Villalón-López JS, Souto-del Bosque R, Méndez-Sashida PG

Language: Spanish
References: 16
Page: 594-597
PDF size: 81.5 Kb.

ABSTRACT

Introduction: Familial adenomatous polyposis (FAP) is a rare disease caused by a mutation in the adenomatous polyposis coli gene (APC).
Case report: We report the case of a 32-year-old woman, with abdominal pain and increased abdominal perimeter, as well as melena and weight loss. She had a tumor of 12 cm in diameter in the right iliac fossa. After the administration of contrast media we found the abdominal tumor compatible with sarcoma versus desmoid tumor. We performed a colonoscopy and we found colorectal polyps. The biopsy reported tubulovillous adenomas. A panendoscopy showed polyps in fundus and body of stomach; the state of the duodenum was normal. Tumor resection was performed with abdominal wall reconstruction with mesh and restorative proctocolectomy with ileoanal reservoir and a temporary ileostomy. The histopathology report demonstrated an abdominal wall desmoid tumor and identifi ed 152 tubulovillous polyps which affected all the portions of colon and rectum.
Conclusions: FAP is an autosomal dominant disease caused by a mutation in the APC gene which results in the development of multiple colorectal polyps. Described in 1991 the APC gene is located at chromosome region 5q21. Without prophylactic surgery, virtually all patients develop colorectal cancer in the third decade of life. Desmoid tumors and duodenal polyps are now the leading cause of death in patients with FAP.

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