The patient was followed in our family cancer risk clinic because he belonged to a family with FAP. At the age of 16 colonic phenotype became evident and genetic testing was performed at age 18. Prophylactic proctocolectomy with J-ileal pouch and ileo-anal anastomosis was performed when he was 26 years old and he maintained sphincteric tone with good continence and about 4 bowel movements per day. Annual physical examination, laboratory screening and endoscopic evaluation of the pouch was performed as well as upper gastrointestinal endoscopy as dictated by the Spigelman score (last upper gastrointestinal endoscopy performed 3 months before symptoms).
One year before bloody diarrhea and weight loss were noted, multiple ulcers were seen on a routine pouch evaluation. At that time he was completely asymptomatic, hemoglobin levels were normal, and he mentioned a 7-day course of nonsteroidal anti-inflammatory drugs for dental pain. Biopsies showed subacute inflammation. Nonsteroidal anti-inflammatory drugs enteropathy was assumed at that time.
Investigation consisted of upper gastrointestinal endoscopy with findings of mild esophagitis and duodenal polyposis (Spigelman II), and pouch endoscopy showed no abnormal features. Stool cultures were negative. Small bowel capsule endoscopy showed multiple deep ulcers, some of them >2 cm long, and a hyperemic and congestive surrounding mucosa (fig. 1). Ileoscopy up to 60 cm from the anal verge was performed and multiple biopsies were taken from the ulcerated surface (fig. 2). Histology showed ulceration, regenerative changes, inflammation with lymphoid follicle formation and numerous polymorphonuclear cells infiltrating the submucosa. CD was assumed. MRI enterography showed no abnormal findings other than mucosal uptake in the jejunum and ileum.
We considered him to be a high-risk patient as he was a young smoker, with severe small bowel involvement from CD including the upper gastrointestinal tract (jejunum), already submitted to small bowel surgery (ileal pouch). After the mandatory viral serology tests and latent tuberculosis screening, 60 mg of oral prednisolone was started, with slow tapering during 12 weeks, while azathioprine was escalated up to 2.5 mg/kg. Iron supplementation was started. One year after diagnosis of CD the patient is symptom-free, has gained back 8 kg and has a normal hemoglobin level with replenished iron reserve.