Common Polyposis Syndromes
Familial Adenomatous Polyposis
Familial adenomatous polyposis (FAP), also known previously as Gardner syndrome, is the most common of all polyposis syndromes. FAP occurs in 1 in 8,000 to 10,000 children in the United States. FAP is an inherited condition. This means that people with FAP are born with a mutation that causes the development of colorectal polyps. If a parent has FAP, his or her children have a 50 percent chance of having the condition. FAP carries a high risk of progression to colorectal cancer by age 36, as well as duodenal cancer in up to 10 percent of individuals. These patients are also at a 1 percent risk of developing liver cancer in infancy and early childhood as well as thyroid papillary cancer, adrenal cancer, brain cancer, fibrosarcoma, desmoid tumors and in rare cases, gastric polyps.
Juvenile polyposis syndrome
Juvenile polyposis syndrome (JP) is characterized by multiple hamartomatous polyps (polyps consisting of bands of smooth muscle surrounded by other tissue) and involves the central colon in children who develop the condition at an older age.
During the first decade of life, sporadic juvenile polyps occur in as many as 2 percent of children with the average age at about 5 to 6 years old. In most cases, these are solitary polyps, although two or more polyps will develop in up to 58 percent of patients. Sporadic juvenile polyps do not require any long-term follow-up or subsequent surveillance.
While there are no absolute physical characteristics that can distinguish sporadic from syndromic juvenile polyps, usually JP is considered when there are five or more colorectal polyps present; polyps appear in the small intestine or stomach, or if the child has a family history of JP. Physicians at Children's Hospital have ben awarded international recognition for their research in distinguishing between sporadic and syndromic polyposis.
Peutz-Jeghers syndrome is characterized by the development of growths called hamartomatous polyps in the gastrointestinal tract, particularly the stomach and intestines. Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause medical problems such as recurrent bowel obstructions, chronic bleeding and abdominal pain.
People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. The most commonly reported tumors include cancers of the gastrointestinal tract, pancreas, cervix, ovary, breast, Sertoli cell testicular and ovarian sex cord tumors. Testicular cancer may develop in early childhood. Given the high estimated lifetime risk of malignancy in individuals with Peutz-Jeghers, screening protocols are fairly aggressive. Physicians at Children's Hospital have adopted new and advanced endoscopic techniques to remove small intestinal polyps in children with Peutz-Jeghers that saves them from needing open surgery or having obstruction. This technique is known as push endoscopy.