Published online Oct 6, 2022. doi: 10.12998/wjcc.v10.i28.10252
Peer-review started: April 29, 2022
First decision: May 11, 2022
Revised: May 31, 2022
Accepted: August 5, 2022
Article in press: August 5, 2022
Published online: October 6, 2022
Processing time: 150 Days and 17 Hours
Amyloidosis is a rare disease characterized by extracellular deposition of misfolded protein aggregated into insoluble fibrils. Gastrointestinal involvement in systemic amyloidosis is common, but is often subclinical or presents as vague and nonspecific symptoms. It is rare for gastrointestinal symptoms to be the main presenting symptom in patients with systemic amyloidosis, causing it to be undiagnosed until late-stage disease.
A 53 year-old man with diarrhea, hematochezia, and weight loss presented to a community hospital. Colonoscopy with biopsy at that time was suspicious for Crohn disease. Due to worsening symptoms including nausea, vomiting, and a new petechial rash, an abdominal fat pad biopsy was done. The biopsy showed papillary and adnexal dermal amyloid deposition, in a pattern usually seen with cutaneous amyloidosis. However, Cytokeratin 5/6 was negative, excluding cutaneous amyloidosis. The patterns of nodular amyloidosis, subcutaneous amyloid deposits and perivascular amyloid were not seen. Periodic Acid-Schiff stain was negative for lipoid proteinosis, Congo red was positive for apple green birefringence on polarization and amyloid typing confirmed amyloid light chain amyloidosis. Repeat endoscopic biopsies of the gastrointestinal tract showed amyloid deposition from the esophagus to the rectum, in a pattern usually seen in serum amyloid A in the setting of chronic inflammatory diseases, including severe inflammatory bowel disease. Bone marrow biopsy showed kappa-restricted plasma cell neoplasm.
Described is an unusual presentation of primary systemic amyloidosis, highlighting the risk of misdiagnosis with subsequent significant organ dysfunction and high mortality.
Core Tip: Gastrointestinal involvement in systemic amyloid light (AL) amyloidosis is rare, and symptoms are usually subclinical. Diarrhea and hematochezia have rarely been the primary presenting symptom of AL amyloidosis. It is critically important to diagnose and treat amyloidosis early to prevent severe morbidity and mortality.