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Amyloidosis: Rheumatic disease and amyloid; clinical features and treatment 

Amyloidosis: Rheumatic disease and amyloid; clinical features and treatment
Amyloidosis: Rheumatic disease and amyloid; clinical features and treatment

H.J. Lachmann

and P.N. Hawkins

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date: 09 August 2020

Most of the clinical features of amyloid are non-specific, malaise and weight loss are frequent early symptoms and, although a high index of suspicion may prompt investigation, the diagnosis of systemic amyloidosis often remains an unexpected biopsy finding. Even after a diagnosis of amyloidosis has been confirmed, subsequent identification of amyloid type may not be straightforward. Definitive diagnosis relies on a combination of clinical features, underlying conditions, histology, immunohistochemistry and, where available, more specialized but highly informative investigations such as SAP scintigraphy, DNA analysis and proteomics. It is unwise to rely on any of these in isolation given the limitations in their sensitivity and specificity, and the possibility that a condition that may be associated with amyloidosis, such as a inflammatory arthritis, monoclonal gammopathy or an amyloidogenic mutation, might be an entirely incidental finding. Clinical evaluation of a patient with amyloidosis must always extend to a thorough characterization of the underlying disorder as treatment of the latter remains the prime objective of management.

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