Peutz-Jeghers syndrome: data from the Singapore Polyposis Registry and a shifting paradigm in management.
BACKGROUND
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.


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.


CONCLUSIONS
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.
Tan
Veronique Km
VK
Department of General Surgery, Singapore General Hospital, Singapore.
Koh
Poh Koon
PK
Loi
Carol Tt
CT
Eu
Kong Weng
KW
Tang
Choong Leong
CL
D000293:Adolescent; D000328:Adult; D002648:Child; D015331:Cohort Studies; D019091:Critical Pathways; D019468:Disease Management; D005260:Female; D005767:Gastrointestinal Diseases / Q000150:complications* / Q000453:epidemiology; D006801:Humans; D008297:Male; D010580:Peutz-Jeghers Syndrome / Q000150:complications* / Q000628:therapy; D011159:Population Surveillance; D015995:Prevalence; D012042:Registries; D012846:Singapore / Q000453:epidemiology; D055815:Young Adult