Amyloidosis: a case series and review of the literature

Journal of Medical Case Reports

Case Report

Richa Parikh¹  Justin B. Senecal²  Romel Abou-Akl²  Ian Mazzetti³  Caroline Hamm³  Pat Allevato³  Indryas Woldie⁴ 

[1]Karmanos Cancer Center, Detroit, MI, USA

[2]Schulich School of Medicine and Dentistry, London, ON, Canada

[3]Windsor Regional Hospital, Windsor, ON, Canada

[4]Windsor Regional Hospital, Windsor, ON, Canada

[5]Karmanos Cancer Center, Detroit, MI, USA

关键词: Amyloidosis;    Light chain;    Monoclonal gammopathy;   

DOI  :  10.1186/s13256-023-03886-1

 received in 2022-07-02, accepted in 2023-03-10,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundSystemic 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 presentationsIn 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.ConclusionsAmyloidosis 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.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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Fig. 4