Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene
A 12-year-old boy was referred to the Children's Medical Center Hospital, the Pediatrics Center of Excellence in Iran, for evaluation of episodic fever, abdominal pain, and bloody diarrhea. He has experienced these symptoms since 9 years ago. In some of the episodes, he also suffered from nausea and vomiting. The attacks recurred bimonthly recently, which lasted 2 to 3 days.\nOn the admission, the patient was febrile (39.1℃), and complained of abdominal pain and bloody diarrhea. The abdomen was diffusely mildly tender, but without organ enlargement. Rectal examination revealed watery stool with traces blood. No fissure, no tag, and no hemorrhoid were detected.\nLaboratory tests showed erythrocyte sedimentation rate 57, C-reactive protein 157 mg/L (normal, <20 mg/L), hemoglobin 12.7 g/dL, white blood cells 13,400/mm3, neutrophil count 8,300/mm3, eosinophil count 340/mm3, and platelet 376,000/mm3. Serum electrolytes were normal; Other laboratory results were as follow: prothrombin time 13, international normalized ratio 1, partial thromboplastin time 30, serum cholesterol 127 mg/dL, serum triglyceride 58 mg/dL, aspartate aminotransferase 20 U/L, alanin aminotransferase 11 U/L, alkaline phosphatase 338 IU/L, and serum albumin 4.8 g/dL. Blood culture was negative. Stool examination showed no ova, no parasite, white blood cells 3 to 5, red blood cells many; stool culture showed normal flora. Urine analysis was also normal, and urine culture was negative. Perinuclear antineutrophil antibody was negative and antisaccharomyces cervisiae antibody was 7.1 (normal, <20). Serum immunoglobulin levels were also normal, except high serum immunoglobulin E. Chest and abdominal X-rays and abdominal ultrasonography were all unremarkable. The upper GI series showed mild enhancement of jejunal folds. The esophagogastroduodenoscopy was unremarkable, while biopsies of esophagus, antrum, fundus, duodenum, and jejunum were normal. Three days later, colonoscopy, sent up to terminal ileum, was done, but no apparent pathologic finding was detected. Multiple biopsies were obtained, while the crypts appearance was normal; no inflammation, no crypt abscess, and no infiltration in lamina propria were detected. Gablet cell depletion and vasculitis were not detected.\nAfter exclusion of possible structural defects, and as of suspicious to FMF, genetic studies were performed. Sequencing of the MEFV gene showed compound heterozygote mutations of M680I/R761H. Therefore 1 mg/day of colchicine was administered; subsequently, he responded well with total remission.