Peutz-Jeghers syndrome: data from the Singapore Polyposis Registry and a shifting paradigm in management
Veronique Km Tan1, Poh Koon Koh, Carol Tt Loi
1Department of General Surgery, Singapore General Hospital, Singapore.
Insights
Peutz-Jeghers Syndrome (PJS) patients experience significant gastrointestinal complications and cancer risks. A structured registry-based approach with planned care can improve management and reduce morbidity.
Area of Science:
- Gastroenterology
- Genetics
- Oncology
Background:
- Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyposis.
- Complications include gastrointestinal issues and elevated cancer risks.
Purpose of the Study:
- To identify causes of morbidity in PJS patients registered in Singapore.
- To evaluate current management strategies for PJS.
- To propose a follow-up protocol for PJS care.
Main Methods:
- Reviewed prospectively collected data from the Singapore Polyposis Registry.
- Included patients meeting PJS diagnostic criteria.
- Extracted clinical records and pedigree information.
Main Results:
- Seven unrelated PJS patients were identified.
- Key morbidities included abdominal colic, intestinal obstruction, and GI bleeding, often requiring surgery.
- Management varied, with inconsistencies in cancer screening and genetic counseling.
Conclusions:
- PJS patients face substantial GI complications and cancer risks.
- A shift towards surveillance and comprehensive, protocol-driven care is recommended.
- Polyposis registries are ideal settings for facilitating coordinated PJS management.
Introduction:
Peutz-Jeghers Syndrome (PJS) is an uncommon autosomal dominant hamartomatous polyposis syndrome. Morbidity arises from polyp-related complications and increased risks of malignancy. We report on PJS patients registered in the Singapore Polyposis Registry, identified principal causes of morbidity and appraised current management strategies. A followup protocol based on recent literature has been proposed.
Materials And Methods:
A search of a prospectively collected database in the Singapore Polyposis Registry was made. Only patients who fulfilled the diagnostic criteria of PJS were included. The clinical records were retrieved for review. Information on affected family members was obtained from the Registry's pedigree records.
Results:
Seven unrelated patients fulfilled the criteria of having PJS. Principal causes of morbidity include recurrent bouts of abdominal colic, episodes of intestinal obstruction, gastrointestinal bleeding and the need for repeated laparotomies. Six out of 7 patients had initial presentation with acute intestinal obstruction requiring emergency laparotomy. Management was mostly problem-oriented and marked inter-surgeon variation with regard to cancer screening and genetic counselling was observed.
Conclusion:
Patients with PJS suffer gastrointestinal complications from polyposis and are at increased risks for developing cancers. A move towards surveillance and planned comprehensive care may reduce the morbidity of the condition. A protocol driven approach conducted in the setting of a Polyposis Registry is ideally suited to facilitate such care.
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