Peutz–Jeghers Syndrome and Management Recommendations

Dear Editor:We read with great interest the review by Drs Giardiello and Trimbath1Giardiello F.M. Trimbath J.D. Peutz-Jeghers syndrome and management recommendations.Clin Gastroenterol Hepatol. 2006; 4: 408-415Abstract Full Text Full Text PDF PubMed Scopus (323) Google Scholar on the management of Peutz–Jeghers syndrome (PJS). For asymptomatic at-risk individuals, the authors recommended an annual physical examination of first-degree relatives starting at birth; genetic testing by 8 years (when a family mutation is known); small intestinal contrast radiography every 2 years until 25 years of age in those for whom mutation testing is not appropriate; or endoscopy, colonoscopy, and small-bowel radiography at 12, 18, and 24 years. We have reservations regarding these recommendations for the following reasons.Because clinically impenetrant cases of PJS are extremely rare, and only 5%–6% of patients do not have typical perioral pigmentary changes,1Giardiello F.M. Trimbath J.D. Peutz-Jeghers syndrome and management recommendations.Clin Gastroenterol Hepatol. 2006; 4: 408-415Abstract Full Text Full Text PDF PubMed Scopus (323) Google Scholar the risk of unrecognized PJS in a first-degree relative older than 2 years must be extremely small.The retrospective study quoted in support of early genetic testing does not provide any direct evidence for a benefit in outcome in terms of avoiding emergency vs elective laparotomy, even in symptomatic PJS patients. It would be particularly speculative to apply such a recommendation to nonsymptomatic at-risk relatives of affected patients.The psychologic morbidity of clinical or genetic screening,2Tymstra T. False positive results in screening tests: experiences of parents of children screened for congenital hypothyroidism.Fam Pract. 1986; 3: 92-96Crossref PubMed Scopus (50) Google Scholar the risk of cancer from diagnostic radiographs,3Herzog P. Rieger C.T. Risk of cancer from diagnostic X-rays.Lancet. 2004; 363: 340-341Abstract Full Text Full Text PDF PubMed Scopus (38) Google Scholar and the potential morbidity and mortality associated with endoscopic procedures need to be considered carefully before widespread application of the recommendations set out in the article by Giardiello and Trimbath.1Giardiello F.M. Trimbath J.D. Peutz-Jeghers syndrome and management recommendations.Clin Gastroenterol Hepatol. 2006; 4: 408-415Abstract Full Text Full Text PDF PubMed Scopus (323) Google Scholar We would recommend a more circumspect analysis of the risks and benefits of guidelines for screening at-risk but asymptomatic individuals with PJS. Dear Editor: We read with great interest the review by Drs Giardiello and Trimbath1Giardiello F.M. Trimbath J.D. Peutz-Jeghers syndrome and management recommendations.Clin Gastroenterol Hepatol. 2006; 4: 408-415Abstract Full Text Full Text PDF PubMed Scopus (323) Google Scholar on the management of Peutz–Jeghers syndrome (PJS). For asymptomatic at-risk individuals, the authors recommended an annual physical examination of first-degree relatives starting at birth; genetic testing by 8 years (when a family mutation is known); small intestinal contrast radiography every 2 years until 25 years of age in those for whom mutation testing is not appropriate; or endoscopy, colonoscopy, and small-bowel radiography at 12, 18, and 24 years. We have reservations regarding these recommendations for the following reasons. Because clinically impenetrant cases of PJS are extremely rare, and only 5%–6% of patients do not have typical perioral pigmentary changes,1Giardiello F.M. Trimbath J.D. Peutz-Jeghers syndrome and management recommendations.Clin Gastroenterol Hepatol. 2006; 4: 408-415Abstract Full Text Full Text PDF PubMed Scopus (323) Google Scholar the risk of unrecognized PJS in a first-degree relative older than 2 years must be extremely small. The retrospective study quoted in support of early genetic testing does not provide any direct evidence for a benefit in outcome in terms of avoiding emergency vs elective laparotomy, even in symptomatic PJS patients. It would be particularly speculative to apply such a recommendation to nonsymptomatic at-risk relatives of affected patients. The psychologic morbidity of clinical or genetic screening,2Tymstra T. False positive results in screening tests: experiences of parents of children screened for congenital hypothyroidism.Fam Pract. 1986; 3: 92-96Crossref PubMed Scopus (50) Google Scholar the risk of cancer from diagnostic radiographs,3Herzog P. Rieger C.T. Risk of cancer from diagnostic X-rays.Lancet. 2004; 363: 340-341Abstract Full Text Full Text PDF PubMed Scopus (38) Google Scholar and the potential morbidity and mortality associated with endoscopic procedures need to be considered carefully before widespread application of the recommendations set out in the article by Giardiello and Trimbath.1Giardiello F.M. Trimbath J.D. Peutz-Jeghers syndrome and management recommendations.Clin Gastroenterol Hepatol. 2006; 4: 408-415Abstract Full Text Full Text PDF PubMed Scopus (323) Google Scholar We would recommend a more circumspect analysis of the risks and benefits of guidelines for screening at-risk but asymptomatic individuals with PJS. Peutz-Jeghers Syndrome and Management RecommendationsClinical Gastroenterology and HepatologyVol. 4Issue 4PreviewPeutz-Jeghers syndrome (PJS) is an autosomal dominant disease caused by germline mutation of the serine threonine kinase 11 and characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation. Patients with PJS are at increased risk for common and unusual types of gastrointestinal and nongastrointestinal tumors. This review analyzes currently available literature and describes the clinical characteristics of PJS, assesses the risk of malignancy in this disorder, and delineates management and surveillance recommendations for affected individuals. Full-Text PDF ReplyClinical Gastroenterology and HepatologyVol. 4Issue 12PreviewCritical analysis and comments on our article by Drs Bourke, Broderick, and Bohane are appreciated. We presented 2 alternative literature approaches to screening individuals at risk for Peutz–Jeghers syndrome (PJS) for the reader’s consideration. One recommended small-bowel contrast radiography every 2 years until age 25 years. Other authorities suggested upper endoscopy, colonoscopy, and small-bowel series at ages 12, 18, and 24. Both approaches were derived from expert opinion and have latitude for individual physician modification. Full-Text PDF