S2241 Familial Mediterranean Fever Mimicking Crohn's Disease

Abstract

INTRODUCTION: Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent episodes of fever and polyserosal inflammation. The non-specific symptoms of FMF can mimic a large variety of diseases, particularly Crohn’s disease (CD), as both diseases affect the digestive tract, skin, and joints. This manuscript presents a case of FMF with clinical symptoms that closely resemble CD. CASE DESCRIPTION/METHODS: A 28-year-old female with Melkerson-Rosenthal syndrome presented to the Wake Forest Digestive Health Clinic after genetic testing revealed a mutation in the MEFV (Mediterranean fever) gene. The patient reported a thirteen-year history of recurrent episodes of facial and labial edema, erythema and pain, a two year history of severe episodic abdominal pain, and high fever accompanying her symptomatic flares. Skin biopsy demonstrated granulomatous inflammation suspicious for cutaneous CD. Prior to her presentation, she had five colonoscopies and two esophagogastroduodenoscopies with macroscopically and microscopically unremarkable findings. She also had a normal CT enterography and a negative inflammatory bowel disease (IBD) gene panel. Due to the patient’s lack of GI findings and failure to respond to Humira, cutaneous CD became an unlikely diagnosis. The patient was treated with colchicine, resulting in dramatic symptomatic improvement. Given that her symptoms and response to colchicine met Livneh diagnostic criteria for FMF, FMF was the most likely diagnosis. DISCUSSION: FMF may be easily mistaken for IBD especially in young adult patients. Typical FMF histopathologic findings include esophagitis, gastritis, duodenitis, ileitis, or colitis. Imaging findings typically include ileus, hepatosplenomegaly, ascites, focal peritonitis, or mesenteric adenopathy. This case is one of the only cases in the literature of FMF mimicking CD with entirely unremarkable findings on endoscopy and imaging. Genetic analysis of the MEFV mutation should be considered when patients who are suspected to have CD do not have typical endoscopy findings or respond appropriately to CD treatment.