Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Dec;52(12):2046-2067.
doi: 10.1111/imj.15974. Epub 2022 Dec 7.

Current approaches to the diagnosis and management of amyloidosis

Mark S Taylor  1   2   3   4 , Hasib Sidiqi  5 , James Hare  6   7 , Fiona Kwok  1   8 , Bo Choi  6   7 , Darren Lee  7   9   10 , Jay Baumwol  5 , Antonia S Carroll  1   8   11 , Steve Vucic  12 , Pat Neely  13 , Dariusz Korczyk  13 , Liza Thomas  1   8 , Peter Mollee  13   14 , Graeme J Stewart  8 , Simon D J Gibbs  7   10   15
Affiliations
Review

Current approaches to the diagnosis and management of amyloidosis

Mark S Taylor et al. Intern Med J. 2022 Dec.

Abstract

Amyloidosis is a collection of diseases caused by the misfolding of proteins that aggregate into insoluble amyloid fibrils and deposit in tissues. While these fibrils may aggregate to form insignificant localised deposits, they can also accumulate in multiple organs to the extent that amyloidosis can be an immediately life-threatening disease, requiring urgent treatment. Recent advances in diagnostic techniques and therapies are dramatically changing the disease landscape and patient prognosis. Delays in diagnosis and treatment remain the greatest challenge, necessitating physician awareness of the common clinical presentations that suggest amyloidosis. The most common types are transthyretin (ATTR) amyloidosis followed by immunoglobulin light-chain (AL) amyloidosis. While systemic AL amyloidosis was previously considered a death sentence with no effective therapies, significant improvement in patient survival has occurred over the past 2 decades, driven by greater understanding of the disease process, risk-adapted adoption of myeloma therapies such as proteosome inhibitors (bortezomib) and monoclonal antibodies (daratumumab) and improved supportive care. ATTR amyloidosis is an underdiagnosed cause of heart failure. Technetium scintigraphy has made noninvasive diagnosis much easier, and ATTR is now recognised as the most common type of amyloidosis because of the increased identification of age-related ATTR. There are emerging ATTR treatments that slow disease progression, decrease patient hospitalisations and improve patient quality of life and survival. This review aims to update physicians on recent developments in amyloidosis diagnosis and management and to provide a diagnostic and treatment framework to improve the management of patients with all forms of amyloidosis.

Keywords: amyloid; amyloidosis; familial; immunoglobulin light-chain amyloidosis.

PubMed Disclaimer

References

    1. Benson MD, Buxbaum JN, Eisenberg DS, Merlini G, Saraiva MJM, Sekijima Y et al. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2018; 25: 215-9.
    1. Wisniowski B, McLeod D, Adams R, Harvey Y, Armes J, Papadimos D et al. The epidemiology of amyloidosis in Australia. Amyloid 2019; 26: 132-3.
    1. Benson MD. The hereditary amyloidoses. In: Picken MM, Herrera GA and Dogan A, eds Amyloid and Related Disorders: Surgical Pathology and Clinical Correlations. Cham: Springer International Publishing; 2015; 65-80.
    1. Eisenberg DS, Sawaya MR. Structural studies of amyloid proteins at the molecular level. Annu Rev Biochem 2017; 86: 69-95.
    1. Chiti F, Dobson CM. Protein misfolding, amyloid formation, and human disease: a summary of progress over the last decade. Annu Rev Biochem 2017; 86: 27-68.