Case Report on Familial Adenomatous Polyposis Syndrome

Suman Choudhary, Dhananjay Ghodke

Abstract: Familial adenomatous polyposis (FAP) is an inherited autosomal dominant disorder to due mutation of the tumor suppressor adenomatous polyposis coli (APC) gene located on chromosome 5q21-2. FAP is characterised by numerous intestinal adenomatous polyps, most commonly affecting large bowel. Most of the patients have family history. We reported a case of 36 years old female, who presented with acute abdominal pain, vomiting and loose stools and multiple previous hospitalisations with similar complaints. Her elder sister use to have similar complaints and was expired at young age. On evaluating the patient, she had multiple colonic polyps, ascites, dilated biliary system and pancreatitis. Her haemoglobin levels are decreasing and stool for occult is positive. Colonoscopy with biopsy is planned as largest polyp was around 2 cm so risk of malignancy is high. Total colectomy or proctocolectomy with ileoanal anastomosis is considered. More research is needed to understand the associations of FAP and their pathophysiology and guidelines for screening and treatment for this condition.

Keywords: Familial adenomatous polyposis, FAP, APC gene mutation, colonic polyps, total colectomy