Familial Adenomatous Polyposis (FAP) - Neonatal Disorders

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 is the Role of Genetic Counseling in FAP?

Genetic counseling is crucial for families affected by FAP. It helps parents understand the risks, inheritance patterns, and implications of the disorder. Counseling can guide decisions regarding genetic testing for at-risk family members and inform them about surveillance programs to monitor for the onset of polyps.

What are the Long-term Prognosis and Follow-up Care for Children with FAP?

With appropriate management, the prognosis for children with FAP can be favorable. Lifelong follow-up care is necessary to monitor for new polyp development and manage any associated complications. Regular endoscopic surveillance of the remaining gastrointestinal tract is essential. Psychological support and nutritional counseling can also be beneficial for the overall well-being of the patient.

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.