Diagnosing and Managing Familial Adenomatous Polyposis (FAP)

A 30-year-old female presents with innumerable adenomatous polyps throughout the colon, consistent with tubular adenoma. The patient is asymptomatic, except for progressive fatigue and exertional shortness of breath. A workup is essential to confirm the diagnosis of FAP and assess the extent and distribution of polyps. Recommendations include reviewing the colonoscopy report, performing a thorough clinical examination, and considering additional tests like upper endoscopy, thyroid ultrasound, ophthalmologic exam, and dental exam to rule out extra-colonic manifestations. Treatment options discussed include prophylactic total abdominal colectomy, ileorectal anastomosis, restorative proctocolectomy, or total proctectomy with permanent ileostomy. Surveillance and genetic counseling for the patient and first-degree relatives are also recommended.