What is Peutz-Jeghers syndrome?
Peutz-Jeghers syndrome (PJS) is a hereditary condition that causes multiple polyps (abnormal growths) called hamartomas in the gastrointestinal (GI) tract. Hamartomas can be found anywhere from the stomach to the rectum, but they are mostly found in the small intestine.
Children with PJS may have dark-blue or black spots (called pigmentation) on the lips and inside the mouth. These spots are less frequently found on the hands and feet.
PJS occurs in approximately 1 in 150,000 people and affects both males and females equally.
Peutz-Jeghers Syndrome | Symptoms & Causes
What are the symptoms of PJS?
Children may begin to experience symptoms of PJS during the first 10 to 15 years of life. Abnormal symptoms that may develop include:
- abdominal pain
- rectal bleeding
Individuals with PJS have an increased risk of developing GI and non-GI related cancers during adulthood.
Gastrointestinal (GI) cancers
- small intestine
- large intestine
The greatest threat in PJS is GI cancer and breast cancer. Dark-blue or black spots on the skin are a common sign of PJS (found in more than 95 percent of children) and can be seen within the first two years of birth, long before polyps are found. These spots may be found on several areas of the body:
- inside the mouth (buccal mucosa)
It is possible for the pigmentation to fade as the child grows into an adult.
What causes PJS?
It's usually caused by a mutation of the serine threonine kinase (STK11) gene, also called the LKB1 gene. This alteration in the gene mutation can be passed down from a parent, or it can be a new mutation in the STK11/LKB1 gene.
Peutz-Jeghers Syndrome | Diagnosis & Treatments
How is PJS diagnosed?
Children are tested for Peutz-Jeghers syndrome by performing an upper gastroenterology (GI) endoscopy and a colonoscopy. These procedures allow the doctor to look inside the esophagus, stomach, duodenum, and large intestine using separate long, flexible tubes with cameras on the end.
The small intestine is examined using a wireless capsule endoscope.
Another way to test for PJS is through genetic testing. Identifying the PJS-mutation in the STK11 gene is very accurate with a detection rate of more than 90 percent.
Other testing may include radiology imaging, such as MRI.
Should my child be screened for PJS?
Children should be tested for PJS if they have an unusual freckle pattern on the face, especially on the lips or mouth; a family history; or intestinal cancer at a young age.
Consultation with a GI specialist should take place from the moment JPS is suspected. Initial endoscopic screening should begin by age 8 to 10 years.
What are the treatment options for PJS?
Generally, polyps are treated with a procedure known as a polypectomy, which involves removing the polyps with an endoscope. If the polyps are very large, surgery may be necessary.
Although there is no cure for PJS, treatment can reduce complications, such as abdominal pain, bowel obstruction, GI bleeding, and cancer.
How we care for PJS
The Boston Children's Hospital Pediatric Polyposis Program provides a full spectrum of care for children with PJS, from the diagnosis to the treatment to follow-up care. Our clinicians use advanced endoscopic techniques tailored for each child.
We bring together specialists from multiple disciplines including Gastroenterology, Genetics, and Radiology. In addition, we collaborate with cancer experts from Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.