How to diagnose amyloidosis

Mollee, P., Renaut, P., Gottlieb, D. and Goodman, H. (2014) How to diagnose amyloidosis. Internal Medicine Journal, 44 1: 7-17. doi:10.1111/imj.12288

Author Mollee, P.
Renaut, P.
Gottlieb, D.
Goodman, H.
Title How to diagnose amyloidosis
Journal name Internal Medicine Journal   Check publisher's open access policy
ISSN 1444-0903
Publication date 2014-01-01
Year available 2014
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1111/imj.12288
Open Access Status
Volume 44
Issue 1
Start page 7
End page 17
Total pages 11
Place of publication Richmond, VIC, Australia
Publisher Wiley-Blackwell Publishing
Language eng
Abstract Amyloidosis is a rare but devastating condition caused by deposition of misfolded proteins as aggregates in the extracellular tissues of the body, leading to impairment of organ function. High clinical suspicion is required to facilitate early diagnosis. Correct identification of the causal amyloid protein is absolutely crucial for clinical management in order to avoid misdiagnosis and inappropriate, potentially harmful treatment, to assess prognosis, and to offer genetic counselling if relevant. This review summarises the current evidence on which the diagnosis and subtyping of amyloidosis is based, outlines the limitations of various diagnostic techniques, particularly in an Australian and New Zealand context, and discusses optimal strategies for the diagnostic approach to these patients. Recommendations are provided for when particularly to suspect amyloidosis, what investigations are required, as well as an approach to accurate subtyping of amyloidosis.
Keyword Amyloidosis
Genetic testing
Q-Index Code CX
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Non HERDC
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School of Medicine Publications
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