Most experience some signs in the first decade of life, however many do not experience problems until adulthood. Ninety percent of the cases reporting polyps require clinical treatment due to hemorrhaging and acute or chronic anemia usually accompanied with abdominal pain. Patients may also report rectal bleeding or blood in their stool. Definitive diagnosis is made by microscopic examination of several removed polyps. Peutz-Jeghers Syndrome is one of several genetic disorders associated with gastrointestinal polyps.
Cowden disease is associated with polyps in the stomach and intestine.
Frequently, PJS can be misdiagnosed as juvenile polyposis. Carney syndrome is characterized by freckling with myxomas. Cancer risk PJS polyps can exhibit benign or malignant changes. The cancer risk for those affected with PJS is higher than the general population. Most of the cancer associated with PJS is outside of the gastrointestinal tract.