Click here to return to the LMHS Home Page

 

Print-Friendly
Bookmarks

Peutz-Jeghers syndrome

PJS

 

Peutz-Jeghers syndrome (PJS) is a disorder in which growths called polyps form in the intestines. It is passed down through families (inherited). A person with PJS has a high risk of developing certain cancers.

Causes

 

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

There are 2 types of PJS:

  • Familial PJS may be due to a mutation in a gene called STK11. The genetic defect can be inherited through families as an autosomal dominant trait. That means if 1 of your parents has this type of PJS, you have a 50% chance of inheriting the gene and having the disease.
  • Sporadic PJS is not passed down through families and appears unrelated to an STK11 gene mutation.

 

Symptoms

 

Symptoms of PJS are:

  • Brownish or bluish-gray 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 (sometimes)
  • Vomiting

 

Exams and Tests

 

The polyps develop mainly in the small intestine, but also in the large intestine (colon). An exam of the colon called a colonoscopy will show colon polyps. The small intestine is evaluated in 2 ways. One is a barium x-ray (small bowel series). The other is a capsule endoscopy, in which a small camera is swallowed and then takes many pictures as it travels through the small intestine.

Additional exams may show:

  • Part of the intestine folded in on itself (intussusception)
  • Benign (noncancerous) tumors in the ear

Laboratory tests may include:

  • Complete blood count -- may reveal anemia
  • Genetic testing
  • Stool guaiac, to look for blood in stool
  • Total iron-binding capacity (TIBC) -- may be linked with iron-deficiency anemia

 

Treatment

 

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

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

 

Outlook (Prognosis)

 

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

 

Possible Complications

 

Complications may include:

  • Intussusception
  • Polyps that lead to cancer
  • Ovarian cysts
  • A type of ovarian tumors called sex cord tumors

 

When to Contact a Medical Professional

 

Call for an appointment with your provider if you or your baby has 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

Donoghue LJ. Tumors of the digestive tract. In: Kliegman RM, Stanton BF, St. Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 345.

McGarrity TJ, Amos CI, Frazier ML, Wei C. Peutz-Jeghers syndrome. GeneReviews. Seattle, WA: University of Washington; 2013:7. www.ncbi.nlm.nih.gov/books/NBK1266/ Accessed October 27, 2015.

BACK TO TOPText only

 
  • Digestive system organs

    Digestive system organs

    illustration

    • Digestive system organs

      Digestive system organs

      illustration

    A Closer Look

     

      Self Care

       

        Tests for Peutz-Jeghers syndrome

         
           

          Review Date: 10/27/2015

          Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

          The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
          adam.com

           
           
           

           

           

          A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.