Our patient is a 24-year-old black male, who presented to us for the evaluation of persistent abdominal pain, diarrhea, and weight loss. He describes a six-month history of episodic, diffuse, and crampy abdominal pain. Each episode would last about five to ten minutes and was mild to moderate in intensity. The pain would resolve spontaneously, and there were no associated symptoms, aggravating, or alleviating factors. Three months prior to his presentation, he started experiencing loose, watery diarrhea which would occur every two to three days. He described having three to four loose bowel movements per day, with no presence of mucus or blood. He also complained of anorexia and a 10 lb weight loss over the previous three months.
A comprehensive review of systems was otherwise negative. He denied any fever, chills, or any relation of his diarrhea to food intake, and there was no history of nocturnal diarrhea. There was no recent antibiotic use and no history of recent travel or sick contacts. He denies any joint pain, skin rash, or mouth ulcers. There was no history of shortness of breath, cough, wheezing, chest pain, or urinary symptoms.
His past medical history was significant for Lyme disease in childhood and attention-deficit hyperactive disorder. There was no history of surgery in the past. He denied any history of smoking, alcohol use, or recreational drug use. There was no family history of inflammatory bowel disease (IBD), colon cancer, or any other GI malignancies.
On physical examination, the patient appeared malnourished, evident by temporal wasting. His vital signs were generally unremarkable. He weighed 134 lb (60.8 kg) which puts him at a BMI of 17.80 kg/m2. Examination of the gastrointestinal system was unremarkable, with a soft, nontender abdomen, with no visceromegaly. There was no scleral icterus or conjunctival pallor. The remainder of the physical exam was normal.
Results of routine hematology and biochemistry investigations including liver enzymes were all within normal limits. Celiac serology was negative, and stool workup including fecal leukocytes, stool culture, ova and parasites, giardia, and cryptosporidium were all negative. His carcinoembryonic antigen (CEA) was within normal limits.
Colonoscopy showed a circumferentially encasing, partially obstructing, stenotic mass, with overlying granular and inflammatory mucosa in the hepatic flexure (Figures 1(a)-1(c)). The colonoscope could not be negotiated through the mass to evaluate the cecum. The colonic biopsy revealed soft consistency of the mass, and there was excess of bleeding from the biopsy site (Figure 1(c)). The colonic mucosa of the remaining part of the colon appeared normal, and random colon biopsy was obtained. The histopathology of the hepatic flexure mass was significant for focal active chronic colitis with ulceration, polypoid granulation tissue formation, reactive epithelial changes, and noncaseating granulomata formation that was consistent with granulomatous inflammation (Figure 2(a)). Special stains for tuberculosis, fungi, and other microorganisms were all negative. The crypt architecture was preserved (Figure 2(c)), and the histopathological findings were devoid of the basal cell plasmacytosis to conclude to inflammatory bowel disease. Esophagogastroduodenoscopy was performed and was unremarkable; biopsies of gastric and duodenal tissues and subsequent testing for Helicobacter pylori infection, celiac disease, and Whipple disease were all negative.
An abdominal CT scan of the abdomen performed with contrast was remarkable for circumferential thickening of the cecum and ascending colon without any evidence of obstruction. There were perihepatic and pelvic ascites in the cul-de-sac and nodular thickening of the peritoneum in the right lateral abdominal wall and minimally at the omentum. The patient subsequently underwent a laparoscopic peritoneal biopsy. The biopsy specimen showed noncaseating granulomas and confluent granulomatous inflammation. Special stains for tuberculosis and fungi were negative.
A CT scan of the chest was performed and revealed a slightly irregular 1 cm pulmonary nodule in the superior segment of the right lower lobe. The area of nodular sarcoid cannot be excluded. There was also minimal fissural nodularity which could represent underlying sarcoid.
A diagnosis of colonic sarcoidosis was made, and the patient was treated medically with oral prednisone, starting at 40 mg daily for one week with a gradual taper to a target maintenance dose of 5 mg daily over the course of eight weeks. Upon starting prednisone, the patient improved clinically with the resolution of his abdominal pain and diarrhea, along with a 20 lb weight gain, and remained in sustained symptomatic remission after three months of treatment. A colonoscopy performed five months after treatment revealed interval improvement of colonic stenosis resolution of the inflammatory mass, and the scope could be traversed through the stricture (Figure 3(a)). Some mucosal inflammation and granularity could be noted; however, there was significant improvement as compared to the index colonoscopy (Figure 3(b)). The biopsy specimens from the previously involved areas showed chronic mucosal injury with no evidence of dysplasia, malignancy, or noncaseating granulomas (Figure 4).