THE DREADED DESMOID: MANAGING DESMOID DISEASE IN PATIENTS DESIRING AN ILEAL POUCH IN FAMILIAL ADENOMATOUS POLYPOSIS

Objectives: FAP (familial adenomatous polyposis) is a rare autosomal dominant inherited mutation of the APC gene associated with colorectal adenomatous polyposis and high risk of colorectal cancer. Attenuated forms of APC exist and are characterized by a less ‘severe’ phenotype. Timely surgery to prevent cancer is a mainstay of management; however, surgical decision-making must be individualized and include patient desires and consideration of mutation phenotype and other disease-related patient factors. In this case report, we highlight a patient with an attenuated form of FAP who desired maintenance of intestinal continuity, and discuss the role of desmoid disease in the decision for surgery in these complex patients. We describe a 41 year old obese male with attenuated FAP who presented with less than 100 colonic polpys, but a large dysplastic polyp in the upper rectum. He desired restoration of intestinal continuity. For clearance of polyps, including the large and concerning dysplastic upper rectal polyps, he initially underwent a total colectomy with removal of the upper rectum. Pathology revealed high grade dysplasia with no invasive cancer. He completed a weight loss program to achieve a BMI less than 30 to be suitable for surgery. He desired a completion proctectomy with ileoanal pouch creation to manage his disease and allow for stoma-free living, but was noted to have a large mesenteric mass on pre-operative imaging. Intraoperatively, he was noted to have several tumors in his small bowel mesentery that created a significantly-foreshortened small bowel mesentery. Frozen biopsies were sent intraoperatively and confirmed desmoid disease. At that point, multiple small bowel lengthening procedures were performed and several desmoid tumors were carefully resected but adequate length for an ileoanal anastomosis was not achievable. Endoscopic surveillance of the remaining rectum revealed no concern for existing invasive cancer, and an ileal pouch-rectal anastomosis was performed. The patient had an uneventful postoperative course, achieved good quality of life and bowel function, and is complying with a rigorous rectal surveillance program. This case highlights the complexity of surgical decision making in FAP, particularly when extraintestinal manifestations of the syndrome are present. It shows how important it for clinicians who manage patients with genetic and inherited colorectal cancer syndromes to have experience and expertise in the field so that these patients may achieve the best outcomes.

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