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When to suspect and how to approach a diagnosis of amyloidosis

Law, Steven; Gillmore, Julian D; (2022) When to suspect and how to approach a diagnosis of amyloidosis. American Journal of Medicine , 135 (Suppl 1) S2-S9. 10.1016/j.amjmed.2022.01.004. Green open access

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Abstract

Diagnoses of amyloidosis, particularly transthyretin amyloid cardiomyopathy (ATTR-CM), are steadily increasing throughout the world but the condition remains underdiagnosed. Patients with amyloidosis may present to a range of medical and surgical specialties, often with multi-system disease, and a high index of clinical suspicion is required for diagnosis. Bone scintigraphy and cardiovascular magnetic resonance imaging (CMR) offer highly sensitive and specific imaging modalities for cardiac amyloidosis. Histological confirmation of amyloid deposition and amyloid type remains the cornerstone of diagnosis for most amyloid types, with ATTR-CM the exception, which may be diagnosed by validated non-biopsy diagnostic criteria in the majority. Histological diagnosis of amyloid has been enhanced by laser capture microdissection and tandem mass spectrometry. Early diagnosis and treatment prior to the development of end organ damage remains key to improving morbidity and mortality for patients with amyloidosis.

Type: Article
Title: When to suspect and how to approach a diagnosis of amyloidosis
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.amjmed.2022.01.004
Publisher version: https://doi.org/10.1016/j.amjmed.2022.01.004
Language: English
Additional information: © 2022 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)
Keywords: AL, ATTR, Amyloidosis, amyloid, early diagnosis
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
URI: https://discovery.ucl.ac.uk/id/eprint/10148240
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