Familial adenomatous polyposis FAP

Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC)... 

Epidemiological evidence reveals that individuals who take aspirin or NSAIDs have a 40-50% reduced risk of developing colon cancer and its nonmalignant precursor, the adenomatous polyp (4,43-46). Familial adenomatous polyposis (FAP) is a disease inher-... 

Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. Familial adenomatous polyposis (FAP) fr equency, penetrance, and mutation rate. Hum Mut 1994 3 121-5. 

Ripa R, Bisgaard ML, Bulow S, Nielsen FC. De novo mutations in familial adenomatous polyposis (FAP). Eur J Hum Genet 2002 10 631-7. 

Colon cancer is one of the main causes of cancer mortality in Western societies [150]. About 15-20% of colorectal tumors are causally determined by inheritance of genetic alterations such as the hereditary nonpolyposis colorectal cancer (HNPCC) and the syndrome familial adenomatous polyposis (FAP) [151,152]. Microsatellite instability, a characteristic of HNPCC, is caused by mutations in the genes essential for mismatch repair. The loss of mismatch repair has several consequences most crucially, the loss of proofreading and correction of small deletions and insertions. FAP is a rare autosomal dominant syndrome caused by an inherited mutation in the APC gene. The disease is characterized by the development of multiple colorectal adenomas, numbering from a few polyps to several thousands. 

Celecoxib is a selective COX-2 inhibitor/GI agent that reduces inflammation (e.g., pain, redness, swelling, heat), fever, and pain by inhibiting chemicals in the body that cause inflammation, fever, and pain. This is probably caused by the inhibition of prostaglandin synthesis, primarily via inhibition of cyclooxygenase-2 (COX-2) isoenzyme. Celecoxib is indicated in relief of symptoms of osteoarthritis relief of symptoms of rheumatoid arthritis in adults management of acute pain in adults treatment of primary dysmenorrhea and reduction of the number of adenomatous colorectal polyps in familial adenomatous polyposis (FAP), as an adjunct to usual care (e.g., endoscopic surveillance, surgery). 

Familial adenomatous polyposis (FAP) 400 mg twice daily with food, as an adjunct to usual care. (FAP is a hereditary polyposis syndrome with a progression to colorectal cancer. Increased COX-2 protein was found in the polyp specimens from patients with FAP in a dose-dependent manner, early treatment with celecoxib significantly reduces the number of colorectal polyps in patients with FAP) [1]. 

Individuals with inherited familial adenomatous polyposis (FAP) develop numerous polyps, the premalignant precursors to colorectal carcinoma. A remarkable heterogeneity in patient response was observed in a clinical trial with a cyclooxygenase-2-inhibitor, celocoxib, which is known to be efficacious in FAP. SELDl proteomic profile revealed that a putative marker at 16,961.4 Da was a strong discriminator between response and nonresponse [134]. 

All patients with upper gastrointestinal tract (GIT) symptoms are eligible for gastroscopy. Gastroscopy is also indicated in patients with symptoms of iron deficiency anaemia and/or clinical suspicion of enteropathy, and may be indicated in some asymptomatic patients i.e. healthy members of families with hereditary polyposis syndromes, most typically familial adenomatous polyposis (FAP). Finally, gastroscopy is indicated in follow-up programmes of ulcer treatment, cancer surveillance, dilation procedures, etc. 

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