PJS Symptoms, Diagnosis and Treatment

What are the symptoms of PJS?

People are generally diagnosed because of crampy abdominal pain and a bloated feeling. One or more hamartomas may twist on a stalk and block the inside of the small intestine. Constipation may alternate with diarrhea. As hamartomas rub against the intestinal lining, bleeding may occur, leading to persistent tiredness and lack of energy. Severe anemia may develop as a result of significant bleeding which is not detected or treated and should be an important warning sign in someone who has a family history of PJS.

How is PJS diagnosed?

X-ray examination of the small intestine using a contrast dye is performed to highlight the intestine.

The small intestine is divided into the duodenum which comes first, the jejunum in the middle, and the final portion called the ileum. A flexible tube with an optical system called a gastroscope is passed into the windpipe, stomach, and the duodenum.

A colonoscope is a similarly lighted tube which allows the doctor to examine the large bowel, sometimes called the colon. Both tubes have a wire loop which can be inserted to remove all or part of any polyps seen. This tissue can then be biopsied, or examined microscopically, to confirm the type of polyp.

How is PJS treated?

Treatment is tailored to each patient and is mostly confined to removal of large polyps and the area of affected bowel. Patients require examination of the large and small intestine using flexible fibre optic instruments which have a wire loop to remove all or part of the polyp(s) in the large bowel and in the first part of the small intestine. Special bowel x-rays highlight the remainder of the small intestine.