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The Amyloidosis Intersection: Dual Amyloid Types in a Single Host.

Soumya Ramireddy1, Tatiana Prokaeva2,3, Hui Chen3

  • 1Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA.

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Dual amyloidosis, involving multiple protein types, presents complex clinical challenges. Accurate fibril typing is crucial for diagnosing and treating patients with co-existing amyloidosis.

Keywords:
AL amyloidosisWaldenström macroglobulinemiaamyloid fibril typingwild type amyloidosis

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Area of Science:

  • Nephrology
  • Cardiology
  • Hematology

Background:

  • Advances in mass spectrometry have enhanced amyloidosis diagnosis accuracy.
  • Dual amyloidogenic proteins can deposit in single or multiple organs.

Purpose of the Study:

  • To investigate the clinical presentation and diagnostic challenges of dual amyloidosis.
  • To highlight the importance of comprehensive fibril typing in patients with multiple amyloid types.

Main Methods:

  • Retrospective analysis of five dual amyloidosis cases diagnosed between 1995 and 2022.
  • Utilized Congo red staining and fibril typing; gene sequencing of TTR and GSN.
  • Conducted a literature review to identify 46 additional cases.

Main Results:

  • Identified various combinations of amyloidosis, including AL with ATTRwt/AGel, and AL/ATTRwt with AA/ATTRwt.
  • Observed dual amyloidosis within a single site, across different sites, or both.
  • Heart and kidneys were the most frequently affected organs, with diagnostic intervals ranging from 0-288 months.

Conclusions:

  • Multiple amyloid types can coexist in individuals, affecting various organs and complicating clinical presentation.
  • Precise diagnosis and tailored treatment require thorough assessment of clinical phenotype and organ-specific fibril typing.