How does one screen for FAP?
- When family history is positive, children should undergo annual sigmoidoscopic surveillance beginning at age 10 to 12 years.
- When polyps are identified, a full colonoscopy is recommended. Once multiple adenomas are documented, colectomy is recommended.
- Mutational analysis of the APC gene is the most accurate diagnosis.
- Ophthalmoscopic examination for congenital hypertrophy of the retinal pigment epithelium (CHRPE) can detect involved patients as early as 3 months of age with a 97% positive predictive value for developing FAP. CHRPE is present in 55% to 100% of FAP patients.
