Peutz-Jeghers syndrome (PJS) is a rare disorder in which growths called polyps form in the intestines. A person with PJS has a high risk of developing certain cancers.
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.
PJS is caused by a mutation in the gene called STK11 (previously known as LKB1). There are two ways that PJS can be inherited:
Symptoms of PJS are:
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 two 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:
Laboratory tests may include:
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.
The following resources can provide more information on PJS:
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.
Complications may include:
Call for an appointment with your provider if you or your child has symptoms of this condition. Severe abdominal pain may be a sign of an emergency condition such as intussusception.
Genetic counseling is recommended if you are planning to have children and have a family history of this condition.
McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: University of Washington. www.ncbi.nlm.nih.gov/books/NBK1266. Updated July 14, 2016. Accessed November 5, 2019.
Wendel D, Murray KF. Tumors of the digestive tract. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 372.BACK TO TOP
Review Date: 10/3/2019
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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