A family survey of Peutz-Jeghers syndrome

Objective To assess the clinical featmes of Peutz-Jeghers syndrome （PJS） and the significance of family survey. Methods Data of PJS patients and high risk relatives from 15 pedigrees, including clinical manifestations and endoscopic findings, were retrospectively studied. The diagnosed PJS patients were treated endoscopically or surgically and were followed up annually with gastroscopy, colonoscopy, barium swallow, abdominal uhrasonography and chest X-ray. Results A total of 63 relatives of 15 PJS patients were screened and 34 new patients were confirmed by endoscopy, among whom, 18 patients had symptoms other than scattered pigmentation around lips and finger tips. Adenocarcinoma was accompanied in 5 patients, locating at stomach, small intestine, colon, cervix and lymph node at left neck, respectively. Conclusion PJS patient has no characteristic manifestation at its early stage. It is important to ean＇y out family survey to screen potential malignancy. Key words: Peutz-Jeghers syndrome;  Family survey;  Early diagnosis