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World J Gastrointest Endosc. Jan 16, 2021; 13(1): 1-12
Published online Jan 16, 2021. doi: 10.4253/wjge.v13.i1.1
Gastrointestinal amyloidosis: A focused review
Dushyant Singh Dahiya, Asim Kichloo, Jagmeet Singh, Michael Albosta, Farah Wani
Dushyant Singh Dahiya, Asim Kichloo, Michael Albosta, Internal Medicine, Central Michigan University, Saginaw, MI 48603, United States
Asim Kichloo, Internal Medicine, Samaritan Medical Center, Watertown, NY 13601, United States
Jagmeet Singh, Internal Medicine, Guthrie Robert Packer Hospital, Sayre, PA 18840, United States
Farah Wani, Family Medicine, Samaritan Medical Center, Watertown, NY 13601, United States
Author contributions: Dahiya DS and Kichloo A are credited with substantial contribution to the design of the work, literature review of all the sections discussed, the revision of critically important intellectual content, final approval of the published version, and agreement of accountability for all aspects of the work; Singh J and Albosta M are credited with significant design of the tables and graphs, literature review of all sections, revision of important intellectual content for the discussion, and agreement of accountability for all parts of the work; Wani F is credited with literature review, final content write up and agreement of accountability for all aspects of the work.
Conflict-of-interest statement: There is no conflict of interest associated with any of the senior author or other coauthors who contributed their efforts in this manuscript.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Michael Albosta, MD, Doctor, Internal Medicine, Central Michigan University, 1000 Houghton Avenue, Saginaw, MI 48603, United States. albos1ms@cmich.edu
Received: October 23, 2020
Peer-review started: October 23, 2020
First decision: December 1, 2020
Revised: December 16, 2020
Accepted: December 27, 2020
Article in press: December 27, 2020
Published online: January 16, 2021
Abstract

Amyloidosis, a heterogenous group of disorders, is characterized by the extracellular deposition of autologous, insoluble, fibrillar misfolded proteins. These extracellular proteins deposit in tissues aggregated in ß-pleated sheets arranged in an antiparallel fashion and cause distortion to the tissue architecture and function. In the current literature, about 60 heterogeneous amyloidogenic proteins have been identified, out of which 27 have been associated with human disease. Classified as a rare disease, amyloidosis is known to have a wide range of possible etiologies and clinical manifestations. The exact incidence and prevalence of the disease is currently unknown. In both systemic and localized amyloidosis, there is infiltration of the abnormal proteins in the layers of the gastrointestinal (GI) tract or the liver parenchyma. The gold standard test for establishing a diagnosis is tissue biopsy followed by Congo Red staining and apple-green birefringence of the Congo Red-stained deposits under polarized light. However, not all patients may have a positive tissue confirmation of the disease. In these cases additional workup and referral to a gastroenterologist may be warranted. Along with symptomatic management, the treatment for GI amyloidosis consists of observation or localized surgical excision in patients with localized disease, and treatment of the underlying pathology in cases of systemic amyloidosis. In this review of the literature, we describe the subtypes of amyloidosis, with a primary focus on the epidemiology, pathogenesis, clinical features, diagnosis and treatment strategies available for GI amyloidosis.

Keywords: Gastroenterology, Hepatology, Amyloidosis, Dysmotility, Endoscopy, Therapeutics

Core Tip: This manuscript focuses on a rare disease entity that can cause significant morbidity and mortality, especially amongst the elderly patient population. Lack of awareness regarding the possibility of gastrointestinal amyloidosis, which presents with vague symptoms common to a host of disorders, can lead to unnecessary testing and delays in diagnosis, contributing to poor outcomes. Physicians should consider the presence of gastrointestinal amyloidosis, especially in elderly patients with conditions predisposing them to the development of amyloid deposition.