidosis with multi-organ involvement, in which treatment for amyloidosis led to a notable improvement in SSc symptoms. The patient presented experiencing fatigue, exertional dyspnea, epigastric pain and syncopal episodes in the summer of 2023. Investigations revealed mild increase in left ventricle thickness, elevated NT-proBNP and troponin with negative coronary angiography. She was subsequently diagnosed with SSc with multi-organ involvement and systemic AL amyloidosis confirmed by biopsy. Treatment with a modified Dara-CyBorD protocol led to improvement in SSc symptoms, especially in terms of dyspnea and skin involvement. This is the first reported case of SSc coexisting with systemic AL amyloidosis. The patient responded well to therapy for amyloidosis, suggesting potential overlapping treatment benefits. A multidisciplinary approach was essential, and further studies are needed to explore therapeutic interactions between these two rare diseases.
期刊介绍:
RHEUMATOLOGY INTERNATIONAL is an independent journal reflecting world-wide progress in the research, diagnosis and treatment of the various rheumatic diseases. It is designed to serve researchers and clinicians in the field of rheumatology.
RHEUMATOLOGY INTERNATIONAL will cover all modern trends in clinical research as well as in the management of rheumatic diseases. Special emphasis will be given to public health issues related to rheumatic diseases, applying rheumatology research to clinical practice, epidemiology of rheumatic diseases, diagnostic tests for rheumatic diseases, patient reported outcomes (PROs) in rheumatology and evidence on education of rheumatology. Contributions to these topics will appear in the form of original publications, short communications, editorials, and reviews. "Letters to the editor" will be welcome as an enhancement to discussion. Basic science research, including in vitro or animal studies, is discouraged to submit, as we will only review studies on humans with an epidemological or clinical perspective. Case reports without a proper review of the literatura (Case-based Reviews) will not be published. Every effort will be made to ensure speed of publication while maintaining a high standard of contents and production.
Manuscripts submitted for publication must contain a statement to the effect that all human studies have been reviewed by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in an appropriate version of the 1964 Declaration of Helsinki. It should also be stated clearly in the text that all persons gave their informed consent prior to their inclusion in the study. Details that might disclose the identity of the subjects under study should be omitted.