Health Encyclopedia

Peutz-Jeghers syndrome

Definition

Peutz-Jeghers syndrome (PJS) is a disorder often passed down through families (inherited) in which the person develops intestinal polyps and is at a significantly higher risk for developing certain cancers.

Alternative Names

PJS

Causes, incidence, and risk factors

It is unknown how many people are affected by PJS. However, the National Institutes of Health estimate that it affects about 1 in 25,000 to 300,000 births.

There are two types of PJS:

Familial PJS is due to a mutation in a gene called STK11. The genetic defect is passed down (inherited) through families as an autosomal dominant trait. That means if one of your parents have this type of PJS, you have a 50-50 chance of inheriting the bad gene.
Sporadic PJS is not passed down through families and appears unrelated to the STK11 gene mutation.

Symptoms

Brownish or bluish-gray pigmented spots on the lips, gums, inner lining of the mouth, and skin
Clubbed fingers or toes
Cramping pain in the belly area
Dark freckles on and around the lips of a newborn
Blood in the stool that can be seen with the naked eye (occasionally)
Vomiting

Signs and tests

A colonoscopy or flexible sigmoidoscopy shows intestinal polyps. The polyps develop most commonly in the small intestine, but also in the colon. An x-ray of the abdomen may also show polyps.

Additional exams may show:

Intussusception (part of the intestine folds in on itself)
Noncancerous tumors in the ear (exostoses)

Laboratory tests may include:

Complete blood count - may reveal anemia
Genetic testing
Stool guaiac
Total iron-binding capacity (TIBC)

Treatment

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

Persons with this condition should be monitored by a health care provider and be checked periodically for cancerous polyp changes.

Expectations (prognosis)

There may be a significant risk of these polyps becoming cancerous. Some studies link PJS and cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.

Complications

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

Calling your health care provider

Call for an appointment with your health care provider if you or your baby have symptoms of this condition. Severe abdominal pain may be a sign of an emergency condition such as intussusception.

Prevention

Genetic counseling is recommended if you are planning to have children and have a family history of this condition.

References

Goldman L, Ausiello D. Cecil Textbook of Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007.

Review Date:11/13/2007
Reviewed By:Christian Stone, M.D., Division of Gastroenterology, Washington University in St. Louis School of Medicine, St. Louis, MO. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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