A rare gastrointestinal manifestation of systemic primary amyloidosis

Abstract

Symptomatic gastrointestinal (GI) amyloidosis is a rare manifestation of systemic amyloid light chain amyloidosis. Further, the presentation of primary GI amyloidosis without previously diagnosed systemic amyloidosis is exceptionally rare. We describe a case of a patient presenting with abdominal pain, nausea, vomiting, and weight loss later to be diagnosed with localized GI amyloidosis from underlying multiple myeloma. Unfortunately, the GI disease was insurmountable leading to her death. Amyloidosis exerts its pathology at the level of the mucosa, soft tissue, nerves, and vascular supply of the GI tract. No specific treatments for the GI complications of amyloidosis are available and supportive measures are universally employed. GI amyloidosis is not only infrequently amenable to systemic and symptomatic treatment, but has a negative impact on both quality of life and survival.

A Rare Case of Gastrointestinal Amyloidosis Presenting as Dysphagia

“…Second, the deposition of amyloid in the submucosal vessels could hinder blood flow, thus leading to deterioration of the myenteric plexus function [9]. Third, amyloid deposition within the muscularis propria and submucosa could directly impact the Auerbach's and Meissner's plexuses throughout the GI tract, leading to various neurological presentations such as a dilated and atonic esophagus with diminished peristalsis and narrowing, presenting as a clinical picture similar to achalasia [9,10].…”