Gastrointestinal Polyposis Syndromes

A gastrointestinal (GI) polyp is an abnormal growth of tissue that forms in the inner lining of the colon, rectum, stomach, or other parts of the digestive tract. Polyps may be noncancerous (benign), cancerous (malignant), or precancerous, meaning they may become cancerous. When a large number of polyps are present, this is referred to as polyposis.

A number of syndromes, collectively known as GI polyposis syndromes, are characterized by the presence of numerous polyps in the colon, rectum, and/or other parts of the GI tract. In many cases, the polyps develop at a young age, and people with a GI polyposis syndrome are at increased risk for colorectal cancer and, sometimes, stomach cancer or cancers in other parts of the body.

What are polyposis syndromes?

Many polyposis syndromes are caused by mutations in certain genes. These mutations can alter the function of the affected genes, resulting in an increased risk of developing colorectal polyps and conditions that affect other parts of the body.

Learn more about the multiple types of GI polyposis syndromes.

What are the symptoms of polyposis syndromes?

Symptoms can vary depending on the type of polyposis syndrome and some patients may initially have no symptoms. Symptoms related to colorectal and GI polyposis may include:

• Abdominal pain
• Anemia
• Blood in stool
• Constipation
• Diarrhea
• Nausea and/or vomiting
• Protein-losing enteropathy (excess loss of proteins in the blood into the GI tract, leading to limb swelling, fluid buildup in the abdomen, and diarrhea)
• Rectal bleeding
• Tenesmus (feeling of having to pass stools even though the bowels are empty)
• Weight loss

How are polyposis syndromes diagnosed?

Diagnosis of polyposis syndromes may involve a review of the patient’s medical history, a physical exam, and one or more procedures or tests. Polyposis syndrome may be suspected based on family history, the presence of symptoms, or if multiple colorectal polyps are found during colonoscopy.

Certain tests and procedures are also used to identify and diagnose polyposis syndromes, including:

• Colonoscopy and/or sigmoidoscopy
• Upper endoscopy
• Genetic testing

How are polyposis syndromes treated?

Polyposis syndromes can affect various parts of the body; therefore, treatment can involve a team of multidisciplinary specialties including GI specialists, oncologists, dermatologists and others.

Treatments may include:

• Surveillance: Polyposis syndromes increase the risk for colorectal and other cancers, so it is important for patients to have routine surveillance (or monitoring) for cancer risk. For those with polyposis syndrome, it is recommended to receive colonoscopies or sigmoidoscopies at a younger age and at shorter intervals (often every one to three years) than usual to detect and remove colorectal polyps.
• Colectomy and/or proctocolectomy: The surgical removal of the entire colon (total colectomy), part of the colon (subtotal colectomy), or the colon and the rectum (proctocolectomy) may be done as a precautionary measure to prevent colorectal cancer from developing or, if cancer has developed, to remove it from the body.
• Medications: Medication may be used to treat some types of polyposis syndromes.