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Performing and Processing FNA of Anterior Fat Pad for Amyloid
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Gastrointestinal amyloidosis: an often unexpected finding with systemic implications.

Catherine E Hagen1, Surendra Dasari2, Jason D Theis1

  • 1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

Human Pathology
|June 30, 2023
PubMed
Summary

Gastrointestinal amyloidosis has twelve types, with AL, ATTR, and AA being most common. Most cases are unexpected but indicate systemic disease, requiring biopsy for accurate diagnosis and treatment.

Keywords:
AmyloidosisCardiac involvementGastrointestinalProteomicsSystemic amyloidosis

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Area of Science:

  • Gastroenterology
  • Pathology
  • Genetics

Background:

  • Gastrointestinal (GI) amyloidosis is common but poorly understood regarding incidence, features, and systemic impact.
  • Twelve distinct types of amyloidosis can affect the GI tract.

Purpose of the Study:

  • To analyze the incidence, clinicopathologic features, and systemic implications of diverse GI amyloidosis types.
  • To evaluate the utility of proteomics for amyloid typing in GI specimens.

Main Methods:

  • Retrospective analysis of 2511 GI amyloid specimens typed using proteomics (2008-2021).
  • Review of clinical and morphologic features in a subset of cases.
  • Identification of amyloid types including AL, ATTR, AA, and others.

Main Results:

  • AL amyloidosis comprised 77.9%, ATTR 11.3%, and AA 6.6% of cases.
  • ATTR cases showed mutations in 24.4%.
  • Common biopsy indications included diarrhea, bleeding, pain, or weight loss; cardiac involvement was frequent in AL (83.5%) and ATTR (100%) patients.

Conclusions:

  • GI amyloidosis is diverse, with AL, ATTR, and AA as predominant types.
  • Most GI amyloidosis is unexpected but signifies systemic disease, necessitating biopsy.
  • Proteomics is crucial for accurate typing, guiding appropriate treatment.