A 21-year-old Japanese man visited a proctology clinic because of anal pain in July 2015. The patient was diagnosed as having anal fistulas, and was subsequently treated with seton drainage. He had been suffering from recurrent diarrhea and weight loss of 14 kg during the past 2 years. His father and one of his brothers had been diagnosed as having UC. In September 2015, the patient visited a gastroenterological clinic because of severe abdominal pain with high fever of 39 C. Colonoscopy showed longitudinal ulcers in the terminal ileum and aphthous erosions in the colorectum. Since he was suspected as having CD, 1.5 g/day of oral mesalazine was initiated and then he was referred to our hospital.
At the time of the first visit, the patient presented with fever of 39 C, abdominal pain and recurrent stomatitis. His body mass index was 14.9 kg/m2. Physical examination revealed tenderness in his epigastrium. The laboratory data showed a white blood cell (WBC) count of 14,040/muL (neutrophils: 90.0%), serum C-reactive protein (CRP) 13.16 mg/dL, total protein 6.9 g/dL and albumin 3.8 g/dL. The interferon-gamma release assay (T-SPOT tuberculosis blood test) and cytomegalovirus antigenemia test showed negative results. The bacterial cultures from blood and fecal samples detected no infectious pathogens. Because of the possibility of mesalazine allergy, we ceased the medication of mesalazine. Three days later, however, both his fever and abdominal pain had resolved spontaneously with laboratory data of 4970/muL (neutrophils: 58.4%) in WBC count and 0.52 mg/dL in serum CRP value.
Colonoscopy revealed longitudinal ulcers in the terminal ileum and multiple aphthous erosions in all areas of the colorectal mucosa (Fig. 1A, B). These endoscopic findings suggested a diagnosis of CD. Esophagogastroduodenoscopy (EGD) revealed multiple linear erosions in the gastric corpus (Fig. 1C) and circular erosions in the duodenal second portion. Although none of the biopsy specimens from these erosions, ulcerative lesions and normal-appearing mucosa revealed any evidence of epithelioid cell granulomas (Fig. 1D), we clinically diagnosed the patient as having CD, and intravenous administration of infliximab 5 mg/kg was started. However, his symptoms of fever and abdominal pain recurred 5 days after the start of infliximab. Both WBC count (38,800/muL and serum CRP level (6.56 mg/dL) further increased.
Thereafter, we suspected the possibility of FMF because his symptoms met the Tel-Hashomer major criteria of 3 recurrent typical attacks. The patient was subsequently given 0.5 mg of colchicine per day. His fever and abdominal pain promptly subsided. We subsequently searched for mutations in exons 1-3, 5, and 10 in MEFV. As a result, he was found to have compound heterozygous mutations of E148Q/L110P in exon 2 of MEFV. Based on these findings, we finally made a definitive diagnosis of FMF in this patient. Oral administration of colchicine was continued, whereas infliximab was discontinued after 4 times administration (0, 2, 6, 14 weeks). Follow-up colonoscopy 6 months later demonstrated that both the longitudinal ulcers in the terminal ileum and aphthous lesions in the colorectum had completely disappeared (Fig. 2A, B).