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Familial adenomatous polyposis (FAP) is a rare condition characterised by hundreds or thousands of small growths or extra tissues called polyps in the upper part of the small intestine (duodenum) and large intestine. Left untreated, the polys can become cancerous by age 40. The genetic condition can be inherited or acquired spontaneously at birth through mutation.

Early stages of FAP are not associated with any symptoms. Hence, diagnosis through genetic testing and examination of the intestine using colonoscopic screening (a lighted tube inserted through the anus to view the intestine) is imperative in those having a family history of FAP. As the disease progresses, symptoms may include a change in bowel habits, bleeding from the rectum, pain in the abdomen and weight loss for no obvious reason.

FAP is best managed early, when you have few polyps and don’t experience any symptoms. Treatment includes the surgical removal of:

  • Entire colon and rectum, with the creation of an opening for the removal of wastes (Total Proctocolectomy with Brooke Ileostomy)
  • Entire colon and rectum, with the creation of a pouch within the abdominal wall for waste disposal (Total Proctocolectomy with Koch Pouch)
  • Entire colon and all or most of the rectum (Restorative Proctocolectomy)
  • Entire colon, leaving all or most of the rectum intact (Colectomy with Ileorectal Anastomosis)

Conditions

  • Medical Board of Australia
  • Royal Australasian College of Physicians
  • Gastroenterological Society of Australia
  • American Society for Gastrointestinal Endoscopy
  • American Gastroenterological Association
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