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Familial Adenomatous Polyposis (FAP)
Familial Adenomatous Polyposis (FAP)

FAP is a genetically inherited condition, which presents as large numbers (maybe hundreds) of polyps in the large intestine during the second decade of life. If these remain untreated, almost all patients will develop colorectal cancer. Radical surgery to remove the colon is often performed during teenage years in order to reduce the risk of cancer.

Cause of FAP

FAP is caused by a germline mutation of the adenomatous polyposis coli (APC) gene. This provides instructions for making the APC protein, which plays a critical role in several cellular processes that determine whether a cell will develop into a tumour.

The inheritance of FAP is autosomal dominant so all individuals carrying the gene mutation have a 50% chance of passing it on to the next generation. Approximately 70% of subjects have inherited the mutated gene, whereas in the other 30%, it develops at the time of conception.
FAP symptoms

Patients with a family history have regular checks for polyps from a young age. But, as FAP can happen with no previous family history, the first sign of it may be bowel symptoms. However, patients often present with no symptoms at all. Some of the symptoms of FAP are:

Blood or mucous in the stools;
Changes in bowel habits;
Abdominal pain;
Weight loss for no obvious reason.

FAP treatment

Patients are managed through regular endoscopic surveillance. Polyps are controlled by ablation or polypectomy. Where this provides inadequate control, the colon, and, possibly, the rectum are removed surgically.

Surgical options include:

Colectomy with ileo-rectal anastomosis;
Proctocolectomy with ileal pouch anal
anastomosis;
Proctocolectomy with permananent
ileostomy.
Surgery does not cure the disease and so surveillance and surgical procedures are necessary for the remainder of the patient's life. Medicines are also used by clinicians to help control polyp number and size, to improve the clinical management.

Rationale for chemoprevention and chemoregression

Each polyp has the potential to develop into cancer. The risk of cancer increases with the number of polyps so, preventing their development, or promoting regression, should reduce the risk of colorectal cancer.

Several critical aspects of the clinical care of patients with FAP are driven, primarily, by the number, size and morphology of the polyps. These include:

Timing and type of surgery;
Frequency of surveillance examinations;
Number of polypectomies.