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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.

 
  • Digestive system organs - illustration

    The digestive system organs in the abdominal cavity include the liver, gallbladder, stomach, small intestine and large intestine.

    Digestive system organs

    illustration

    • Digestive system organs - illustration

      The digestive system organs in the abdominal cavity include the liver, gallbladder, stomach, small intestine and large intestine.

      Digestive system organs

      illustration

    A Closer Look

     

      Talking to your MD

       

        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.

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