Familial adenomatous polyposis (FAP) is a rare (1: 30,000 live birth) autosomal dominant hereditary colorectal cancer syndrome caused by germline mutations in the adenomatous polyposis coli (APC) gene. FAP accounts for 1% of the total colorectal cancers and should be suspected in individuals with more than 10 to 20 cumulative colorectal adenomas. Colectomy with ileorectal anastomosis or ileal-pouch-anal anastomosis (IPAA) is highly recommended in patients with FAP. NSAIDS (Celecoxib) has been approved by the FDA as an adjunct medical treatment to surgical therapy in FAP. Coexisting inflammatory bowel disease with FAP is exceedingly rare and presumably increases the risk of early onset colorectal cancer. Patients with medically refractory colonic Crohn's disease are generally poor candidates for IPAA and require colectomy.Methods:
Clinical and laboratory data were obtained from medical records.Results:
A 21 gentleman with a history of Ileocolonic Crohn's disease with penetrating and fibrostenotic phenotype and FAP presented to the gastroenterology clinic for further management. He was diagnosed with FAP at 8 years of age through genetic testing. A surveillance colonoscopy performed at the age of 12 showed aphthous ulcerations in the rectosigmoid colon and cecum. Biopsies showed evidence of granulomas consistent with Crohn's disease. He was asymptomatic at the beginning except for mild fatigue but later developed symptoms of abdominal pain, weight loss and diarrhea. He was initially treated with 5-ASA agents. His disease progressed and was complicated with rectovesical fistula. He was transitioned to Infliximab monotherapy with initial response but it quickly developed neutralizing antibodies and an undetectable Remicade level. Subsequently Adalimumab was initiated. He was also treated with Celecoxib for chemoprevention. A recent surveillance colonoscopy showed a stricture in the terminal ileum with moderate to severely active inflammation. Multiple polyps in the entire colon were seen. Adalimumab level was adequate. Surgical resection of the diseased ileum and colon with a permanent ileostomy was recommended, but the patient declined. Given his rectal sparing Ileorectostomy was discussed with him but he decided to continue with surveillance strategy and chemoprevention rather than surgical options. He was initiated on vedolizumab.Conclusions:
In this report we present a challenging case of Crohn's in the setting of FAP with regards to medical management and surgical options. In general these patients are not good candidates for IPAA; as such coleotomy with permanent ileostomy is often performed in this setting. Ileorectostomy can be offered to those with favorable rectal polyp burden who refuse to undergo ileostomy. Chemoprevention can be performed in this situation as studies have shown that Celecoxib is safe in IBD patients and can be used in concomitant disease with FAP.