Observational Study
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Surg. May 27, 2025; 17(5): 103194
Published online May 27, 2025. doi: 10.4240/wjgs.v17.i5.103194
Natural surgical risks and age distribution in Chinese patients with Peutz-Jeghers syndrome: Real-world research based on a web survey
Nian-Jun Xiao, Su Liu, Zhe-Yi Han, Tong-Zhen Zhang, Zhi-Meng Jiang, Tao Sun, Jing Zhang, Lei Wang, Shou-Bin Ning, Wen Li
Nian-Jun Xiao, Wen Li, Chinese PLA Medical School, The First Medical Center, Chinese PLA General Hospital, Beijing 100853, China
Nian-Jun Xiao, Wen Li, Department of Gastroenterology and Hepatology, The First Medical Center, Chinese PLA General Hospital, Beijing 100853, China
Nian-Jun Xiao, Zhe-Yi Han, Tong-Zhen Zhang, Zhi-Meng Jiang, Tao Sun, Jing Zhang, Lei Wang, Shou-Bin Ning, Department of Gastroenterology, Air Force Medical Center, Beijing 100142, China
Su Liu, Department of Internal Medicine, Beijing Daxing District Hospital of Integrated Chinese and Western Medicine, Beijing 100076, China
Wen Li, Minimally Invasive Digestive Disease Center, Beijing United Family Hospital, Beijing 100015, China
Co-first authors: Nian-Jun Xiao and Su Liu.
Co-corresponding authors: Shou-Bin Ning and Wen Li.
Author contributions: Xiao NJ, Liu S, Ning SB, and Li W contributed to the conceptualization; Xiao NJ and Liu S contributed to the questionnaire design and statistical analysis; Xiao NJ, Liu S, Han ZY, Zhang TZ, Jiang ZM, Sun T, Zhang J, Wang L, Ning SB, and Li W contributed to the data collection; Xiao NJ wrote the original draft; Xiao NJ, Liu S, and Li W revised the manuscript; Xiao NJ, Han ZY, Ning SB, and Li W contributed to fundraising and project management; all authors gave final approval of the version to be published and agreed to take responsibility for all aspects of the work to ensure that questions about the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Institutional review board statement: The study was approved by the Ethics Committee of the Air Force Medical Center (2024-09-PJ01).
Informed consent statement: At the beginning of the questionnaire, respondents were presented with two options: First, to agree to complete the questionnaire and provide truthful information, and second, to decline to complete the questionnaire. Those who choose the first option are deemed to consent to this study and proceed to the questionnaire. Individuals under the age of 14 were required to have a guardian to assist them in completing the questionnaire. The requirement for written informed consent was waived for individual or guardian participants.
Conflict-of-interest statement: All the authors declare that they have no competing interests to disclose.
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.
Data sharing statement: The survey is available on the Tencent platform (https://wj.qq.com/s2/12100978/3a07/, Chinese version). Please be advised that the survey is currently unavailable as the data have been collected. Nevertheless, the questionnaire will remain accessible for the purposes of viewing and testing. The datasets employed in the present study, together with the associated analytical results, are available from the first author upon reasonable request.
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: Wen Li, MD, PhD, Chief Physician, Professor, Chinese PLA Medical School, The First Medical Center, Chinese PLA General Hospital, No. 28 Fuxing Road, Haidian District, Beijing 100853, China. wen.li@ufh.com.cn
Received: November 13, 2024
Revised: March 13, 2025
Accepted: April 15, 2025
Published online: May 27, 2025
Processing time: 192 Days and 0.3 Hours
Abstract
BACKGROUND

Complications arising from the polyps in Peutz-Jeghers syndrome (PJS) have historically been addressed through surgical treatment. Enteroscopic polypectomy is hypothesized to reduce the risk of surgery in PJS. However, the optimal timing for polyp screening and preventive intervention using enteroscopic polypectomy remains uncertain. This is primarily due to the extremely low incidence of the condition and the paucity of data regarding the natural risk of requiring surgery and its age distribution in PJS patients. In order to develop recommendations on the appropriate timing of polyp screening and preventive intervention in PJS, a comprehensive understanding of the natural surgical risks and their age distribution is essential.

AIM

To investigate the natural surgical risks associated with polyps in PJS and to clarify their age distribution.

METHODS

A web-based open survey was launched to collect information from Chinese individuals suspected of having PJS. The questionnaire was distributed to the PJS instant messaging groups using a quick response code method. The data were analyzed using descriptive statistical methods, and the cumulative incidence of surgery was calculated using the Kaplan-Meier method.

RESULTS

Of the 442 patients enrolled, 301 (68.10%) had undergone 506 surgical procedures prior to enteroscopy or the survey deadline. Among the 506 surgical procedures, 388 (76.68%) were performed on patients aged between 6 and 25 years. The cumulative incidence rates of the first surgical procedure at 5, 10, 15, 20, 25, and 30 years of age were 5.0% (95% confidence interval [CI]: 2.9%-7.0%), 20.6% (95%CI: 16.6%-24.4%), 40.5% (95%CI: 35.5%-45.1%), 58.0% (95%CI: 52.7%-62.7%), 72.6% (95%CI: 67.3%-77.0%), and 82.4% (95%CI: 77.0%-86.5%), respectively. The primary indications for the first surgical procedures were intussusception (81.40%), obstruction (13.95%), and gastrointestinal bleeding (4.65%). The cumulative incidence rates of requiring a second surgical procedure within 1, 3, 5, 10 and 15 years following the first surgical procedure were 3.7% (95%CI: 1.5%-5.8%), 12.5% (95%CI: 8.6%-16.2%), 20.3% (95%CI: 15.6%-24.8%), 37.0% (95%CI: 33.1%-45.3%), 54.2% (95%CI: 46.8%-60.5%), respectively. Patients who underwent their first surgical procedure at the age of nine years or younger presented an elevated risk of requiring a second surgical procedure (P < 0.01).

CONCLUSION

Chinese patients with PJS have a high natural risk of undergoing surgery. Without preventive intervention, these procedures may become necessary at an early age and may be repeated. Early screening and regular surveillance, with preventive intervention if necessary, should commence at six years of age.

Keywords: Peutz-Jeghers syndrome; Web surveys; Intussusception; Balloon-assisted enteroscopy; Cumulative risk; Mucocutaneous pigmentation; Hamartomatous polyps

Core Tip: Peutz-Jeghers syndrome (PJS) is a rare disorder characterized by the presence of multiple intestinal polyps, which can lead to intussusception and often require surgery. Screening and preventive intervention for polyps in PJS may reduce the need for surgery. However, most guidelines regarding screening for polyps in PJS are based on expert opinion. This large sample survey demonstrated that patients with PJS exhibit markedly elevated natural surgical risks, particularly between the ages of 6 and 25 years. In light of these findings, we recommend that screening, surveillance, and preventive interventions if indicated, should commence at six years of age. We posit that our strategy based on natural surgical risk is more cost-effective and represents an optimal balance between preventing polyp-related complications and avoiding over-screening.