Division of Gastroenterology, Department of Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Digestion. 2023;104(5):335-347. doi: 10.1159/000529799. Epub 2023 Apr 13.
Peutz-Jeghers syndrome (PJS) is a rare disease characterized by the presence of hamartomatous polyposis throughout the gastrointestinal tract, except for the esophagus, along with characteristic mucocutaneous pigmentation. It is caused by germline pathogenic variants of the STK11 gene, which exhibit an autosomal dominant mode of inheritance. Some patients with PJS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood and sometimes have serious complications that significantly reduce their quality of life. Hamartomatous polyps in the small bowel may cause bleeding, intestinal obstruction, and intussusception. Novel diagnostic and therapeutic endoscopic procedures such as small-bowel capsule endoscopy and balloon-assisted enteroscopy have been developed in recent years.
Under these circumstances, there is growing concern about the management of PJS in Japan, and there are no practice guidelines available. To address this situation, the guideline committee was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labour and Welfare with specialists from multiple academic societies. The present clinical guidelines explain the principles in the diagnosis and management of PJS together with four clinical questions and corresponding recommendations based on a careful review of the evidence and involved incorporating the concept of the Grading of Recommendations Assessment, Development and Evaluation system.
Herein, we present the English version of the clinical practice guidelines of PJS to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with PJS.
Peutz-Jeghers 综合征（PJS）是一种罕见疾病，其特征为胃肠道（食管除外）存在错构瘤性息肉，同时伴有特征性黏膜皮肤色素沉着。该病由 STK11 基因的种系致病性变异引起，呈常染色体显性遗传模式。部分 PJS 患者在儿童期出现胃肠道病变，需要持续医疗护理直至成年，有时还会出现严重并发症，显著降低其生活质量。小肠的错构瘤性息肉可引起出血、肠梗阻和肠套叠。近年来，已经开发了一些新的诊断和治疗性内镜程序，如小肠胶囊内镜和气囊辅助式小肠镜检查。
鉴于此，人们越来越关注日本 PJS 的管理，目前尚无可用的实践指南。为了解决这一情况，由厚生劳动省授予的罕见和疑难疾病研究小组组织了指南委员会，该委员会由来自多个学术协会的专家组成。本临床指南结合四个临床问题和相应的推荐意见，详细审查了相关证据，并纳入了推荐评估、制定与评价分级系统的概念，共同阐述了 PJS 的诊断和管理原则。
本文呈现了 PJS 的临床实践指南英文版，旨在促进准确诊断和适当管理儿科、青少年和成年 PJS 患者的无缝实施。
