The natural history of familial adenomatous polyposis syndrome: a 24 year review of a single center experience in screening, diagnosis, and outcomes.
OBJECTIVE
Understanding the natural history of Familial Adenomatous Polyposis (FAP) will guide screening and aid clinical management.


METHODS
Patients with FAP, age ≤20years presenting between 1987 and 2011, were reviewed for presentation, diagnosis, extraintestinal manifestations, polyp burden, family history, histology, gene mutation, surgical intervention, and outcome.


RESULTS
One hundred sixty-three FAP patients were identified. Diagnosis was made by colonoscopy (69%) or genetic screening (25%) at mean age of 12.5years. Most children (58%) were asymptomatic and diagnosed via screening due to family history. Rectal bleeding was the most common (37%) symptom prompting evaluation. Colon polyps appeared by mean age of 13.4years with >50 polyps at the time of diagnosis in 60%. Cancer was found in 1 colonoscopy biopsy and 5 colectomy specimens. Family history of FAP was known in 85%. 53% had genetic testing, which confirmed APC mutation in 88%. Extraintestinal manifestations included congenital hypertrophy of the retinal pigment epithelium (11.3%), desmoids (10.6%), osteomas (6.7%), epidermal cysts (5.5%), extranumerary teeth (3.7%), papillary thyroid cancer (3.1%), and hepatoblastoma (2.5%). Six patients died secondary to FAP.


CONCLUSIONS
Clinical presentation and manifestations in pediatric FAP are variable. We suggest an individualized patient-oriented screening algorithm that allows for earlier screening and appropriate management.
Division of Pediatric Surgery, Department of Surgery, Mayo Clinic, Rochester, MN 55905. Electronic address: kennedy.raelene@mayo.edu.
Raelene D
RD
Kennedy
Division of Pediatric Surgery, Department of Surgery, Mayo Clinic, Rochester, MN 55905.
D Dean
DD
Potter
Division of Pediatric Surgery, Department of Surgery, Mayo Clinic, Rochester, MN 55905.
Christopher R
CR
Moir
Division of Gastroenterology and Hepatology, Department of Pediatrics, Mayo Clinic, Rochester, MN 55905.
Mounif
M
El-Youssef
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D000293:Adolescent; D017668:Age of Onset; D000465:Algorithms; D000714:Anastomosis, Surgical; D058070:Asymptomatic Diseases; D002648:Child; D002675:Child, Preschool; D003113:Colonoscopy; D003125:Colostomy; D018450:Disease Progression; D005192:Family Health; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D005820:Genetic Testing; D006801:Humans; D006984:Hypertrophy; D007081:Ileostomy; D007223:Infant; D007422:Intestines / Q000601:surgery; D008297:Male; D009369:Neoplasms / Q000453:epidemiology / Q000235:genetics; D055213:Retinal Pigment Epithelium / Q000473:pathology; D012189:Retrospective Studies; D063189:Symptom Assessment; D014096:Tooth, Supernumerary / Q000453:epidemiology / Q000235:genetics; D055815:Young Adult
Familial adenomatous polyposis; Pediatric; Screening