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Systemic Amyloidosis From A (AA) to T (ATTR): A Review

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source: Journal of Internal Medicine

year: 2020

authors: E. Muchtar, A. Dispenzieri, H. Magen, M. Grogan, M. Mauermann, E. D. McPhail, P. J. Kurtin, N. Leung, F. K. Buadi, D. Dingli, S. K. Kumar, M. A. Gertz

summary/abstract:

Systemic amyloidosis is a rare protein misfolding and deposition disorder leading to progressive organ failure. There are over 15 types of systemic amyloidosis, each caused by a different precursor protein which promotes amyloid formation and tissue deposition. Amyloidosis can be acquired or hereditary and can affect various organs, including the heart, kidneys, liver, nerves, gastrointestinal tract, lungs, muscles, skin and soft tissues. Symptoms are usually insidious and nonspecific resulting in diagnostic delay. The field of amyloidosis has seen significant improvements over the past decade in diagnostic accuracy, prognosis prediction and management.
 
The advent of mass spectrometry‐based shotgun proteomics has revolutionized amyloid typing and has led to the discovery of new amyloid types. Accurate typing of the precursor protein is of paramount importance as the type dictates a specific management approach. In this article, we review each type of systemic amyloidosis to provide the practitioner with practical tools to improve diagnosis and management of these rare disorders.
 
organization: Mayo Clinic, USA; Chaim Sheba Medical Center, Israel

DOI: 10.1111/joim.13169

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