A Rare Cause of Intestinal Pseudo-obstruction: Gastrointestinal Amyloid

Abstract

Amyloidosis is characterized by extracellular deposition of the amyloid protein. It can affect multiple organ systems but it most commonly affects the heart, kidney and gastrointestinal (GI) tract. It can occur sporadically or in association with other conditions like multiple myeloma, chronic inflammatory diseases, infections etc. Its involvement of the gastrointestinal tract is rare and diffuse. It has variable manifestations in GI tract from involving the stomach to the large bowel including liver. We present a case of 55 year old Caucasian male with recent diagnosis of multiple myeloma who presented with recurrent episodes of small bowel obstruction which was later found to be caused by amyloid deposition.

Chronic intestinal pseudo‐obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments

“…For the diagnosis of amyloidosis, Bence-Jones protein can be detected on urine and serum immunoelectrophoretic and amyloid on histological examination of gastric or rectal mucosa or peri-umbilical skin fat biopsies with Congo red staining. [48][49][50] The familial visceral form of amyloidosis is a hereditary generalized amyloidosis in which viscera are particularly affected. It is caused by autosomal dominant mutations in the apolipoprotein A1 gene (APOA1), in the fibrinogen alpha-chain gene (FGA), or in the lysozyme gene (LYZ).…”

“…Autonomic dysfunction should suggest multisystem atrophy in patients with parkinsonism who are less responsive to levodopa, and in patients with cerebellar ataxia 47 or amyloidosis, since amyloid infiltrates both the intestinal mucosa and neuromuscular structures and extrinsic autonomic peripheral nerves. For the diagnosis of amyloidosis, Bence‐Jones protein can be detected on urine and serum immunoelectrophoretic and amyloid on histological examination of gastric or rectal mucosa or peri‐umbilical skin fat biopsies with Congo red staining 48–50 . The familial visceral form of amyloidosis is a hereditary generalized amyloidosis in which viscera are particularly affected.…”