Familial adenomatous polyposis (FAP) is a rare, hereditary condition in which a person develops numerous precancerous polyps called adenomas in the large intestine (colon and rectum). Polyps develop in teen years or early 20s. The number of polyps varies from less than 100 to thousands, and with increasing age the polyps get larger and more problematic. Eventually, one or more of these adenomas will become cancerous. Without treatment, patients with FAP have a nearly 100% lifetime risk of colorectal cancer.
The chance of developing colorectal cancer increases with age; the average age at which people are diagnosed with cancer is 39. Patients with FAP are diagnosed either by symptoms if they have no family history to warn them of their risk, or on screening if they are in a family affected by FAP, or have been identified by a positive genetic test. Symptomatic patients are at high risk for cancer and usually need surgery relatively quickly.
Screened patients have no symptoms and treatment timing depends on how severe the FAP is. Children who have inherited the APC mutation normally start yearly colonoscopy when they are 10 or 11. Children who have FAP and develop colon symptoms such as, blood in bowel movements, abdominal pain and/or diarrhea are checked immediately. Examination of the stomach and duodenum usually starts between ages 20 and 25.
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