A case report of Familial Adenomatous Polyposis (FAP)

Background and Objective: Familial adenomatous polyposis (FAP) is an autosomal dominant disease that caused by mutation of the APC gene and in addition to colon, it can involve stomach and duodenum. Since, the risk of malignancy in FAP is high, early diagnosis and treatment can prevent colorectal cancer. Case: The patient was a 55-year-old man who referred for rectal bleeding and proctalgia from 6 weeks ago. He was examined with anoscope, and rectal mass was observed. In pathological study, rectal adenocarcinoma was reported. B.Enema and total coloscopy were performed for patient and multiple polyps in colorectal were seen. For patient with FAP, total proctocolectomy and permanent ileostomy were performed. There were malignant changes in one sessile polyps with >2.5cm diameter. In colonoscopic examination of patient’s family, 4 of 6 children were with FAP. Conclusion: Although, only 0.5% of all colorectal cancers caused by FAP but early diagnosis and screening in patient’s family can prevent the progress of disease and malignancy