The improvement of a refractory enterocutaneous fistula with colchicine in a patient with Crohn's disease who had an MEFV gene mutation

Abstract

Enterocutaneous fistulas (ECFs) occurring in the setting of Crohn's disease (CD) are difficult to cure with medical treatment alone and affects a patient's quality of life. A 39-year-old man was diagnosed with an ileocolitis-type CD in 2007. His inflammation was insufficiently controlled despite the administration of an anti-tumor necrosis factor-alpha antibody. Therefore, he underwent subtotal colectomy, terminal ileal resection, and ileostomy for multiple colon and anal stenoses in Dec 2015. The patient subsequently received ustekinumab; however, purulent discharge was observed from a postoperative scar around the umbilicus in July 2019. In July 2021, enteroscopy and magnetic resonance imaging (MRI) showed an ECF extending from the small intestine to the umbilicus. Upon referral to our hospital, laboratory data showed elevated C-reactive protein (CRP) and serum amyloid A (SAA). After receiving colchicine, his purulent discharge disappeared, and his CRP and SAA levels rapidly decreased. Enteroscopy and MRI performed 1 year and 5 months after the administration of colchicine revealed ECF closure. Genetic analysis revealed that the patient harbored an MEFV exon 1 (E84K) mutation.

Keywords: MEFV; Colchicine; Crohn’s disease; Entero-cutaneous fistula; IL-1β.