{"title":"Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults.","authors":"Hironori Yamamoto, Hirotsugu Sakamoto, Hideki Kumagai, Takashi Abe, Shingo Ishiguro, Keiichi Uchida, Yuko Kawasaki, Yoshihisa Saida, Yasushi Sano, Yoji Takeuchi, Masahiro Tajika, Takeshi Nakajima, Kouji Banno, Yoko Funasaka, Shinichiro Hori, Tatsuro Yamaguchi, Teruhiko Yoshida, Hideki Ishikawa, Takeo Iwama, Yasushi Okazaki, Yutaka Saito, Nariaki Matsuura, Michihiro Mutoh, Naohiro Tomita, Takashi Akiyama, Toshiki Yamamoto, Hideyuki Ishida, Yoshiko Nakayama","doi":"10.1159/000529799","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Summary: </strong>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.</p><p><strong>Key messages: </strong>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.</p>","PeriodicalId":11315,"journal":{"name":"Digestion","volume":" ","pages":"335-347"},"PeriodicalIF":3.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"3","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Digestion","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000529799","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/4/13 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
引用次数: 3
Abstract
Background: 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.
Summary: 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.
Key messages: 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.
期刊介绍:
''Digestion'' concentrates on clinical research reports: in addition to editorials and reviews, the journal features sections on Stomach/Esophagus, Bowel, Neuro-Gastroenterology, Liver/Bile, Pancreas, Metabolism/Nutrition and Gastrointestinal Oncology. Papers cover physiology in humans, metabolic studies and clinical work on the etiology, diagnosis, and therapy of human diseases. It is thus especially cut out for gastroenterologists employed in hospitals and outpatient units. Moreover, the journal''s coverage of studies on the metabolism and effects of therapeutic drugs carries considerable value for clinicians and investigators beyond the immediate field of gastroenterology.