What is Familial Polyposis?
Familial polyposis (FAP) is a hereditary condition in which an individual develops many precancerous polyps known as adenomas in the colon and rectum. Most patients with this condition inherit the gene from a parent, though the genetic mutation may spontaneously occur as well. The polyps that form in the large intestine and rectum are likely to become cancerous if left untreated. The polyps usually develop in the teen years or early 20s and increase in size over time. An individual may have hundreds or even thousands of these polyps.
This condition is also associated with other complications, including the following:
· Desmoids: These are noncancerous tumors that often grow in the abdomen, and may cause issues if they grow into nerves or blood vessels.
· Duodenal polyps: These polyps grow in the upper part of the small intestine and may become cancerous. However, with monitoring, they can be detected and removed before they become dangerous.
· Periampullary polyps: These are polyps that occur where the bile and pancreas ducts enter the duodenum. They may become cancerous but can often be removed before they become a threat.
· Gastric fundic polyps: These are polyps that grow in the stomach lining. They may or may not need to be removed, depending on if they create symptoms or become cancerous.
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How is Familial Polyposis Diagnosed?
Individuals with a parent, child or sibling with familiar polyposis are at risk of developing this condition as well. In order to detect FAP early on, it is important to undergo frequent screening, beginning in childhood. Screening tests may consist of colonoscopy, sigmoidoscopy, esophagogastroduodenoscopy (EGD), CT, MRI or more.
There is also genetic testing available to determine if you carry the gene that causes FAP. This test uses a cheek swab or blood sample to obtain the DNA needed to test for the APC gene mutation. If this mutation is detected, the patient’s family members should also be screened for the mutation to determine if screening is needed.
Familial Polyposis Treatment Options
While there is no cure for familial polyposis, there are treatment options aimed at preventing cancer and managing symptoms. Treatment is a multi-step process that occurs over time as the condition progresses and includes:
Polyp Removal: In the beginning stages of FAP, your doctor will remove any small polyps that are seen during your colonoscopy. However, the polyps will eventually become too numerous to remove one by one. When this occurs, surgery will be needed to prevent colon cancer or remove cancerous polyps.
Minimally Invasive Colorectal Surgery: Surgery may be performed laparoscopically through small incisions to lessen your downtime. In some cases, surgery may be required to remove part of or all of the colon.
Follow-up Treatment: Surgery is not a cure for FAP, and polyps will continue to form over time. Regular screening is needed to check for cancerous polyps.
Your South Denver GI Team
At South Denver GI, our team of physicians and advanced practice providers have the expertise to provide you with outstanding care. If you would like to learn more about Familial Polyposis (FAP) or need to schedule an appointment at our office, contact us today!
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