Primary Localized Amyloidosis of the Intestine: A Pathologist Viewpoint

Abstract

Background: Localized amyloidosis of the intestine is a rare entity, which can clinically masquerade several conditions such as colitis, polyps, and malignant tumors. This study aims to evaluate the clinicopathological features of this entity. Methods: To evaluate the clinicopathological features of this entity, a comprehensive search of the literature (1960 to 2019) was done using the following keywords: "amyloidosis" and "small intestine" or "duodenum" or "ileum" or "jejunum" or "colon". We identified 756 studies about gastrointestinal amyloidosis. Data were examined for 27 studies about localized intestinal amyloidosis. The clinicopathological features were described. Results: The age at presentation ranged from 29 to 88 years. The male to female ratio was 3:1. The jejunum and sigmoid colon were the most commonly involved sites. Abdominal pain and intestinal obstruction (small intestine), or rectal bleeding (sigmoid region) were the most common clinical presentations. Colonoscopic findings included wall thickening, mucosal ulcerations (small intestine), and tumor-like masses (colon). Conclusions: The clinical presentations of localized intestinal amyloidosis depend on the site of the deposition of the amyloid. In most cases, amyloid deposits consisted of light chain protein.

Amyloidosis of the distal ileum: A stricturing lesion is not always Crohn's disease

“…Primary amyloidosis, known as AL amyloidosis caused by light chain immunoglobulins, is the most common form of amyloidosis and is associated with haematological malignancies 7 . In secondary amyloidosis, known as AA amyloidosis, there is evidence of coexisting disease leading to the production of serum amyloid A protein, an acute phase reactant found in infectious and chronic inflammatory diseases such as rheumatoid arthritis 5,7,8 …”

“…6 Primary amyloidosis, known as AL amyloidosis caused by light chain immunoglobulins, is the most common form of amyloidosis and is associated with haematological malignancies. 7 In secondary amyloidosis, known as AA amyloidosis, there is evidence of coexisting disease leading to the production of serum amyloid A protein, an acute phase reactant found in infectious and chronic inflammatory diseases such as rheumatoid arthritis. 5,7,8 The gastrointestinal tract can be affected in 60% of patients with AA amyloidosis, while only 1%-8% of patients with amyloidosis caused by light chain immunoglobulins (AL amyloidosis) have gastrointestinal involvement.…”

“…7 In secondary amyloidosis, known as AA amyloidosis, there is evidence of coexisting disease leading to the production of serum amyloid A protein, an acute phase reactant found in infectious and chronic inflammatory diseases such as rheumatoid arthritis. 5,7,8 The gastrointestinal tract can be affected in 60% of patients with AA amyloidosis, while only 1%-8% of patients with amyloidosis caused by light chain immunoglobulins (AL amyloidosis) have gastrointestinal involvement. 8 The small bowel is the most commonly affected site of amyloid deposition in the gastrointestinal tract.…”

Solitary amyloid tumor of the palate: A case report and literature review

“…In addition, amyloid is an insoluble fibrillar protein that is misfolded, and ultimately, leads to functional disability. 1,2 Accordingly, this metabolic disorder can be categorized into localized and systemic types. Amyloidosis is subdivided by deposited proteins, including immunoglobulin light chain amyloidosis (AL) and serum amyloid A (SAA), as the most prevalent subtypes.…”

Kidney-limited AL amyloidosis: a case report and review of the literature

“…Kidney involvement is typical in systemic AL; however, other organs are almost always affected as well, and it is rare for the kidney to be the only organ in which amyloid is deposited. Kidney involvement in amyloidosis is associated with an increase in morbidity and mortality [1][2][3][4]. We report a patient who initially presented with significant bilateral lower extremity edema and proteinuria and was subsequently diagnosed with renal-limited amyloidosis.…”