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Magne Bl Spanggaard1,2, Charlotte T Hansen1,2, Michael Maiborg1,3

  • 1Odense Amyloidose Center, Odense Universitetshospital.

Ugeskrift for Laeger
|January 11, 2023
PubMed
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Amyloidosis is a severe disease from protein misfolding. Early diagnosis and accurate subtyping of amyloidosis, particularly light-chain (AL) and transthyretin (ATTR) types, are crucial for effective management and improved survival.

Area of Science:

  • Biochemistry
  • Pathology
  • Genetics

Background:

  • Amyloidosis is a serious condition characterized by the misfolding and deposition of proteins in organs and tissues.
  • Thirty-eight distinct proteins are identified as amyloidogenic, contributing to disease pathogenesis.
  • The disease is classified as inherited or acquired, and systemic or localized.

Approach:

  • This review focuses on increasing awareness and knowledge regarding the diagnosis of amyloidosis.
  • It highlights the importance of early detection, precise subtyping, and appropriate treatment strategies.
  • The review discusses the two most prevalent subtypes: light-chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis.

Key Points:

  • Accurate subtyping of amyloidosis is essential for guiding treatment decisions.

Related Experiment Videos

  • Light-chain (AL) and transthyretin (ATTR) amyloidosis are the most common forms.
  • Timely diagnosis and management significantly impact patient outcomes and survival rates.

    • Conclusions:

    • Increased awareness and knowledge are vital for improving the diagnosis and management of amyloidosis.
    • Novel therapies have shown promise in enhancing outcomes for systemic AL and ATTR amyloidosis.
    • Early and accurate diagnosis, coupled with relevant treatments, is critical for managing this severe disease.