The natural history of familial adenomatous polyposis syndrome: A 24 year review of a single center experience in screening, diagnosis, and outcomes

摘要: Abstract Purpose Understanding the natural history of Familial Adenomatous Polyposis (FAP) will guide screening and aid clinical management. Methods Patients with FAP, age ≤ 20 years presenting between 1987 2011, were reviewed for presentation, diagnosis, extraintestinal manifestations, polyp burden, family history, histology, gene mutation, surgical intervention, outcome. Results One hundred sixty-three FAP patients identified. Diagnosis was made by colonoscopy (69%) or genetic (25%) at mean 12.5 years. Most children (58%) asymptomatic diagnosed via due to history. Rectal bleeding most common (37%) symptom prompting evaluation. Colon polyps appeared 13.4 years > 50 time diagnosis in 60%. Cancer found 1 biopsy 5 colectomy specimens. Family known 85%. 53% had testing, which confirmed APC mutation 88%. Extraintestinal manifestations included congenital hypertrophy retinal pigment epithelium (11.3%), desmoids (10.6%), osteomas (6.7%), epidermal cysts (5.5%), extranumerary teeth (3.7%), papillary thyroid cancer (3.1%), hepatoblastoma (2.5%). Six died secondary FAP. Conclusions Clinical presentation pediatric are variable. We suggest an individualized patient-oriented algorithm that allows earlier appropriate