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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
Persistent diarrhea with petechial rash - unusual pattern of light chain amyloidosis deposition on skin and gastrointestinal biopsies: A case report
Shawna E Bilton, Nikhil Shah, Diana Dougherty, Sarah Simpson, Alex Holliday, Farhad Sahebjam, Douglas J Grider
Shawna E Bilton, Farhad Sahebjam, Douglas J Grider, Department of Basic Science Education, Virginia Tech Carilion School of Medicine, Roanoke, VA 24016, United States
Nikhil Shah, Department of Internal Medicine, Carilion Clinic, Roanoke, VA 24016, United States
Diana Dougherty, Farhad Sahebjam, Gastroenterology and Hepatology Section, Department of Internal Medicine, Carilion Clinic, Roanoke, VA 24016, United States
Sarah Simpson, Alex Holliday, Dermatology Section, Department of Internal Medicine, Carilion Clinic, Roanoke, VA 24016, United States
Douglas J Grider, Pathology, Dominion Pathology Associates, Roanoke, VA 24018, United States
Author contributions: Bilton SE and Shah N reviewed the literature and contributed to the manuscript drafting; Sahebjam F and Dougherty D performed gastroenterology consultation; Sahebjam F performed endoscopy with biopsy; Simpson S and Holliday A performed dermatology consultation and skin biopsy; Grider DJ performed pathology consultation, pathology interpretation, reviewed literature, and contributed to manuscript drafting; all authors reviewed the manuscript, provided edits, and issued final approval for the version to be submitted.
Informed consent statement: A written informed consent was obtained from the patient for publication of this case report.
Conflict-of-interest statement: The authors declare they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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:
https://creativecommons.org/Licenses/by-nc/4.0/ Corresponding author: Shawna E Bilton, BSc, Department of Basic Science Education, Virginia Tech Carilion School of Medicine, 2 Riverside Circle, Roanoke, VA 24016, United States. sbilton@vt.edu
Received: April 29, 2022
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
BACKGROUND
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.
CASE SUMMARY
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.
CONCLUSION
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.
