[Familial adenomatous polyposis with extracolonic manifestations--case report]

Abstract

The familial adenomatous polyposis syndrome is an autosomal dominant inherited disease characterized by progressive development of multiple adenomatous polyps throughout the colon and rectum. Due to the malignant potential of adenomatous polyps, colorectal cancer develops in 100% of cases, approximately 10-15 years after the onset of symptoms. Extracolonic manifestations of the disease including adenomatous polyps of the stomach, duodenum, small intestine and periampullatory region are rare. The etiology of the disease is germline mutation at the site of tumor suppressor gene located on chromosomes 5q21-22. A case is described of a 48-year-old man hospitalized at the Department of Abdominal Surgery, Sveti Duh General Hospital in Zagreb for the treatment of familial adenomatous polyposis syndrome. For some time the patient reported occasional abdominal pain, frequent stools and diarrhea with blood, anemia and body weight loss. Laboratory, radiology and endoscopy examinations verified multiple adenomatous polyps of the colon and rectum, also with polyps of the stomach, duodenum and jejunum. Histopathology confirmed the polyps to show moderately poorly differentiated cylindric epithelium and moderate to severe dysplasia. Radical surgery was required, so proctocolectomy with Brook ileostomy was performed. The postoperative recovery and wound healing were normal. The patient was discharged twelve days of the surgery for home care. Oncologic treatment was suggested. Verified extracolonic manifestations of the disease require periodical endoscopic follow up and possible treatment.