Systemic amyloidosis from A (AA) to T (ATTR): a review

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  • E. Muchtar
    From the Division of Hematology Mayo Clinic Rochester MN USA
  • A. Dispenzieri
    From the Division of Hematology Mayo Clinic Rochester MN USA
  • H. Magen
    Hematology Institute Chaim Sheba Medical Center Tel Hashomer Israel
  • M. Grogan
    Department of Cardiovascular Diseases Mayo Clinic Rochester MN USA
  • M. Mauermann
    Department of Neurology Mayo Clinic Rochester MN USA
  • E. D. McPhail
    Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA
  • P. J. Kurtin
    Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA
  • N. Leung
    From the Division of Hematology Mayo Clinic Rochester MN USA
  • F. K. Buadi
    From the Division of Hematology Mayo Clinic Rochester MN USA
  • D. Dingli
    From the Division of Hematology Mayo Clinic Rochester MN USA
  • S. K. Kumar
    From the Division of Hematology Mayo Clinic Rochester MN USA
  • M. A. Gertz
    From the Division of Hematology Mayo Clinic Rochester MN USA

説明

<jats:title>Abstract</jats:title><jats:p>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.</jats:p>

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