Institutional members access full text with Ovid®

Share this article on:

Familial Adenomatous Polyposis in Children and Adolescents

Alkhouri, Naim*; Franciosi, James P; Mamula, Petar

Journal of Pediatric Gastroenterology and Nutrition: December 2010 - Volume 51 - Issue 6 - p 727–732
doi: 10.1097/MPG.0b013e3181e1a224
Original Articles: Gastroenterology

Background: Familial adenomatous polyposis (FAP) is the most common inherited polyposis syndrome characterized by the development of hundreds of colorectal adenomatous polyps. The aim of this study was to review cases of FAP diagnosed at The Children's Hospital of Philadelphia in a 16-year period.

Methods: Medical records of patients diagnosed as having FAP between 1990 and 2005 were reviewed. The collected data included disease presentation, genetic profile, extraintestinal manifestations, surveillance, and treatment.

Results: We identified 12 patients with FAP. The age range at presentation was 7 to 18 years. Seven (68%) patients presented due to symptoms, the most common of which was rectal bleeding (6 patients, 86%). The youngest age at which polyps were detected was 7 years. Eight patients (67%) had positive family history. Three patients had Gardner syndrome and 1 presented in infancy with hepatoblastoma. Four patients had adenomatous polyposis coli gene mutation identified. One patient was diagnosed as having rectal carcinoma in situ. Six patients (50%) had gastric fundic gland polyposis and 6 had duodenal adenomatous changes. Capsule endoscopy was performed in 3 patients; 1 had multiple polyps in the duodenum and the jejunum. Seven patients (58%) underwent total colectomy with no serious complications.

Conclusions: FAP is a rare condition but with significant risk of cancer and comorbidity. In this series, patients commonly presented to medical attention due to their symptoms. The youngest patient with polyps detected was 7 years old. We identified 1 patient with rectal cancer in situ and high proportion of patients with duodenal adenomatous lesions. Majority of patients underwent early colectomy.

*Department of Pediatric Gastroenterology and Nutrition, Children's Hospital, Cleveland Clinic, Cleveland, USA

Division of Gastroenterology, Hepatology, and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA

Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Received 13 November, 2009

Accepted 31 March, 2010

Address correspondence and reprint requests to Petar Mamula, MD, Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, 34th St and Civic Center Blvd Philadelphia, PA 19104.

The authors report no conflicts of interest.

Copyright 2010 by ESPGHAN and NASPGHAN