How does familial adenomatous polyposis affect the body?

Familial adenomatous polyposis (FAP) is a rare, inherited condition caused by a defect in the adenomatous polyposis coli (APC) gene. Most people inherit the gene from a parent. But for 25 to 30 percent of people, the genetic mutation occurs spontaneously. FAP causes extra tissue (polyps) to form in your large intestine (colon) and rectum.

What happens If adenomatous polyps go untreated?

Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps (adenomatous polyps). If left untreated, affected individuals inevitably develop cancer of the colon and/or rectum at a relatively young age.

How old do you have to be to have adenomatous polyposis?

[2] The signs and symptoms of familial adenomatous polyposis (FAP) vary both within families and between families. Classic FAP is characterized primarily by hundreds to thousands of noncancerous (benign) polyps (growths) in the colon that begin to appear at an average age of 16 years.

How are APC mutations related to adenomatous polyposis?

These mutations affect the ability of the cell to maintain normal growth and function. Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis.

When do you have symptoms of familial polyposis?

(hereditary polyposis of the colorectum, familial polyposis, Gardner’s syndrome) Many patients with colorectal cancer experience no symptoms in the early stages of the disease. Symptoms may not appear until the disease is in an advanced stage.

What kind of MRI is needed for familial adenomatous polyposis?

Baseline brain MRI could be considered for families with a history of medulloblastoma or other brain tumors. Recommended screenings for adults with familial adenomatous polyposis include the following: Yearly physical exams by a health care provider who knows this condition well.

How does familial adenomatous polyposis ( APC ) gene mutation occur?

Familial adenomatous polyposis. Print. Familial adenomatous polyposis (FAP) is a rare, inherited condition caused by a defect in the adenomatous polyposis coli (APC) gene. Most people inherit the gene from a parent. But for 25 to 30 percent of people, the genetic mutation occurs spontaneously.

Are there any synonyms for adenomatous polyposis?

Synonyms of Familial Adenomatous Polyposis 1 adenomatous polyposis of the colon (APC) 2 familial multiple polyposis 3 FAP 4 hereditary polyposis coli 5 multiple polyposis of the colon

When do people with adenomatous polyposis develop colon cancer?

They can appear as early as 7 years of age or as late as 35. By age 35, about 95% of people with these conditions have developed polyps in the colon. Without surgery to remove the colon, people with these types of familial adenomatous polyposis will all eventually develop colon cancer.

What is the treatment for attenuated adenomatous polyposis?

Treatment Treatment. Attenuated familial adenomatous polyposis (AFAP) is generally managed with regular screening to detect if and when polyps develop. Screening by colonoscopy has been recommended for affected people starting at age 20 to 25 years.