A Novel Staging System to Assess the Severity of Colorectal Polyposis in Patients with FAP

Familial Adenomatous Polyposis (FAP), a genetic disease that primarily affects the gastrointestinal tract, is caused by a mutation in the Adenomatous Polyposis Coli (APC) gene. One of the hallmarks of this disease is the formation of benign outgrowths known as polyps on the linings of the large intestines and rectum. Although non‐malignant, early presentation of polyps in the colon have been shown to increase the risk of colon cancer by the age of 40 to nearly 100%. As a result, surgeons have traditionally opted to remove the affected colon and/or rectum in an attempt to mitigate the morbidity and early mortality associated with FAP. With the availability of mutational testing and genetic counseling, patients suspected of having FAP are being monitored much earlier on than before. The presence of a known APC mutation can be detected when the patient is as young as 10 – 14 years old. This, coupled with a deeper understanding of genetics, disease progression, and chemo‐interventions such as omega‐3 and COX‐2 inhibitors provides clinicians with a better arsenal of adjunctive care strategies besides surgery to manage the disease. Progressively, patients and their families have opted to defer or, ideally, prevent surgery for the sake of psychological effects and the maturity of the patient at the time of diagnosis. Therefore , it becomes necessary to establish a universal staging system to assess the disease severity of FAP in the colon and rectum so that both doctors and patients can objectively monitor the disease progression to decide upon the most effective and appropriate treatment strategies. Disease severity will be quantified by a numerical from 0–4 depending on the quantity and size of the polyps. Based off the objective score, a specific treatment will be prescribed with surgery for the most severe cases, and routine check‐up for more moderate cases. Grant Funding Source : AAA