eMedicine Specialties > Gastroenterology > Systemic Disease

Peutz-Jeghers Syndrome: Differential Diagnoses & Workup

Author: Sandeep Mukherjee, MB, BCh, MPH, FRCPC, Associate Professor, Department of Internal Medicine, Section of Gastroenterology and Hepatology, University of Nebraska Medical Center; Consulting Staff, Section of Gastroenterology and Hepatology, Veteran Affairs Medical Center
Coauthor(s): Andrea Duchini, MD, Assistant Professor of Medicine, Associate Medical Director of Liver Transplantation, Division of Transplantation, Department of Surgery, The Methodist Hospital-Cornell University, Houston; John M Carethers, MD, Professor of Medicine, Chief, Division of Gastroenterology, Department of Medicine, University of California at San Diego
Contributor Information and Disclosures

Updated: Apr 9, 2009

Differential Diagnoses

Bannayan-Riley-Ruvalcaba syndrome
Cronkhite-Canada Syndrome
Familial Adenomatous Polyposis
Gardner Syndrome
Juvenile polyposis syndrome

Other Problems to Be Considered

Basal cell nevus syndrome
Laugier-Hunziker-Baran syndrome
Multiple endocrine neoplasia syndrome 2b
Neurofibromatosis 1

Workup

Laboratory Studies

  • The polyps of Peutz-Jeghers syndrome (PJS) may ulcerate and be a source of blood loss and anemia. Gastrointestinal bleeding may be massive but also microscopic, with subsequent iron deficiency. Cell counts and iron studies should be monitored.
  • The carcinoembryonic antigen (CEA) test has been used by some physicians for screening and monitoring of cancer degeneration.
  • Hemoccult, a type of fecal occult blood test (FOBT), should be performed to check for blood in the stool.

Imaging Studies

  • Enteroclysis study (preferred) and dedicated small bowel follow-through x-rays are used to determine the presence and the location of small intestinal polyps.
    Upper endoscopy image showing multiple gastric po...

    Upper endoscopy image showing multiple gastric polyps.

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    Upper endoscopy image showing multiple gastric po...

    Upper endoscopy image showing multiple gastric polyps.


    Postevacuation image from part of a double-contra...

    Postevacuation image from part of a double-contrast barium enema study in a 47-year-old man presenting with features of small-bowel obstruction. The image shows a coiled-spring appearance in the region of the cecum suggestive of an intussusception. At laparotomy, an ileocecal intussusception was found in association with a carcinoid tumor of the terminal ileum.

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    Postevacuation image from part of a double-contra...

    Postevacuation image from part of a double-contrast barium enema study in a 47-year-old man presenting with features of small-bowel obstruction. The image shows a coiled-spring appearance in the region of the cecum suggestive of an intussusception. At laparotomy, an ileocecal intussusception was found in association with a carcinoid tumor of the terminal ileum.

  • Esophagogastroduodenoscopy (EGD)
  • Colonoscopy
  • Capsule enteroscopy
  • Push enteroscopy, intraoperative enteroscopy, and double-balloon enteroscopy (diagnostic and therapeutic options)
  • Imaging studies of the liver and the pancreas are indicated because of the risk of pancreatic cancer as well as of gallbladder polyps and cancer. These imaging studies may include ultrasonography as well as computed tomography (CT) scanning with pancreatic details or magnetic resonance cholangiopancreatography (MRCP).

Procedures

  • Hemorrhagic or large polyps (>5 mm) should be removed by endoscopic polypectomy to confirm the diagnosis and help control symptoms.
  • Laparotomy and resection should be performed for repeated or persistent small intestinal intussusception, obstruction, or persistent intestinal bleeding.

Histologic Findings

Characteristic histology of Peutz-Jeghers syndrome polyps (PJS) includes extensive smooth muscle arborization throughout the polyp, with the appearance of pseudoinvasion, because some of the epithelial cells, usually from benign glands, are surrounded by the smooth muscle.

Intestinal polypoid adenomas. Tubular adenoma, lo...

