Peutz-Jeghers syndrome (patient information)
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]
Overview
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.
What are the symptoms of Peutz-Jeghers syndrome?
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
What causes Peutz-Jeghers syndrome?
- 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.
Who is at highest risk?
When to seek urgent medical care?
- 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.
Diagnosis
- 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 options
- 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.
Where to find medical care for Peutz-Jeghers syndrome?
Directions to Hospitals Treating Peutz-Jeghers syndrome
What to expect (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
Sources
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.