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Updated: Jan 31, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Clinical and endoscopic manifestations of gastrointestinal amyloidosis: a case series
Andree Hermes Koop1, Omar Y Mousa1, Ming-Hsi Wang1
1Gastroenterology and Hepatology Department, Mayo Clinic Florida, United States.
Abstract:
Gastrointestinal (GI) amyloidosis is rare and has varying clinical and endoscopic presentations. In this case series, we present three patients with primary systemic amyloid-light chain (AL) amyloidosis with GI involvement and complications of GI bleeding. We also provide a brief review of the literature, including clinical presentation, endoscopic findings, pathology, and management of GI amyloidosis. The endoscopic findings of GI amyloidosis can vary, including friable mucosa with erosions, ulcers, and submucosal hematomas or mucosal thickening with polypoid protrusions. The endoscopic findings may correlate with the pathologic deposition of amyloid fibrils. Treatment of GI amyloidosis is generally focused on management of the underlying condition and supportive care. Gastroenterologists should be familiar with the endoscopic findings as they may be the first suggestion of disease and allow for definitive diagnosis.
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Clinical Manifestations:

