Definition
- Clinical diagnosis
- WHO Criteria – one of the following:
-
20 serrated lesions/polyps of any size, distributed throughout the colon with ≥5 being proximal to the rectum.
- At least five serrated lesions/polyps proximal to the rectum, all being ≥5 mm, with at least two ≥10 mm in size.
-
- 20% risk of CRC
Genetic
- Majority do not have a known alter genetic mutation
- Likely genetic component. Some families display AD pattern.
- Some patients with ЅΡЅ carry a mutation in rare polyposis-associated genes including SMAD4, BMPR1A, PTEN, GREM1, RNF43, and MUTYH
- Genetic testing is not routinely recommended as the genetic basis of ЅРЅ is largely unknown.
Management
- Surveillance
- 1-3 yearly from age 40 (or 10 years earlier than family presentation of SPS)
- Intervals based on number/size of polyps.
- Surgery:
- Indications:
- CRC or HGD
- Severe symptoms related to neoplasia
- Multiple adenomas > 6 mm
- Significant increase in polyps since previous scope
- Patient preference to avoid surveillance
- If surgery required, likely IRA as opposed to RPC, but determined by polyp distribution and burden, age/comorbidity and functional outcome.
- Indications: