Pediatric familial adenomatous polyposis (FAP) is an inherited syndrome with implications in children and adolescents. It is characterized by the formation of thousands of adenomas in the colorectum, which may develop into colorectal cancer, failing timely identification and treatment in almost all adult patients. In addition, the condition is present in children with polyps developing in the second decade of life, and colonoscopy is essential around age ten.
Etiology Mutations in the adenomatous polyposis (APC) gene on chromosome 5q22 causes the syndrome and is inherited as an autosomal dominant trait. Symptoms Abdominal pain Cramping Vomiting (with blood in the vomit) Bleeding with bowel movements Presence of 100 or >100 adenomatous polyps in the small and/or large intestine Diagnosis Blood test to determine the presence of abnormal gene causing FAP Genetic testing Endoscopic scan…
