Peutz-Jeghers syndrome screening

Overview
Peutz-Jeghers, also known as Hereditary Intestinal Polyposis Syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract.

Screening
Screening includes upper GI endoscopy, enteroclysis, and colonoscopy to check for the locations of the hamartomas. To check for cancerous lesions, endoscopic ultrasound, testicular ultrasound and imaging studies of the liver and the pancreas are indicated because of the risk of pancreatic cancer as well as gallbladder polyps and cancer. These imaging studies may include ultrasonography as well as CT with pancreatic details or magnetic resonance cholangiopancreatography (MRCP).

In addition, an annual physical examination that includes evaluation of the breasts, abdomen, pelvis, and testes should be done by a physician. An annual complete blood count to check for anemia should be done. If bleeding is found, removal of hemorrhagic or large polyps (>5 mm) by endoscopic polypectomy should be performed.

Some suggestions for surveillance for cancer include the following: Small intestine with small bowel radiography every 2 years, Esophagogastroduodenoscopy and colonoscopy every 2 years, Ultrasound of the pancreas yearly, Ultrasound of the pelvis (women) and testes (men) yearly, Mammography (women) at ages 25, 30, 35, and 38 years, then every 2 years until age 50 years, then annually, and Papanicolaou (Pap) test every year

Follow-up care should be supervised by a gastroenterologist familiar with Peutz-Jeghers syndrome. Genetic consultation and counseling as well as urological and gynecological consultations are required in the management of these patients.