Retrospective Cohort Study
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. May 21, 2024; 30(19): 2523-2537
Published online May 21, 2024. doi: 10.3748/wjg.v30.i19.2523
Clinical manifestations, diagnosis and long-term prognosis of adult autoimmune enteropathy: Experience from Peking Union Medical College Hospital
Mu-Han Li, Ge-Chong Ruan, Wei-Xun Zhou, Xiao-Qing Li, Sheng-Yu Zhang, Yang Chen, Xiao-Yin Bai, Hong Yang, Yu-Jie Zhang, Peng-Yu Zhao, Ji Li, Jing-Nan Li
Mu-Han Li, Ge-Chong Ruan, Xiao-Qing Li, Sheng-Yu Zhang, Yang Chen, Xiao-Yin Bai, Hong Yang, Ji Li, Jing-Nan Li, Department of Gastroenterology, Chinese Academy of Medical Sciences & Peking Union Medical College Hospital, Beijing 100730, China
Wei-Xun Zhou, Department of Pathology, Chinese Academy of Medical Scinences & Peking Union Medical College Hospital, Beijing 100730, China
Yu-Jie Zhang, Department of Pathology, Tianjin First Central Hospital, Nankai University, Tianjin 300192, China
Peng-Yu Zhao, Affairs Office, Chinese Academy of Medical Sciences & Peking Union Medical College Hospital (West campus), Beijing 100032, China
Co-first authors: Mu-Han Li and Ge-Chong Ruan.
Co-corresponding authors: Ji Li and Jing-Nan Li.
Author contributions: Li MH, Ruan GC, Li J and Li JN designed the study; Li MH, Ruan GC, Zhou WX, Li J and Zang YJ acquired and analyzed the data; Li XQ, Zhang SY, Chen Y, Bai XY, and Yang H helped with patient follow-up; Zhao PY contributed to the statistical methodology; Li J and Li JN provided resources and acquired funding; Li MH, Ruan GC, Li J and Li JN wrote and review the paper. During the course of this study, Li MH and Ruan GC made equal contributions across various stages. Their involvement encompassed the design of the study, patient selection, baseline data collection, follow-up via telephone calls and outpatient services, data analysis and drafting of the article, thus leading to shared first authorship; Furthermore, the study also benefited from the substantial contributions of Li J and Li JN. They played equally vital roles in the process of study design, funding support, and article writing and reviewing. These collaborative efforts have been instrumental in shaping the final outcome of this work.
Supported by National High Level Hospital Clinical Research Funding, No. 2022-PUMCH-B-022 and No. 2022-PUMCH-D-002; CAMS Innovation Fund for Medical Sciences, No. 2021-1-I2M- 003; Undergraduate Innovation Program, No. 2023-zglc-06034; and National Key Clinical Specialty Construction Project, No. ZK108000.
Institutional review board statement: This study was approved by the Institutional Review Board of the Peking Union Medical College Hospital (PUMCH) (No. I-23PJ406).
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as potential conflicts of interest.
Data sharing statement: No additional data are available.
STROBE statement: The authors have read the STROBE Statement—checklist of items, and the manuscript was prepared and revised according to the STROBE Statement—checklist of items.
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: Ji Li, MD, Professor, Department of Gastroenterology, Chinese Academy of Medical Sciences & Peking Union Medical College Hospital, No. 1 Shuaifuyuan, Wangfujing, Beijing 100730, China. liji0235@pumch.cn
Received: November 27, 2023
Revised: February 20, 2024
Accepted: April 11, 2024
Published online: May 21, 2024
Abstract
BACKGROUND

Autoimmune enteropathy (AIE) is a rare disease whose diagnosis and long-term prognosis remain challenging, especially for adult AIE patients.

AIM

To improve overall understanding of this disease’s diagnosis and prognosis.

METHODS

We retrospectively analyzed the clinical, endoscopic and histopathological characteristics and prognoses of 16 adult AIE patients in our tertiary medical center between 2011 and 2023, whose diagnosis was based on the 2007 diagnostic criteria.

RESULTS

Diarrhea in AIE patients was characterized by secretory diarrhea. The common endoscopic manifestations were edema, villous blunting and mucosal hyperemia in the duodenum and ileum. Villous blunting (100%), deep crypt lymphocytic infiltration (67%), apoptotic bodies (50%), and mild intraepithelial lymphocytosis (69%) were observed in the duodenal biopsies. Moreover, there were other remarkable abnormalities, including reduced or absent goblet cells (duodenum 94%, ileum 62%), reduced or absent Paneth cells (duodenum 94%, ileum 69%) and neutrophil infiltration (duodenum 100%, ileum 69%). Our patients also fulfilled the 2018 diagnostic criteria but did not match the 2022 diagnostic criteria due to undetectable anti-enterocyte antibodies. All patients received glucocorticoid therapy as the initial medication, of which 14/16 patients achieved a clinical response in 5 (IQR: 3-20) days. Immunosuppressants were administered to 9 patients with indications of steroid dependence (6/9), steroid refractory status (2/9), or intensified maintenance medication (1/9). During the median of 20.5 months of follow-up, 2 patients died from multiple organ failure, and 1 was diagnosed with non-Hodgkin’s lymphoma. The cumulative relapse-free survival rates were 62.5%, 55.6% and 37.0% at 6 months, 12 months and 48 months, respectively.

CONCLUSION

Certain histopathological findings, including a decrease or disappearance of goblet and Paneth cells in intestinal biopsies, might be potential diagnostic criteria for adult AIE. The long-term prognosis is still unsatisfactory despite corticosteroid and immunosuppressant medications, which highlights the need for early diagnosis and novel medications.

Keywords: Autoimmune enteropathy, Clinical manifestations, Diagnostic criteria, Pathological features, Long-term prognosis

Core Tip: Autoimmune enteropathy (AIE) is a rare disease with heterogeneous manifestations and continually evolving diagnostic criteria. In adults, the presence of secretory diarrhea alongside specific histopathological findings can indicate the possibility of AIE. Histopathological features such as decreased goblet and Paneth cells might serve as potential diagnostic criteria. Despite treatment involving corticosteroids and immunosuppressants, long-term prognosis remains unsatisfactory, underscoring the pressing need for early diagnosis and innovative therapeutic approaches.