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©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Surg. Mar 27, 2024; 16(3): 932-943
Published online Mar 27, 2024. doi: 10.4240/wjgs.v16.i3.932
Link between mutations in ACVRL1 and PLA2G4A genes and chronic intestinal ulcers: A case report and review of literature
Yong-Jing Tang, Jian Zhang, Jie Wang, Ren-Dong Tian, Wei-Wei Zhong, Ben-Sheng Yao, Bing-Yu Hou, Ying-Hua Chen, Wei He, Yi-Huai He
Yong-Jing Tang, Ren-Dong Tian, Ying-Hua Chen, Wei He, Yi-Huai He, Department of Infectious Diseases, The Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou Province, China
Jian Zhang, Bing-Yu Hou, Department of Gastroenterology, Dafang County People's Hospital, Bijie 551600, Guizhou Province, China
Jie Wang, Department of Internal Medicine, Puchang Branch, Medical Community, Suiyang County People's Hospital, Zunyi 563300, Guizhou Province, China
Wei-Wei Zhong, Department of Infectious Diseases, Jingmen Central Hospital, Jingmen 448000, Hubei Province, China
Ben-Sheng Yao, Department of Infectious Diseases, Dafang County People's Hospital, Bijie 551600, Guizhou Province, China
Author contributions: Tang YJ and Zhang J contributed equally to this work; He YH, Tang YJ, Wang J, and Chen YH contributed to the conceptualization; Zhang J, Tian RD, Hou BY, Zhong WW, and Chen YH contributed to the data curation; Yao BS, Wang J, He W, and Zhong WW contributed to the investigation; Tang YJ, Zhang J, and Wang J contributed to the writing - original draft; He YH contributed to the writing - review & editing; all authors read and approved the final version of the manuscript.
Supported by the Science and Technology Research Foundation of Guizhou Province, No. QKHJC-ZK[2022]YB642; Science and Technology Research Foundation of Hubei Province, No. 2022BCE030; Science and Technology Research Foundation of Zunyi City, No. ZSKH-HZ(2022)344; Research Project on Traditional Chinese Medicine and Ethnic Medicine Science and Technology of Guizhou Provincial Administration of Traditional Chinese Medicine, No. QZYY-2023-021; and Science and Technology Research Foundation of Bijie City, No. BKH[2022]8.
Informed consent statement: Written informed consent was obtained from the patient for the publication of images and data included in this article.
Conflict-of-interest statement: The authors declare that 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: Yi-Huai He, MD, Director, Department of Infectious Diseases, The Affiliated Hospital of Zunyi Medical University, No. 149 Dalian Road, Zunyi 563000, Guizhou Province, China.
993565989@qq.com
Received: November 6, 2023
Peer-review started: November 6, 2023
First decision: December 6, 2023
Revised: December 29, 2023
Accepted: February 23, 2024
Article in press: February 23, 2024
Published online: March 27, 2024
Processing time: 137 Days and 7.7 Hours
BACKGROUND
Genetic factors of chronic intestinal ulcers are increasingly garnering attention. We present a case of chronic intestinal ulcers and bleeding associated with mutations of the activin A receptor type II-like 1 (ACVRL1) and phospholipase A2 group IVA (PLA2G4A) genes and review the available relevant literature.
CASE SUMMARY
A 20-year-old man was admitted to our center with a 6-year history of recurrent abdominal pain, diarrhea, and dark stools. At the onset 6 years ago, the patient had received treatment at a local hospital for abdominal pain persisting for 7 d, under the diagnosis of diffuse peritonitis, acute gangrenous appendicitis with perforation, adhesive intestinal obstruction, and pelvic abscess. The surgical treatment included exploratory laparotomy, appendectomy, intestinal adhesiolysis, and pelvic abscess removal. The patient’s condition improved and he was discharged. However, the recurrent episodes of abdominal pain and passage of black stools started again one year after discharge. On the basis of these features and results of subsequent colonoscopy, the clinical diagnosis was established as inflammatory bowel disease (IBD). Accordingly, aminosalicylic acid, immunotherapy, and related symptomatic treatment were administered, but the symptoms of the patient did not improve significantly. Further investigations revealed mutations in the ACVRL1 and PLA2G4A genes. ACVRL1 and PLA2G4A are involved in angiogenesis and coagulation, respectively. This suggests that the chronic intestinal ulcers and bleeding in this case may be linked to mutations in the ACVRL1 and PLA2G4A genes. Oral Kangfuxin liquid was administered to promote healing of the intestinal mucosa and effectively manage clinical symptoms.
CONCLUSION
Mutations in the ACVRL1 and PLA2G4A genes may be one of the causes of chronic intestinal ulcers and bleeding in IBD. Orally administered Kangfuxin liquid may have therapeutic potential.
Core Tip: We present a case of chronic intestinal ulcers and bleeding associated with mutations of the activin A receptor type II-like 1 (ACVRL1) and phospholipase A2 group IVA (PLA2G4A) genes. The patient’s symptoms started at an early age, with the first manifestation being acute gangrenous appendicitis with perforation. However, the patient experienced recurrent abdominal pain and bloody stools one year after surgery. After colonoscopy and intestinal mucosal pathological examination, the diagnosis was established as inflammatory bowel disease without the characteristic features of Crohn's disease or ulcerative colitis. Aminosalicylic acid and immunotherapy were not sufficiently effective. Further investigations revealed mutations in the ACVRL1 and PLA2G4A genes. From these observations, we inferred that these mutations may be linked to chronic intestinal ulcers and bleeding. Kangfuxin liquid appears to be promising in terms of therapeutic potential in this type of chronic intestinal ulcers.
