What Is Peutz-Jeghers Syndrome?
Peutz-Jeghers syndrome (PJS) is a rare inherited condition that affects the digestive system and increases the risk of certain cancers. People with PJS often develop small growths called polyps in the stomach or intestines.
Peutz-Jeghers syndrome is caused by changes in the STK11 gene. The condition is usually inherited from a parent, though some people develop the mutation without a family history.
The condition is also known for causing dark-colored spots on the lips, mouth, fingers, or other areas of the skin. Symptoms often begin during childhood.
Symptoms
PJS can affect people differently, but symptoms commonly involve the digestive tract and skin.
Common signs and symptoms include:
- Dark spots around the mouth, lips, eyes, fingers, or feet
- Abdominal pain
- Nausea or vomiting
- Diarrhea
- Blood in the stool
- Intestinal blockage caused by polyps
- Fatigue related to blood loss or anemia
People with PJS have a higher lifetime risk of developing cancers involving the digestive tract, pancreas, breast, ovaries, lungs, and other organs.
How Is It Diagnosed?
Healthcare providers diagnose PJS using a combination of symptoms, family history, physical examination, and genetic testing.
Testing may include:
- Genetic testing for STK11 mutations
- Upper endoscopy
- Colonoscopy
- Imaging studies such as MRI or CT scans
These tests help identify polyps, monitor for complications, and screen for cancer.
How Is It Treated?
There is no cure for Peutz-Jeghers syndrome, but ongoing care can help manage symptoms and reduce complications.
Treatment and monitoring may include:
- Regular cancer screenings
- Routine endoscopy and colonoscopy
- Removal of large or symptomatic polyps
- Surgery for bowel obstruction or severe complications
- Genetic counseling for patients and families
Many people with PJS live active lives with careful monitoring and regular follow-up care.
