Ulcerative colitis and familial polyposis

Abstract

Ulcerative colitis is an inflammatory disorder of the GI tract. Its cause is multifactorial including genetic predisposition, immunologic disarray, and luminal microbiota. It is characterized by chronic abdominal pain and bloody diarrhea. Although medical management is utilized with success to suppress chronic inflammation and alleviate symptoms, only surgical options offer a definitive cure for the disease. Surgical treatment modalities range from proctocolectomy and ileostomy, to restorative proctocolectomy (RPC) with an ileal pouch-anal anastomosis (IPAA). Surveillance is still required, especially if a rectal cuff remains. Familial adenomatous polyposis is a disease of genetic predisposition caused by an abnormality of the adenomatous polyposis coli (APC) gene of chromosome 5. Although many patients are asymptomatic, their diagnosis and early intervention is integral to achieving satisfactory outcomes and avoiding early onset colorectal carcinoma. All patients with familial adenomatous polyposis (FAP) will develop malignancy by age 40. Thus, it is imperative to remove the entire colon for treatment. Options for attaining this result include total colectomy with ileorectal anastomosis (IRA), total proctocolectomy with ileostomy and RPC with or without mucosectomy, and IPAA. In addition to surgical intervention, life-long surveillance must be conducted because of the significantly reduced but not eliminated risk of malignant transformation in the retained rectal tissue or ileal pouch.