Intestinal polypoid adenomas. Tubular adenoma, low-power view. Courtesy of G. Warren, MD, Rose Medical Center, Denver, Colo.

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Intestinal polypoid adenomas. Tubular adenoma, lo...

Intestinal polypoid adenomas. Tubular adenoma, low-power view. Courtesy of G. Warren, MD, Rose Medical Center, Denver, Colo.


More on Peutz-Jeghers Syndrome

Overview: Peutz-Jeghers Syndrome
Differential Diagnoses & Workup: Peutz-Jeghers Syndrome
Treatment & Medication: Peutz-Jeghers Syndrome
Follow-up: Peutz-Jeghers Syndrome
Multimedia: Peutz-Jeghers Syndrome
References
Further Reading
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References

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Further Reading

Best Evidence

Clinical Trials

National Guidelines Clearinghouse



 

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Keywords

Peutz-Jeghers syndrome, PJS, colon polyps, intestinal polyps, intestinal polyposis, hamartomatous intestinal polyposis, polyps-and-spots syndrome, perioral lentiginosis, hamartomatous polyps in association with mucocutaneous melanocytic macules, cancer of the GI tract, intestinal polyps, STK11 gene mutation, STK11/LKB1 gene mutation, serine/threonine kinase 11 gene, gastrointestinal polyps, GI polyps, hamartomas, intestinal lesions, intestinal cancer

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Contributor Information and Disclosures

Author

Sandeep Mukherjee, MB, BCh, MPH, FRCPC, Associate Professor, Department of Internal Medicine, Section of Gastroenterology and Hepatology, University of Nebraska Medical Center; Consulting Staff, Section of Gastroenterology and Hepatology, Veteran Affairs Medical Center
Sandeep Mukherjee, MB, BCh, MPH, FRCPC is a member of the following medical societies: Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Coauthor(s)

Andrea Duchini, MD, Assistant Professor of Medicine, Associate Medical Director of Liver Transplantation, Division of Transplantation, Department of Surgery, The Methodist Hospital-Cornell University, Houston
Andrea Duchini, MD is a member of the following medical societies: American College of Physicians, American Gastroenterological Association, American Society for Gastrointestinal Endoscopy, and International Liver Transplantation Society
Disclosure: Nothing to disclose.

John M Carethers, MD, Professor of Medicine, Chief, Division of Gastroenterology, Department of Medicine, University of California at San Diego
John M Carethers, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for Cancer Research, American College of Gastroenterology, American College of Physicians, and American Gastroenterological Association
Disclosure: Nothing to disclose.

Medical Editor

Robert J Fingerote, MD, MSc, BSc, FRCPC, Consultant, Clinical Evaluation Division, Biologic and Gene Therapies, Directorate Health Canada; Consulting Staff, Department of Medicine, Division of Gastroenterology, York Central Hospital, Richmond Hill, Ontario
Robert J Fingerote, MD, MSc, BSc, FRCPC is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, Canadian Medical Association, Ontario Medical Association, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Noel Williams, MD, Professor Emeritus, Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada; Professor, Department of Internal Medicine, Division of Gastroenterology, University of Alberta, Edmonton, Alberta, Canada
Noel Williams, MD is a member of the following medical societies: Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

CME Editor

Alex J Mechaber, MD, FACP, Associate Dean for Undergraduate Medical Education, Associate Professor of Medicine, University of Miami Miller School of Medicine
Alex J Mechaber, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, and Society of General Internal Medicine
Disclosure: Nothing to disclose.

Chief Editor

Julian Katz, MD, Clinical Professor of Medicine, Drexel University College of Medicine; Consulting Staff, Department of Medicine, Section of Gastroenterology and Hepatology, Hospital of the Medical College of Pennsylvania
Julian Katz, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Geriatrics Society, American Medical Association, American Society for Gastrointestinal Endoscopy, American Society of Law Medicine and Ethics, American Trauma Society, Association of American Medical Colleges, and Physicians for Social Responsibility
Disclosure: Nothing to disclose.

 
 
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