title: How to diagnose amyloidosis.
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.
authors.affiliation: Haematology Department, Pathology Queensland, Princess Alexandra Hospital, Brisbane, Queensland, Australia; School of Medicine, University of Queensland, Brisbane, Queensland, Australia.
authors.forename: P
authors.initials: P
authors.lastname: Mollee
authors.forename: P
authors.initials: P
authors.lastname: Renaut
authors.forename: D
authors.initials: D
authors.lastname: Gottlieb
authors.forename: H
authors.initials: H
authors.lastname: Goodman
mesh_terms: D000682:Amyloid / Q000032:analysis; D000686:Amyloidosis / Q000145:classification / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology; D044362:Australasia; D001706:Biopsy; D003224:Congo Red; D005820:Genetic Testing; D006801:Humans; D007150:Immunohistochemistry; D007249:Inflammation / Q000150:complications; D009928:Organ Specificity; D010265:Paraproteinemias / Q000150:complications; D010641:Phenotype; D013194:Staining and Labeling; D053719:Tandem Mass Spectrometry
chemical_list: D000682:Amyloid; D003224:Congo Red
keywords: amyloidosis; diagnosis; genetic testing; immunohistochemistry; proteomics