What advice to give to a family with a history of polyposis syndrome?

Management Advice for Families with Polyposis Syndrome

Families with a history of polyposis syndrome should undergo genetic testing to identify the specific mutation, followed by targeted surveillance only for mutation carriers, with surveillance protocols tailored to the specific syndrome type. 1

Genetic Testing Approach

• All patients diagnosed with polyposis syndrome should be referred to a Regional Genetics Centre for formal genetic counseling and mutation analysis of the respective gene 1
• Family members of affected individuals should undergo genetic testing for the specific mutation identified in the family 1
• If the family mutation is known, mutation-specific germline testing provides a definitive result - positive means the individual has the syndrome, negative means they do not 1
• If no family mutation has been identified yet, first seek to test an affected family member to identify the causative mutation 1, 2

Surveillance Recommendations Based on Syndrome Type

Familial Adenomatous Polyposis (FAP)

• For classic FAP, begin colorectal screening at age 10-12 years 1, 3
• Flexible sigmoidoscopy or colonoscopy should be performed:
  • Every 12 months until age 24 years
  • Every 2 years until age 34 years
  • Every 3 years until age 44 years
  • Then every 3-5 years thereafter 1
• Upper endoscopy and side-viewing duodenoscopy beginning at age 30-35 years and every 3-5 years 1

Attenuated FAP

• Begin colonoscopy in late teens, then every 2-3 years 1
• Upper endoscopy and side-viewing duodenoscopy beginning at age 30-35 years and every 3-5 years 1

MUTYH-Associated Polyposis (MAP)

• Begin colonoscopy at age 18-20 years, annually 1
• Upper endoscopy and duodenoscopy starting at age 35, frequency based on findings 1

Lynch Syndrome

• MLH1 or MSH2 mutation carriers: Begin colonoscopy at age 20-25 years, every 1-2 years 1
• MSH6 or PMS2 mutation carriers: Begin colonoscopy at age 25-30 years, every 1-2 years 1
• Upper endoscopy every 1-2 years from age 30-35 1
• For women: Consider endometrial biopsy every 1-2 years and regular vaginal ultrasound with serum CA125 testing 1

Important Considerations for Family Management

• Genetic testing allows for targeted surveillance of only those carrying the mutation, avoiding unnecessary procedures for non-carriers 1, 2
• Family members who test negative for the known family mutation do not require continued surveillance 1
• Between one-third and half of new FAP cases represent de novo mutations with no family history 3, 2
• The position of the APC mutation correlates with disease severity and may influence management decisions 3, 2

Surgical Considerations

• For FAP patients with advanced disease, surgical options include:
  • Colectomy with ileorectal anastomosis (IRA) for patients with small adenoma burden 1
  • Proctocolectomy for patients with severe disease 1
• Timing of surgery depends on polyp burden, age, and family history of early colorectal cancer 1

Follow-up After Surgery

• After colectomy, annual endoscopic examination of the retained rectum is required 1
• Lifelong surveillance for extracolonic manifestations is necessary 1, 3

Multidisciplinary Approach

• Management should involve gastroenterologists, surgeons, geneticists, and other specialists as needed 3
• Consider referral to specialized centers with expertise in hereditary colorectal cancer syndromes 1