Abstract
The scientific data to guide the management of Peutz–Jeghers syndrome (PJS) are sparse. The available evidence has been reviewed and discussed by diverse medical specialists in the field of PJS to update the previous guideline from 2010 and formulate a revised practical guideline for colleagues managing PJS patients. Methods: Literature searches were performed using MEDLINE, Embase, and Cochrane. Evidence levels and recommendation strengths were assessed using the Grading of Recommendations Assessment, Development and Evaluation (GRADE). A Delphi process was followed, with consensus being reached when ≥80% of the voting guideline committee members agreed. Recommendations and statements: The only recent guidelines available were for gastrointestinal and pancreatic management. These were reviewed and endorsed after confirming that no more recent relevant papers had been published. Literature searches were performed for additional questions and yielded a variable number of relevant papers depending on the subject addressed. Additional recommendations and statements were formulated. Conclusions: A decade on, the evidence base for recommendations remains poor, and collaborative studies are required to provide better data about this rare condition. Within these restrictions, multisystem, clinical management recommendations for PJS have been formulated.
Highlights
Peutz–Jeghers syndrome (PJS) is a rare hereditary condition characterized by mucocutaneous pigmentation and Peutz–Jeghers hamartomatous polyps, predominantlyPeutz–Jeghers syndrome (PJS) is a rare hereditary condition characterized by mucoaffecting the small intestine (Figure 1) [1,2]
If no pathogenic variant in STK11 can be identified in a patient not fulfilling the clinical diagnostic criteria for PJS, the patient should not be considered as having PJS
Van Lier et al performed a questionnaire survey among 52 PJS patients on family planning: in 29%, PJS influenced decisions about family planning, 19% did not want children because of PJS, termination of pregnancy was considered acceptable by 15% and preimplantation genetic diagnosis (PGD) was considered acceptable by 52% [88]
Summary
Peutz–Jeghers syndrome (PJS) is a rare hereditary condition characterized by mucocutaneous pigmentation and Peutz–Jeghers hamartomatous polyps, predominantly. Peutz–Jeghers syndrome (PJS) is a rare hereditary condition characterized by mucoaffecting the small intestine (Figure 1) [1,2]. Cutaneous pigmentation and Peutz–Jeghers hamartomatous polyps, predominantly afJeghers are(Figure shown in Table. Peutz–Jeghers syndrome are showncomplications, in Table 1 [3,4,5]. Including symptomsanaemia, are mostlyand caused by by polyp-related bleeding, obstructive symptoms. Polyp-related including bleeding, anaemia, and obstructive symptoms. In. Small bowelcomplications, intussusception is the most urgent and even life-threatening. Small bowel intussusception is the most urgent and even life-threatening manifestation. PJS patients face an increased risk of a constellation of different cancers
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
