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Peutz-Jeghers Syndrome: An outline on Diagnosis and Management
Mithun Nariampalli Karthyarth1, Hemanga Kumar Bhattacharjee1, Ankur Goyal2, Saurabh Kedia3, Asit Ranjan Mridha4, Rajinder Parshad1
1Department of Surgical Disciplines, 2Department of Radio-diagnosis, 3Department of Gastroenterology and Human Nutrition, 4Department of Pathology, All India Institute of Medical Sciences, New Delhi, India. 

Corresponding Author
Dr Hemanga Kumar Bhattacharjee


Peutz-Jeghers Syndrome (PJS) is a rare inherited autosomal dominant disorder characterized by pigmented mucocutaneous melanotic macules and hamartomatous polyps. PJS arises due to mutations in STK11 gene located on chromosome 19q 13.3 and predisposes the patients to a multitude of malignancies with an estimated cumulative risk of 81% - 93%. Breast, gastrointestinal tract, pancreas, reproductive system  and lung are common sites of development of malignancies in these patients. Anemia, rectal bleeding, abdominal pain, obstruction and intussusception are the usual complications in patients with PJS leading to multiple interventions. Upper GI endoscopy and Double Balloon Enteroscopy (DBE) allows screening of the gastrointestinal tract. Polypectomy of hamartomas more than 1 cm carried out at the time of surveillance endoscopy, abates the complications like bleeding, obstruction and intussusception. When DBE is not feasible, intraoperative endoscopy (IOE) is helpful to evaluate the entire gastrointestinal tract during surgery. IOE  is also crucial for removal of all small intestinal polyps. Imaging techniques like magnetic resonance enterography and computed tomography enterography and video capsule endoscopy are non-invasive options for evaluation and screening in these patients. Sixty eight percent of the patients require emergency surgery during their lifetime. Regular cancer screening protocols should be instituted for early detection of malignancies. Genetic counseling and screening of other first degree family members helps in their preemptive identification and management. Chemoprevention using mTOR inhibitors, COX-2 inhibitors could be helpful in polyp reduction.