Peutz-Jeghers Syndrome (PJS) | Diagnosis & Treatment

How is Peutz-Jeghers syndrome (PJS) diagnosed?

Children are tested for Peutz-Jeghers syndrome (PJS) 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.