What is Familial Adenomatous Polyposis (FAP)?
Familial Adenomatous Polyposis (FAP) is a
genetic disorder characterized by the development of numerous adenomatous polyps in the colon and rectum. These polyps are benign initially but have a high potential to become malignant, leading to colorectal cancer if not managed appropriately. FAP is caused by mutations in the
APC gene and is inherited in an autosomal dominant pattern.
How Common is FAP in Pediatrics?
FAP is relatively rare, with an incidence of approximately 1 in 10,000 individuals. However, it is significant in the pediatric population because the polyps can begin to appear in childhood or adolescence, necessitating early
screening and diagnosis.
What are the Symptoms of FAP in Children?
In children, FAP may initially be asymptomatic. As the polyps grow, symptoms can include
gastrointestinal symptoms such as rectal bleeding, abdominal pain, diarrhea, and anemia. Extra-colonic manifestations, like osteomas, dental abnormalities, and congenital hypertrophy of the retinal pigment epithelium (CHRPE), may also be observed.
How is FAP Diagnosed in Pediatrics?
Diagnosis of FAP typically involves genetic testing to identify mutations in the APC gene. If a child is at risk (e.g., has a parent with FAP), regular
screening colonoscopies are recommended, starting in early adolescence. Additional tests, such as upper endoscopy, may be necessary to detect polyps in the stomach and duodenum.
What are the Treatment Options for FAP in Children?
The primary treatment for FAP is surgical. Prophylactic colectomy (removal of the colon) is often recommended to prevent colorectal cancer. Depending on the severity and location of the polyps, different surgical options may be considered, including
total proctocolectomy or
ileorectal anastomosis. Pharmacological treatments, such as NSAIDs, may help reduce the number and size of polyps but are not a substitute for surgery.
What are Some Preventive Measures for FAP?
While there are no preventive measures to stop the genetic mutation causing FAP, early detection and intervention can prevent the progression to colorectal cancer. Families with a history of FAP should consider regular genetic screening and adhere to recommended surveillance protocols to manage the condition proactively.
