Theme 02 PSU Familial Adenomatous Polyposis Familial history of colon cancer is an important indicator of future risk for colorectal cancer. The more extensive and closer the affected relatives, the greater the risk. Once the risk is appreciated screening for the disease must take place. This involves genetic analysis for members of syndrome families along with lower gastrointestinal endoscopy for the rest as polyps can occur throughout the gastrointestinal tract.
Initial presentation can be rectal bleeding.
Besides multiple adenomatous polyps of the colon predisposing to malignancy at an early age, a variety of extra colonic manifestations are associated with this condition. Once the diagnosis of FAP is established endoscopic surveillance should be instituted. All polyps should be subjected to histopathological exam to determine presence of adenomatous epithelium. Almost one-third of cases develops adenomas in the ileal pouch after proctocolectomy. Baseline small bowel enteroscopy should be done at the time of surgery and in the postop period in children with FAP and juvenile polyposis.