Familial Adenomatous Polyposis

Diagnosis

If you have a parent, child, brother, or sister with familial adenomatous polyposis (FAP), you are considered at risk for developing the condition. Early and frequent screening, starting in childhood, is essential to detect polyps before they become cancerous.

Screening methods include:

• Sigmoidoscopy
  A flexible tube is inserted into the rectum to inspect the rectum and sigmoid, the last two feet of the colon. For individuals with a genetic diagnosis of FAP or at-risk family members who haven’t undergone genetic testing, the American College of Gastroenterology recommends annual sigmoidoscopy beginning at ages 10 to 12 years.

• Colonoscopy
  This test uses a flexible tube to inspect the entire colon. Once polyps are detected, annual colonoscopies are required until surgery is performed to remove the colon.

• Esophagogastroduodenoscopy (EGD) and side-viewing duodenoscopy
  These scopes allow doctors to examine the esophagus, stomach, and upper part of the small intestine (duodenum and ampulla). A small tissue sample (biopsy) may be taken for further analysis.

• CT or MRI scans
  Imaging tests of the abdomen and pelvis may be used to evaluate desmoid tumors and other complications.

Genetic testing

A simple blood test can identify whether you carry the abnormal gene that causes FAP. Genetic testing may also help assess the risk of complications.

Your doctor may suggest genetic testing if:

• You have family members with FAP

• You show some but not all signs of the condition

Ruling out FAP can spare at-risk children years of screening and anxiety. For children who test positive for the gene, appropriate monitoring and early treatment greatly reduce the risk of developing cancer.

Additional tests

Your doctor may also recommend thyroid exams and other evaluations to detect additional health issues associated with FAP.

Treatment

Initial treatment focuses on removing small polyps during colonoscopy. Over time, polyps become too numerous to remove individually, often by the late teens or early twenties, making surgery necessary to prevent colon cancer. Surgery is also required if a polyp becomes cancerous. Individuals with attenuated familial adenomatous polyposis (AFAP) may not always need surgery.

Minimally invasive colorectal surgery

Surgeons may perform laparoscopic surgery using small incisions that require minimal stitches. This approach often leads to shorter hospital stays and faster recovery.

Depending on your specific case, surgical options may include:

• Subtotal colectomy with ileorectal anastomosis (the rectum remains in place)

• Total proctocolectomy with continent ileostomy (the colon and rectum are removed and an opening is created on the abdomen)

• Total proctocolectomy with ileoanal anastomosis, also called J-pouch surgery (the colon and rectum are removed, and the small intestine is attached to the rectum)

Follow-up treatment

Surgery does not cure FAP, as polyps can still develop in remaining or reconstructed areas of the digestive tract. Regular monitoring is essential.

Post-surgery screening may include:

• Sigmoidoscopy or colonoscopy

• Upper endoscopy

• Thyroid ultrasound

• CT or MRI to monitor for desmoid tumors

Depending on your results, your doctor may suggest treatments for:

• Duodenal or periampullary polyps – Surgery may be required to remove parts of the small intestine if these polyps pose a cancer risk.

• Desmoid tumors – Treatment may involve medications such as NSAIDs, anti-estrogen therapy, chemotherapy, or surgery.

• Osteomas – These noncancerous bone growths may be removed for pain relief or cosmetic improvement.

Potential future treatments

Researchers are studying new therapies for FAP, including the potential role of pain relievers like aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs) and the use of certain chemotherapy agents to slow or prevent polyp growth.