Familial adenomatous polyposis

Treatment

What are the first things I should do after a diagnosis of familial adenomatous polyposis?

To establish the extent of disease and needs in an individual diagnosed with familial adenomatous polyposis, the following evaluations are recommended:

  1. Personal medical history with particular attention to features of familial adenomatous polyposis (colon cancer, colon polyps, rectal bleeding, diarrhea, abdominal pain)
  2. Family history with particular attention to features of familial adenomatous polyposis
  3. Physical examination with particular attention to manifestations of familial adenomatous polyposis other than colon/intestinal symptoms
  4. Ophthalmologic (eye) evaluation for presence of congenital hypertrophy of the retinal pigment epithelium (CHRPE) (optional)
  5. Colonoscopy with review of pathology (type of cells)
  6. Consideration of upper GI tract evaluation, including endoscopy with a side-viewing scope; if symptomatic, small-bowel imaging such as small-bowel enteroclysis (an x-ray that looks at how contrast moves through the area) or abdominal and pelvic CT with contrast
References
  • Jasperson, K. W. (2017, February 2). APC-Associated Polyposis Conditions. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK1345/.
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Is there a treatment(s) for familial adenomatous polyposis?

Are there other organ or symptom specific treatments for familial adenomatous polyposis?

Is there a treatment(s) for familial adenomatous polyposis?

An FDA-approved treatment exists for familial adenomatous polyposis (FAP) in the United States. The FDA has approved celecoxib (Celebrex; G. D. Searle & Co, Chicago), an anti-inflamatory cyclooxygenase 2 inhibitor, as the first chemopreventive drug treatment for familial adenomatous polyposis (FAP). The new indication is for reduction in the number of adenomatous colorectal polyps in FAP, as an adjunct to endoscopy and surgery. In the pivotal studies, the mean reduction in the number of polyps was 28% for 400 mg of celecoxib twice daily, 12% for 100 mg twice daily, and 5% for placebo.

There is also evidence that taking a combination of 2 medications, sulindac (Clinoril) and erlotinib (Tarceva), decreased the number of colorectal and duodenal polyps. While this is promising, this treatment is not currently standard-of-care as further research is needed to determine the long-term outcomes.

Otherwise, there is no specific treatment to prevent colon cancer or colon polyps. If colon polyps are found by a colonoscopy, doctors can usually treat them by removing them, however, if there are too many polyps they may not be able to be removed by a colonoscopy. Screening for colon polyps, colon cancer, upper intestinal cancer, and thyroid cancer can be managed through a gastrointestinal specialist (gastroenterologist).

Familial adenomatous polyposis screening recommendations include:

  • Annual colonoscopy beginning between 10-15, every 2 years from 24-34, every 3 years from 34-44, and after 44 every 3-5 years
  • Upper endoscopy starting at 20-25 years old, consider baseline earlier if colectomy (removal of colon) before age 20
  • Gastric cancer: examine stomach at same time of upper endoscopy (repeat based on number of polyps)
  • Annual thyroid exam (consider ultrasound) starting in the late teenage years
  • Consider adding small bowel visualization to CT or MRI for desmoids (soft-tussue tumor)
  • Intra-abdominal desmoids: annual abdominal palpation. If family history of symptomatic desmoids, consider annual abdominal MRI or CT 1-3 years post colectomy and then every 5-10 years
  • Hepatoblastoma: liver palpitation, abdominal ultrasound, and measurement of alpha-feta protein level every 3-6 months during the first 5 years of life
  • Pancreatic cancer: no screening recommendation at this time

If an individual has a personal history of familial adenomatous polyposis and a history of many of polyps that cannot all be removed by colonoscopy, the recommendation is:

For individuals with classic FAP, colectomy is recommended after the onset of adenomas; colectomy may be delayed depending on the size and number of adenomatous polyps. Colectomy is usually advised when more than 20 or 30 adenomas or multiple adenomas with advanced histology have developed.

For individuals with attenuated FAP, colectomy may be necessary, but in approximately one third of individuals the colonic polyps are limited enough in number that surveillance with periodic polyp removal by colonoscopy is sufficient.

  • Surgical removal of the rectum and all of the colon (proctocolectomy)
  • Surgical removal of the colon (colectomy)
References
  • National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Colorectal Cancer. (Version 1.2015). http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
  • Jasperson, K. W. (2017, February 2). APC-Associated Polyposis Conditions. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK1345/.
Are there other organ or symptom specific treatments for familial adenomatous polyposis?

There is no specific treatment to prevent familial adenomatous polyposis. However, there are ways to manage and screen for colon polyps, colon cancer, stomach cancer, thyroid cancer, and other non-cancerous associated features.

Familial adenomatous polyposis screening recommendations include:

  • Annual colonoscopy beginning between 10-15, every 2 years from 24-34, every 3 years from 34-44, and after 44 every 3-5 years
  • Upper endoscopy starting at 20-25 years old, consider baseline earlier if colectomy before age 20
  • Gastric cancer: examine stomach at same time of upper endoscopy (repeat based on number of polyps)
  • Annual thyroid exam (consider ultrasound) starting in the late teenage years
  • Consider adding small bowel visualization to CT or MRI for desmoids
  • Intra-abdominal desmoids: annual abdominal palpation. If family history of symptomatic desmoids, consider annual abdominal MRI or CT 1-3 years post colectomy and then every 5-10 years
  • Hepatoblastoma: liver palpitation, abdominal ultrasound, and measurement of alpha-feta protein level every 3-6 months during the first 5 years of life
  • Pancreatic cancer: no screening recommendation at this time
  • Annual physical examination, including evaluation for extra-intestinal manifestations, usually for cosmetic concerns

If an individual has a personal history of familial adenomatous polyposis and a history of many of polyps that cannot all be removed by colonoscopy, the recommendation is:

  • Surgical removal of the rectum and all of the colon (proctocolectomy)
  • Surgical removal of the colon (colectomy)
References
  • National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Colorectal Cancer. (Version 1.2015). http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
  • Jasperson, K. W. (2017, February 2). APC-Associated Polyposis Conditions. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK1345/.

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