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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Intestinal involvement in amyloidosis is a sequential process.

Marjanne den Braber-Ymker1, Sanneke Heijker2, Martin Lammens1,3,4

  • 1Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.

Neurogastroenterology and Motility
|September 20, 2018
PubMed
Summary

Gastrointestinal amyloidosis leads to dysmotility. Histological analysis reveals amyloid in blood vessels and muscular layers, associated with interstitial cells of Cajal loss, potentially causing severe symptoms.

Keywords:
amyloidamyloidosisgastrointestinal tracthistologyintestinal dysmotility

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Area of Science:

  • Gastroenterology
  • Pathology
  • Histology

Background:

  • Gastrointestinal amyloidosis is a known cause of dysmotility.
  • A detailed histological understanding of these symptoms is currently lacking.
  • This study systematically investigates the histological features of intestinal dysmotility in AL and AA amyloidosis patients.

Purpose of the Study:

  • To conduct a comprehensive histological analysis of intestinal dysmotility in patients with AL and AA amyloidosis.
  • To compare histological findings in amyloidosis patients with control groups.
  • To elucidate the pathological mechanisms underlying gastrointestinal dysmotility in amyloidosis.

Main Methods:

  • Autopsy tissue from the small bowel and colon was histologically evaluated.
  • Techniques included H&E, PAS, EVG, Congo red staining, and immunohistochemistry.
  • Evaluated components included mucosa, blood vessels, muscular layers, enteric nervous system (ENS), and interstitial cells of Cajal (ICC).

Main Results:

  • Amyloid deposits were consistently found in vascular walls across all amyloidosis patients.
  • The muscular layers were involved in 64% of patients, particularly AA amyloidosis, with polyglucosan bodies.
  • Amyloid was observed around the myenteric plexus, linked to ICC loss, but not neuronal density reduction.

Conclusions:

  • Intestinal dysmotility in amyloidosis may be a sequential process starting with vascular amyloid deposition.
  • This process potentially involves muscular layer involvement and ICC loss.
  • Severe clinical symptoms may arise in later stages affecting the myenteric plexus.