Familial Adenomatous Polyposis (FAP)-A Case Study and Review of Literature

Familial adenomatous polyposis (FAP) is a syndrome characteristically having numerous (hundreds to thousands) polyps in the epithelium of the large intestines with an autosomal dominant inheritance caused by germ line mutations in adenomatous polyposis coli (APC) gene in chromosome 5q21. Most FAP patients have a family history of colorectal polyps and cancer but 25-30% of them are "de novo", without any clinical or genetic evidence of FAP in family members. Prophylactic proctocolectomy is required in almost all patients since all affected patients inevitably develop cancer. We report a case of a 32-year-old man who presented with vague abdominal complaints without any family history, which on evaluation as found to have multiple colorectal polyps and underwent a prophylactic proctocolectomy with end continent ileostomy. Two of his children were evaluated and found to have multiple colorectal polyps on colonoscopy and have been advised regular follow up annually. In conclusion, patients with FAP may present with vague abdominal complaints and without any family history, hence need to be carefully evaluated. Good patient compliance is of prime importance in deciding the treatment and surveillance modality subsequently determining the prognosis of patients with FAP.