Peutz-Jeghers syndrome (patient information)

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.

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

• It is not known how many people are affected by PJS.
• 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.

• People with genetic mutations are at highest risk such as BRCA 1 or BRCA 2 mutations

• 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.

• 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

• 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.

Directions to Hospitals Treating Peutz-Jeghers syndrome

• 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:

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

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.