Colectomy specimen showing numerous polyps throughout the large bowel Because of the way<unk>  polyposis develops, it is possible to have the genetic condition, and therefore be at risk, but have no polyps or issues so far. Therefore, an individual may be diagnosed "at risk of"<unk> , and require routine monitoring, but not (yet) actually have<unk>  (i.e., carries a defective gene but as yet appears not to have any actual medical issue as a result of this). Clinical management can cover several areas: * Identifying those individuals who could be at risk of<unk> : usually from family medical history or genetic testing * Diagnosis (confirming whether they have<unk> —this can be done either by genetic testing, which is definitive or by visually checking the intestinal tract itself. :: It is important to note that visual examination, or monitoring, cannot 'clear' a person of risk. It can only say what their condition is at the time. If at any point in their life the person develops numerous polyps, this would tend to suggest a diagnosis of<unk> . (Absence of polyps does not 'clear' a person, as polyps can develop later in life; also a few polyps over time are not that uncommon in people without<unk> . However a substantial number or a profusion of polyps would generally tend to suggest a diagnosis of<unk> , and histopathology to determine whether or not any polyps are cancerous.) * Screening/monitoring programs involve visually examining the intestinal tract to check its healthy condition. It is undertaken as a routine matter every few years where there is cause for concern when either (a) a genetic test has confirmed the risk or (b) a genetic test has not been undertaken for any reason so the actual risk is unknown. Screening and monitoring allow polyposis to be detected visually before it can become life-threatening. * Treatment, typically surgery of some kind, is involved if polyposis has led to a large number of polyps, or a significant risk of cancer, or actual cancer. Family history NCBI states that "Although most individuals diagnosed with an APC-associated polyposis condition have an affected parent, the family history may appear to be negative because of failure to recognize the disorder in family members, early death of the parent before the onset of symptoms, or late onset of the disease in the affected parent." In addition around 20% of cases are a de novo mutation, and of those with an apparent de novo APC mutation (i.e. no known family history) 20% have somatic mosaicism. Asymptomatic individuals (and therefore asymptomatic family members) are also known to exist. Monitoring Monitoring involves the provision of outpatient colonoscopy, and occasionally upper gastric tract esophagogastroduodenoscopy (EGD, to search for premalignant gastric or duodenal cancers), typically once every 1–3 years, and/or a genetic blood test to definitively confirm or deny susceptibility. A small number of polyps can often be excised (removed) during the procedure if found, but if there are more severe signs or numbers, inpatient surgery may be required. NCBI states that when an individual is identified as having<unk> , or the mutations resulting in<unk> : "It is appropriate to evaluate the parents of an affected individual (a) with molecular genetic testing of APC if the disease-causing mutation is known in the proband person first identified with the condition or (b) for clinical manifestations of APC-associated polyposis conditions". Treatment Treatment for<unk>  depends on the genotype. Most individuals with the APC mutation will develop colon cancer by the age of 40, although the less-common attenuated version typically manifests later in life (40–70). Accordingly, in many cases, prophylactic surgery may be recommended before the age of 25, or upon detection if actively monitored. There are several surgical options that involve the removal of either the colon or both the colon and rectum. * Rectum involved: the rectum and part or all of the colon are removed. The patient may require an ileostomy (permanent stoma where stool goes into a bag on the abdomen) or have an ileo-anal pouch reconstruction. The decision to remove the rectum depends on the number of polyps in the rectum as well as the family history. If the rectum has few polyps, the colon is partly or fully removed and the small bowel (ileum) can be directly connected to the rectum instead (ileorectal anastomosis). * Rectum not involved: the portion of the colon manifesting polyps can be removed and the ends 'rejoined' (partial colectomy), a surgery that has a substantial healing time but leaves quality of life largely intact. Prophylactic colectomy is indicated if more than a hundred polyps are present, if there are severely dysplastic polyps, or if multiple polyps larger than 1 cm are present. Treatment for the two milder forms of<unk>  may be substantially different from the more usual variant, as the number of polyps is far fewer, allowing more options. Various medications are being investigated for slowing malignant degeneration of polyps, most prominently the non-steroidal anti-inflammatory drugs (NSAIDs). NSAIDS have been shown to significantly decrease the number of polyps but do not usually alter management since there are still too many polyps to be followed and treated endoscopically. The drug eflornithine, an inhibitor of ornithine decarboxylase typically used to treat trypanosomiasis, is being investigated as a potential preventive medication in combination with the NSAID celecoxib for treatment of<unk> . Another investigational agent is sulindac, also used in combination with NSAIDs.
Familial adenomatous polyposis
Hereditary nonpolyposis colorectal cancer
Juvenile polyposis syndrome
MUTYH-associated polyposis
Serrated polyposis syndrome
Pseudopolyps
Ogden syndrome
Polymerase proofreading-associated polyposis