Wang JY, Liu Y, Xu J, Fan F, You P, Peng T, Liu YL, Chen N. Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene: A case report and review of literature. World J Gastrointest Endosc 2025; 17(12): 112344 [DOI: 10.4253/wjge.v17.i12.112344]
Corresponding Author of This Article
Ning Chen, MD, Chief Physician, Department of Gastroenterology, Peking University People’s Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, China. chenning79@bjmu.edu.cn
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Gastroenterology & Hepatology
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Case Report
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This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
Dec 16, 2025 (publication date) through Dec 19, 2025
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World Journal of Gastrointestinal Endoscopy
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1948-5190
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Wang JY, Liu Y, Xu J, Fan F, You P, Peng T, Liu YL, Chen N. Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene: A case report and review of literature. World J Gastrointest Endosc 2025; 17(12): 112344 [DOI: 10.4253/wjge.v17.i12.112344]
World J Gastrointest Endosc. Dec 16, 2025; 17(12): 112344 Published online Dec 16, 2025. doi: 10.4253/wjge.v17.i12.112344
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene: A case report and review of literature
Jun-Yao Wang, Yun Liu, Jun Xu, Fan Fan, Peng You, Tao Peng, Yu-Lan Liu, Ning Chen
Jun-Yao Wang, Yun Liu, Jun Xu, Fan Fan, Peng You, Tao Peng, Yu-Lan Liu, Ning Chen, Department of Gastroenterology, Peking University People’s Hospital, Beijing 100044, China
Co-first authors: Jun-Yao Wang and Yun Liu.
Author contributions: Wang JY and Liu Y wrote the paper, and they are contributed equally to this manuscript and are co-first authors; Fan F, Peng T, and You P performed gastroduodenoscopy and colonoscopy; Peng T and You P performed enteroscopy; Chen N and Liu YL edited the paper.
Supported by the National Natural Science Foundation of China (General Program), No. 82000493; and Peking University People’s Hospital Scientific Research Development Funds, No. RDJP2023-09.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: Ning Chen, MD, Chief Physician, Department of Gastroenterology, Peking University People’s Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, China. chenning79@bjmu.edu.cn
Received: July 25, 2025 Revised: September 30, 2025 Accepted: November 11, 2025 Published online: December 16, 2025 Processing time: 144 Days and 15.4 Hours
Abstract
BACKGROUND
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 (SLCO2A1) (CEAS) is a rare autosomal recessive hereditary disease characterized by anemia, hypoproteinemia, abdominal pain, diarrhea, and multiple shallow ulcers in the small intestine. Genetic analysis for SLCO2A1 mutations has identified more than 10 variant types, including the mostly reported c.940+1G>A splice site mutation.
CASE SUMMARY
Herein, we described a 33-year-old female patient who was admitted for anemia, edema, and a positive fecal occult blood test, unaccompanied by abdominal pain and diarrhea. She was diagnosed with CEAS due to compound heterozygous variants, c.940+1G>cA (splice-5) and c.1658T>A (p.Ile553Asn) in SLCO2A1, which had not been previously reported. Importantly, we reviewed 132 reported CEAS patients, which showed that anemia (87.3%) and hypoproteinemia (81%) were the most common symptoms. Nearly 25.8% of patients only had a positive result of fecal occult blood, without any symptoms of gastrointestinal bleeding.
CONCLUSION
In conclusion, fecal tests should be repeated in patients with anemia and edema to find clues for chronic enteropathy, including the rare cause-CEAS.
Core Tip: We present a 33-year-old female patient who was admitted for anemia, edema, and a positive fecal occult blood test. She was diagnosed with chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 (SLCO2A1) due to heterozygous mutations, c.1658T>A (p.Ile553Asn) and c.940+1G>A (splice-5) in SLCO2A1, which had not been previously reported. Chronic enteropathy associated with SLCO2A1 should be considered in patients with anemia and edema to avoid inappropriate therapies.
