HemeOnc

Adenomatous Polyposis Syndrome

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Adenomatous Polyposis Syndrome, Familial Adenomatous Polyposis, Adenomatous Polyposis Coli, MYH-Associated polyposis, Attenuated Familial Adenomatous Polyposis, MUTYH-Associated Polyposis

  • Types
  1. Familial Adenomatous Polyposis (Adenomatous Polyposis Coli, MYH-Associated polyposis)
    1. Synchronous advanced adenomas numbering >100
    2. Prevalence: 3 in 100,000
    3. Diagnosed on average by age 39 years old
    4. Colonrectal cancer develops in 87% by age 45 years old (without colectomy)
  2. Attenuated Familial Adenomatous Polyposis
    1. Synchronous advanced adenomas numbering 10-99
    2. Diagnosed on average by age 58 years
    3. Colorectal Cancer develops 69% by age 80 years old (without colectomy)
  3. MUTYH-Associated Polyposis (<100 Colorectal Adenomas)
    1. Autosomal Recessive risk for Colorectal Cancer
    2. Prevalance: <1 in 10,000 (U.S.)
    3. Colorectal Cancer presents typically by age 50-70 years old
    4. Colorectal Cancer risk 19% by age 50, 43% by age 60 years and 100% lifetime risk
  • Management
  1. Familial Adenomatous Polyposis (>100 synchronous advanced adenomas)
    1. Counseling to consider Genetic Testing
    2. Early surveillance
      1. Flexible Sigmoidoscopy starting at Puberty (age 10-12 years)
      2. Repeat Flexible Sigmoidoscopy every 1-2 years until polyp found, then Colonoscopy
      3. Colonoscopy annually until colectomy
    3. Genetic Testing positive or polyposis confirmed
      1. Consider colectomy or
      2. Endoscopy every year
    4. Genetric testing negative (or not performed) and no polyposis
      1. Screen every year until age 24 years, then
      2. Screen every 2 years from age 24 to 34 years old, then
      3. Screen every 3 years until age 44 years, then
      4. Screen every 3-5 years after age 44 years old
  2. Attenuated Familial Adenomatous Polyposis (10-99 synchronous advanced adenomas)
    1. Colonoscopy every 1-2 years starting by late teens to early 20s
      1. Proximal polyp distribution (Flexible Sigmoidoscopy is insufficient)
  3. MUTYH-Associated Polyposis (<100 Colorectal Adenomas)
    1. Colonoscopy starting by late teens to early 20s and repeated every 1-2 years
    2. Colectomy when polyps cannot be controlled with endoscopy
  • Management
  • Other screening
  1. Upper endoscopy (for Gastric Cancer, proximal Small Bowel tumor) starting at age 25 years
  2. Annual Thyroid exam and consider thyroid Ultrasound