The Amyloidosis Intersection: Dual Amyloid Types in a Single Host

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.