Familial Adenomatous Polyposis Coli (FAP) is a rare genetic disorder characterized by the development of numerous adenomatous polyps in the colon and rectum. These polyps have the potential to transform into cancerous growths over time if left untreated. FAP is an autosomal dominant disorder, meaning it can be inherited from a single affected parent.
Individuals with FAP typically develop multiple polyps in the colon and rectum during adolescence or early adulthood. The number of polyps may vary, but can range from hundreds to thousands. If left unchecked, these polyps have a high likelihood of progressing to colorectal cancer by middle age.
Apart from the gastrointestinal manifestations, FAP can also affect other organs such as the stomach, small intestine, and duodenum, leading to the development of additional polyps and putting individuals at increased risk of developing cancer in these areas.
Since FAP is a genetic disorder, it can be diagnosed through genetic testing to identify specific mutations in the APC (adenomatous polyposis coli) gene. It is important for individuals with a family history of FAP to undergo regular screenings, including colonoscopies, to detect and remove polyps early to prevent cancer development.
The management of FAP usually involves surgical intervention, with the most common treatment being prophylactic colectomy (surgical removal of the colon) to prevent the progression to cancer. Additionally, regular surveillance and follow-up are key components of managing FAP to monitor for potential polyp growth and manage any other associated conditions.
