welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
Familial Adenomatous Polyposis in Children and Adolescents
source: Journal of pediatric gastroenterology and nutrition
year: 2010
authors: Alkhouri N, Franciosi J P, Mamula P
summary/abstract: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.
organization: Cleveland ClinicDOI: 10.1097/MPG.0b013e3181e1a224
read more full text source
expertly curated content related to this topic
-
Rectal Eversion and Double-Stapled Ileal Pouch Anal Anastomosis in Familial Adenomatous Polyposis SyndromeINTRODUCTION : Surgery is the only treat...
-
Identification of 5 Novel Germline APC Mutations and Characterization of Clinical Phenotypes in Japanese Patients wi...BACKGROUND : Familial adenomatous polypo...
-
Evaluation of 28 Years of Surgical Treatment of Children and Young Adults with Familial Adenomatous PolyposisBACKGROUND : In this retrospective study...
-
Early Onset of Dysplasia in Polyps in Children with Familial Adenomatous Polyposis: Case Report and Literature Revie...Familial adenomatous polyposis (FAP) is ...
-
Mutational Spectrum of APC and Genotype-Phenotype Correlations in Greek FAP PatientsBACKGROUND : Familial adenomatous polypo...
-
Neonatal Gardner Fibroma: A Sentinel Presentation of Severe Familial Adenomatous PolyposisFamilial adenomatous polyposis (FAP) is ...
-
colleen mitchell’s storyMy name is Colleen Mitchell and I am so ...