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Amyloidosis: a case series and review of the literature

BACKGROUND: Systemic amyloidosis is group of disorders characterized by the accumulation of insoluble proteins in tissues. The most common form of systemic amyloidosis is light chain amyloidosis, which results from the accumulation of misfolded immunoglobulins. The disease is progressive, with treat...

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Autores principales: Senecal, Justin B., Abou-Akl, Romel, Allevato, Pat, Mazzetti, Ian, Hamm, Caroline, Parikh, Richa, Woldie, Indryas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120233/
https://www.ncbi.nlm.nih.gov/pubmed/37081462
http://dx.doi.org/10.1186/s13256-023-03886-1
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author Senecal, Justin B.
Abou-Akl, Romel
Allevato, Pat
Mazzetti, Ian
Hamm, Caroline
Parikh, Richa
Woldie, Indryas
author_facet Senecal, Justin B.
Abou-Akl, Romel
Allevato, Pat
Mazzetti, Ian
Hamm, Caroline
Parikh, Richa
Woldie, Indryas
author_sort Senecal, Justin B.
collection PubMed
description BACKGROUND: Systemic amyloidosis is group of disorders characterized by the accumulation of insoluble proteins in tissues. The most common form of systemic amyloidosis is light chain amyloidosis, which results from the accumulation of misfolded immunoglobulins. The disease is progressive, with treatment targeted at the underlying plasma cell dyscrasia. Since essentially any organ system can be affected, the presentation is variable and delays in diagnosis are common. Given this diagnostic difficulty, we discuss four different manifestations of light chain amyloidosis. CASE PRESENTATIONS: In this case series, we discuss four cases of light chain amyloidosis. These include cardiac, hepatic, and gastrointestinal as well as autonomic and peripheral nerve involvement with amyloidosis. The patients in our series are of Caucasian background and include a  69-year-old female, a 29-year-old female, a 68-year-old male, and a 70-year-old male, respectively. The case discussions highlight variability in presentation and diagnostic challenges. CONCLUSIONS: Amyloidosis is a rare but serious disease that is often complicated by long delays in diagnosis. Morbidity and mortality can sometimes be limited if diagnosed earlier. We hope our real life cases will contribute to understanding and to early suspicion that can lead to early diagnosis and management.
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spelling pubmed-101202332023-04-22 Amyloidosis: a case series and review of the literature Senecal, Justin B. Abou-Akl, Romel Allevato, Pat Mazzetti, Ian Hamm, Caroline Parikh, Richa Woldie, Indryas J Med Case Rep Case Report BACKGROUND: Systemic amyloidosis is group of disorders characterized by the accumulation of insoluble proteins in tissues. The most common form of systemic amyloidosis is light chain amyloidosis, which results from the accumulation of misfolded immunoglobulins. The disease is progressive, with treatment targeted at the underlying plasma cell dyscrasia. Since essentially any organ system can be affected, the presentation is variable and delays in diagnosis are common. Given this diagnostic difficulty, we discuss four different manifestations of light chain amyloidosis. CASE PRESENTATIONS: In this case series, we discuss four cases of light chain amyloidosis. These include cardiac, hepatic, and gastrointestinal as well as autonomic and peripheral nerve involvement with amyloidosis. The patients in our series are of Caucasian background and include a  69-year-old female, a 29-year-old female, a 68-year-old male, and a 70-year-old male, respectively. The case discussions highlight variability in presentation and diagnostic challenges. CONCLUSIONS: Amyloidosis is a rare but serious disease that is often complicated by long delays in diagnosis. Morbidity and mortality can sometimes be limited if diagnosed earlier. We hope our real life cases will contribute to understanding and to early suspicion that can lead to early diagnosis and management. BioMed Central 2023-04-21 /pmc/articles/PMC10120233/ /pubmed/37081462 http://dx.doi.org/10.1186/s13256-023-03886-1 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Senecal, Justin B.
Abou-Akl, Romel
Allevato, Pat
Mazzetti, Ian
Hamm, Caroline
Parikh, Richa
Woldie, Indryas
Amyloidosis: a case series and review of the literature
title Amyloidosis: a case series and review of the literature
title_full Amyloidosis: a case series and review of the literature
title_fullStr Amyloidosis: a case series and review of the literature
title_full_unstemmed Amyloidosis: a case series and review of the literature
title_short Amyloidosis: a case series and review of the literature
title_sort amyloidosis: a case series and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120233/
https://www.ncbi.nlm.nih.gov/pubmed/37081462
http://dx.doi.org/10.1186/s13256-023-03886-1
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