What is Familial Adenomatous Polyposis?
Familial Adenomatous Polyposis (FAP) is an inherited disorder characterized by the development of hundreds to thousands of polyps in the colon and rectum. These polyps are benign initially but have a high likelihood of becoming malignant if untreated. FAP is caused by mutations in the
APC gene and is inherited in an autosomal dominant pattern.
How Common is FAP in Children?
FAP is relatively rare, occurring in about 1 in 10,000 to 1 in 30,000 live births. Despite its rarity, it is critical to identify and manage the condition early to prevent the progression to colorectal cancer.
Rectal bleeding
Abdominal pain
Diarrhea
Unexplained weight loss
Additionally, some children may develop extra-colonic manifestations such as
desmoid tumors, dental abnormalities, and congenital hypertrophy of the retinal pigment epithelium (CHRPE).
How is FAP Diagnosed in Pediatric Patients?
Diagnosis of FAP typically involves a combination of genetic testing and endoscopic examination. Genetic testing can identify mutations in the APC gene, confirming the diagnosis. Children with a family history of FAP are often monitored closely and may undergo regular
colonoscopy starting at a young age to detect polyps early.
Surgical intervention: Prophylactic colectomy (removal of the colon) is often recommended to reduce cancer risk.
Pharmacologic therapy: Nonsteroidal anti-inflammatory drugs (NSAIDs) like sulindac and COX-2 inhibitors may be used to manage polyps.
Surveillance: Regular endoscopic surveillance is crucial for early detection and management of new polyps.
What is the Prognosis for Children with FAP?
With early diagnosis and appropriate management, the prognosis for children with FAP can be significantly improved. However, the condition requires lifelong surveillance and management to prevent the development of colorectal cancer and other associated complications.
How Can Families be Supported?
Families affected by FAP require comprehensive support, including genetic counseling to understand the inheritance pattern and implications for other family members. Psychological support is also essential to help families cope with the emotional and practical challenges posed by the condition.
Conclusion
Familial Adenomatous Polyposis is a serious hereditary condition that requires early and proactive management, especially in pediatric patients. Through genetic testing, regular surveillance, and appropriate treatments, the risks associated with FAP can be significantly mitigated, improving the quality of life and prognosis for affected children.
