MedlinePlus Medical Encyclopedia: Peutz-Jeghers syndrome

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Peutz-Jeghers syndrome

Contents of this page:
Illustrations Definition Causes, incidence, and risk factors Symptoms Signs and tests Treatment	Support Groups Expectations (prognosis) Complications Calling your health care provider Prevention

Illustrations

Digestive system organs

Definition Return to top

Peutz-Jeghers syndrome (PJS) is a disorder characterized by intestinal polyps. In addition, pigmented spots develop from infancy through childhood around the lips, gums, mucous membranes, and skin.

The polyps develop most commonly in the small intestine, but also in the colon. There may be a significant risk of these polyps becoming malignant and thus of patients developing cancer. Some studies link PJS and cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.

There are two types of PJS -- "familial" PJS, which is inherited, and "sporadic" PJS, which displays no hereditary link.

Causes, incidence, and risk factors Return to top

When inherited, Peutz-Jeghers syndrome is transmitted as an autosomal dominant trait. This means that, on average, each child of someone with familial PJS has a 50-50 chance of inheriting PJS.

Symptoms Return to top

A family history of Peutz-Jeghers syndrome
Dark freckles on and around the lips of a newborn
Brownish or bluish-gray pigmented spots on the lips, gums and inner lining of the mouth
Crampy abdominal pain, vomiting
Occasional visible blood in the stool

Signs and tests Return to top

Intestinal polyps
Intussusception (part of the intestine folds in on itself)
Clubbed fingers or toes
Exostoses (benign tumors in the ear)
Anemia

Tests

Genetic testing
X-ray of abdomen to detect intestinal polyps
Stool guaiac (a test for blood in the stool)
Complete blood count (CBC)
Total iron-binding capacity (TIBC) (a blood test)
Polyps biopsy (colonoscopy or flexible sigmoidoscopy)

Treatment Return to top

Surgery may be needed to remove polyps that cause chronic problems. Iron supplements help counteract blood loss.

In addition, the patient should be monitored periodically to watch for malignant changes in polyps. Comprehensive surveillance guidelines can be found at geneclinics.org. A booklet with additional information by Johns Hopkins University is available at hopkins-coloncancer.org.

Support Groups Return to top

Information on support groups can be found at the The Network for Peutz-Jeghers and Juvenile Polyposis Syndrome. An electronic mailing list (discussion group) is available at acor.org.

Expectations (prognosis) Return to top

The outcome varies depending on what problems develop.

Complications Return to top

Intussusception (part if the intestine folds in on itself)
Polyps that lead to cancer
Ovarian cysts
Sex cord tumors

Calling your health care provider Return to top

Call for an appointment with your health care provider if symptoms of this condition are present. Severe abdominal pain indicates a possible emergency condition such as intussusception.

If you are planning to have children and there is a family history of this condition, it may be helpful to talk with your health care provider.

Prevention Return to top

Genetic counseling is recommended for prospective parents with a family history of Peutz-Jeghers syndrome. Genetic counselors can be located through the Cancer Genetics Services Directory.

Update Date: 1/26/2004

Updated by: Sreeni Jonnalagadda, M.D., Interventional and Pancreatobiliary Endoscopy, Washington University School of Medicine, St. Louis, MO. Review provided by VeriMed Healthcare Network.

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