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Familial adenomatous polyposis

FAP is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine.benign malignant transformation into colon cancer occurs when not treated.
Signs and symptoms
  1. These may bleed, leading to blood in the stool. Develop anemia due to gradually developing iron deficiency. 
  2. If malignancy develops, this may present with weight loss, altered bowel habit, or even metastasis to the liver or elsewhere.
  3. The genetic determinant in familial polyposis may also predispose carriers to other malignancies, e.g., of the duodenum and stomach. 
  4. Other signs that may point to FAP are pigmented lesions of the retina ("CHRPE - congenital hypertrophy of the retinal pigment epithelium"), jaw cysts, sebaceous cysts, and osteomata (benign bone tumors). 
  5. The combination of polyposis, osteomas, fibromas and sebaceous cysts is termed Gardner's syndrome (with or without abnormal scarring).
Diagnosis and treatment
  1. Barium enema
  2. Colonoscopy is considered the diagnostic test of choice
  1. Familial adenomatous polyposis can have different inheritance patterns and different genetic causes.
  2. When this condition results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.
  3. The incidence of malignancy in these cases approaches 100%. In most cases, an affected person has one parent with the condition.
  4. Mutations in the MUTYH gene are inherited in an autosomal recessive pattern,
  1. Treatment for FAP depends on the genotype. Most individuals with the APC mutation will develop colon cancer by the age of 40. Therefore, prophylactic surgery is generally recommended before the age of 25.
  2. Once the diagnosis of FAP is made, close colonoscopic surveillance with polypectomy is required. 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.
  3. There are several surgical options that involve the removal of either the colon or both the colon and rectum.
  4. The decision to remove the rectum depends on the number of polyps in the rectum as well as the family history.
  5. If the rectum has few polyps, the colon is removed and the (ileum) is connected to the rectum (ileorectal anastomosis).
  6. If the rectum is involved then the colon and rectum are removed and a patient may require an ileostomy or have an ileo-anal pouch reconstruction.
  7. Various medications are being investigated for slowing malignant degeneration of polyps, most prominently the NSAIDs).
  8. The 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.

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