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Familial adenomatous polyposis

Key sources
The following summarized guidelines for the evaluation and management of familial adenomatous polyposis are prepared by our editorial team based on guidelines from the American Society of Colon and Rectal Surgeons (ASCRS 2024), the European Society of Gastrointestinal Endoscopy (ESGE 2023), the American Society for Gastrointestinal Endoscopy (ASGE 2020), and the American College of Gastroenterology (ACG 2015).
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Guidelines

1.Screening and diagnosis

Indications for screening: perform screening sigmoidoscopy or colonoscopy in pediatric patients with definite or suspected FAP starting at ages 10-12 years.
B
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  • Screening of family relatives

  • Diagnosis

2.Diagnostic investigations

Genetic testing: as per ASCRS 2024 guidelines, elicit a thorough family history in patients with suspected adenomatous polyposis syndrome. Refer patients to genetic counseling and testing with a multigene panel.
B

3.Diagnostic procedures

Upper gastrointestinal endoscopy: perform careful examination of the ampulla and periampullary region using a duodenoscope or cap-assisted gastroscope given the predilection for cancer in this area.
B

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  • Biopsy

4.Medical management

Chemoprevention: as per ASCRS 2024 guidelines, consider offering chemoprevention for adenomas in patients with FAP or MYH-associated polyposis with retained colon or rectum.
B

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  • Management of intra-abdominal desmoid disease

5.Therapeutic procedures

Endoscopic resection: perform endoscopic resection of:
gastric and duodenal polyps > 1 cm, given the risk of developing dysplasia
all antral polyps, given the predominance of gastric adenomas in this location
B

6.Surgical interventions

Indications for colectomy
As per ASCRS 2024 guidelines:
Consider performing total abdominal colectomy with ileorectal anastomosis in patients with FAP with relative rectal sparing if all rectal adenomas of > 5 mm size are amenable endoscopically. Perform proctocolectomy with ileostomy or ileal pouch-anal anastomosis in patients with rectal adenoma not amenable endoscopically.
C
Decide on the timing and extent of resection in patients with biallelic MUTYH pathogenic variants based on the ability to clear polyps, the rectal polyp burden, and the presence of malignancy.
B

7.Follow-up and surveillance

Surveillance endoscopy, colon, ASCRS: perform annual colonoscopy in patients with biallelic MUTYH pathogenic variants if the adenoma burden can be cleared endoscopically.
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  • Surveillance endoscopy (small bowel)

  • Postoperative surveillance

  • Surveillance for extracolonic malignancies (gastrointestinal)

  • Surveillance for extracolonic malignancies (hepatic)

  • Surveillance for extracolonic malignancies (thyroid)