Monitoring

Pouch or rectal screening for patients with FAP/attenuated FAP following colectomy[9][12][44]​​​​​

  • Pouchoscopy should be performed annually after ileal pouch-anal anastomosis.

  • Following ileorectal anastomosis, proctoscopy should be performed every 6-12 months.

  • If the patient has had an ileostomy, careful visualization and stoma inspection by ileoscopy to evaluate for polyps or malignancy should be carried out annually.

Gastric cancer surveillance

  • Fundic gland polyps (FGPs) are found in up to 90% of patients with FAP.[12]​ Unlike sporadic FGPs, focal low-grade dysplasia can occur but rarely develops into adenocarcinoma.[12] Gastric adenomas are less common than FGPs in patients with FAP. The risk of gastric adenomas and gastric cancer in patients with FAP appears to be higher in those from geographic areas with high gastric cancer risk.[9][12]​​​​ Lifetime risk for gastric cancer in patients with FAP or attenuated FAP is reported to be in the range of 0.1% to 7.1%.[9][Figure caption and citation for the preceding image starts]: Fundic gland polypsFrom the personal collection of Lisa A. Boardman, MD; used with permission [Citation ends].com.bmj.content.model.Caption@33b34e11

  • Upper endoscopic surveillance should be carried out at the same time as duodenal/periampullary surveillance (i.e., starting at age 20-30 years), with surveillance intervals determined by the Spigelman stage of duodenal polyposis.[29]

  • Gastric cancer risk may be elevated in the setting of certain endoscopic findings, including carpeting of FGPs, polyps >10 mm to 20 mm, mounds of polyps, and proximal gastric white mucosal patches.[9][12]​​​​

  • Random sampling of FGPs should be undertaken and surgery reserved for high-grade dysplasia or cancer.[29]​ Presence of FGPs with low-grade dysplasia alone, in the absence of high-risk features, does not require specialized surveillance. High-risk histologic features include tubular adenomas, polyps with high-grade dysplasia, and pyloric gland adenomas.[9]​ Patients with high-risk lesions that cannot be removed endoscopically should be referred to a specialized center for consideration of gastrectomy.[9]

Small bowel screening[9][12][86]​​

  • The need for small bowel polyp screening beyond the duodenum is controversial in FAP. Small bowel surveillance may be discussed with patients with FAP and may be considered, particularly in the setting of obstructive symptoms or a family history of small intestinal polyposis in other family members.

  • Options for imaging include small bowel enteroclysis, CT or MR enterography, or video capsule endoscopy.

Thyroid screening

  • Thyroid cancer occurs in 1% to 2% of the FAP population, compared with 0.2% of the general population. Most cases occur in women.[28]​ Guidelines differ with regard to recommendations for thyroid screening, although most recommend annual ultrasound of the thyroid gland, with or without physical exam.[28][29][40]​​​ European guidelines recommend starting screening at age 25-30 years, or when colorectal polyposis is diagnosed, whichever comes first.[40]

  • The NCCN differs in that it recommends a baseline thyroid ultrasound in late adolescence, with a follow-up every 2-5 years. Shorter follow up intervals may be considered for patients with a family history of thyroid cancer.[9]​ 

Hepatoblastoma screening

  • Recommendations for hepatoblastoma screening in patients with FAP vary. Some have suggested annual abdominal ultrasound and serum alpha-fetoprotein (AFP) testing for children with a family history of FAP.[12][40]​ The NCCN suggests liver palpation, abdominal ultrasound, and measurement of AFP every 3-6 months during the first 5 years of life, but the guidelines note that high-level evidence to support this is lacking.[9]​ The European Society for Paediatric Gastroenterology Hepatology and Nutrition guideline recommends against routine screening for hepatoblastoma.[24]

Medulloblastoma screening

  • Patients should be educated regarding signs and symptoms of brain cancer and the importance of prompt reporting of abnormal symptoms to their physicians.[9]

Dermoid tumor surveillance

  • Patients should be offered immediate abdominal imaging if they have any abdominal symptoms suggestive of desmoid tumors. Consider annual surveillance with abdominal imaging (computed tomography or magnetic resonance imaging) if patients have a history of symptomatic desmoids.[9]

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