To the Editor:

Patients with familial adenomatous polyposis (FAP) or Hereditary Nonpolyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, are at increased risk for colon cancer. Patients with FAP undergo restorative proctocolectomy and only infrequently develop pouchitis; the reasons for this are unclear. The differential for persistent pouchitis includes Crohn's Disease (CD). Here we present two unique patients, one with a history of FAP and pouchitis who ultimately was found to have CD, and the other with two primary colorectal adenocarcinomas, suspected HNPCC, and discovery of CD upon surgical exploration. In both the development of CD modified disease management.

Case 1

A 60-year-old male with FAP diagnosed at the age of 45 underwent a S-pouch procedure in 1994 with subsequent regular surveillance. In the 2 years prior to the current presentation, he described an increased frequency of loose stools with 6–10 bowel movements per day, abdominal pain, and fatigue. A pouchoscopy performed in July of 2010 revealed aphthous ulcerations and a 2–3-cm friable lesion at the anastomosis, later found to be an adenoma. In March of 2011, pouchoscopy showed two areas of active inflammation, one at 30 cm and the other in the prepouch side of the neoterminal ileum with deep irregular ulcers, erythema, and edema. Biopsies of this area demonstrated mild to moderate active chronic ileitis with ulceration. A computed tomography (CT) scan of the abdomen demonstrated ileal wall thickening. His course was complicated by the development of a perianal abscess with multiple perineal fistulous tracts, which were managed with ciprofloxacin and metronidazole. He was diagnosed with CD and started on 6-mercaptopurine, which was stopped secondary to rash. Pouchoscopy with biopsy in June 2011 showed minimal active disease. Treatment with anti-tumor necrosis factor-α was not started due to the concern for potentiating neoplasm. He is currently managed with ciprofloxacin and metronidazole.

Case 2

A 29-year-old female with a family history of polyposis presented with vomiting and was found to have an intestinal obstruction. Further investigation revealed a mucinous adenocarcinoma of the right colon (T3N2M0) with peritoneal surface involvement and 11 out of 28 positive nodes that was surgically resected in March of 2001. The surgical specimen revealed ulceration of the terminal ileum with chronic inflammation and a diagnosis of CD was made. The patient did well on mesalamine until 2007, when she developed abdominal pain, hematochezia, and diarrhea, at which time prednisone was initiated. Colonoscopy demonstrated a rectosigmoid lesion at 10–12 cm from the anal verge and superficial ulcerations at the ileocolonic anastomosis. Biopsies demonstrated an invasive mucinous adenocarcinoma grade 3 of 4 (T3N1) with signet ring cells. Based on the patient's prior adenocarcinoma, HNPCC was suspected and it was decided to proceed with a total proctocolectomy, end ileostomy, and prophylactic hysterectomy with bilateral salpingo-oophorectomy. She also required 7 cm of small bowel resection due to stricture formation. Surgical exploration revealed metastases to the uterine cul de sac and right uterosacral ligament. Since then the patient is doing well and undergoes regular surveillance.

The association between patients with FAP and Inflammatory Bowel Disease (IBD) is very uncommon and not well described in the literature. Fukushima et al1 described a 40-year-old man with FAP and concurrent CD that was incidentally discovered during surgery, which is similar to our patient who had a family history of colon polyps and was noted to have ulcerations of the surgical specimen that prompted investigation. In addition, Brignola et al2 present FAP and IBD in two families. In both of our patients, treatment regimens and surveillance were adjusted to incorporate the new diagnosis of CD.

Based on the rarity, it is important that physicians be aware of the potential association between FAP and CD, which may complicate the surgical approach or postoperative management with revised surveillance intervals and a conservative treatment regimen. Patients with FAP and Lynch syndrome are already predisposed to developing colorectal cancer. This further complicates treatment options for CD since many immunosuppressants will increase the risk for cancer. Indeed, IBD should be included in the differential diagnosis for a patient with FAP who presents with diarrhea, abdominal pain, or hematochezia, which may be confused with simple pouchitis. Lastly, physicians should be aware that common treatment options for IBD may increase the patient's cancer risk, further requiring stricter surveillance.


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  • 1
    Fukushima K, Funayama Y, Shibata C, et al. Familial adenomatous polyposis complicated with Crohn's Disease. Int J Colorectal Dis. 2006; 21: 730731.
  • 2
    Brignola C, Belloli C, De Simone G, et al. Familial adenomatous polyposis and inflammatory bowel disease associated in two kindreds. Dig Dis Sci. 1995; 40: 402405.

Nicole Gentile MD*, Sunanda Kane MD, MSPH†, * Department of Medicine, Mayo Clinic, Rochester, Minnesota, † Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota.