MEFV Gene-Related Enterocolitis Account for Some Cases Diagnosed as Inflammatory Bowel Disease Unclassified

Abstract

Background and Aims: Familial mediterranean fever (FMF), an autoinflammatory disease, is characterized by periodic fever and serositis. An MEFV gene mutation has been identified as the cause of FMF. Recently, patients with MEFV gene mutations and chronic gastrointestinal mucosal inflammation mimicking inflammatory bowel disease (IBD) have been reported. In this retrospective study, we analyzed the clinical characteristics of patients with IBD unclassified (IBDU) with MEFV gene mutations. Methods: MEFV gene analysis was performed on 8 patients with IBDU among 710 patients with IBD who had been treated at Kyorin University Hospital from April 2016 to December 2018. Clinical manifestations, endoscopic findings, and serological markers were also analyzed. Results: The average of the 8 patients with IBDU (3 men, 5 women) was 32.7 ± 6.4 years (range 26-76 years). Their symptoms comprised diarrhea (n = 8, 100%), hematochezia (n = 3, 37.5%), abdominal pain (n = 3, 37.5%), high fever (n = 2, 16.5%), and other periodic symptoms (n = 2, 16.5%). MEFV gene mutation was confirmed in 4/8 of these patients. Colonoscopy showed various mucosal lesions, rectal sparing, right side dominant colitis, pseudopolyposis, and granular protrusions. Colchicine was administered to 5 of the 8 patients (4 with and 1 without MEFV mutation) who were resistant to conventional treatment for ulcerative colitis. Clinical and endoscopic improvement was observed in all of 5 patients treated with colchicine. Conclusions: Some patients diagnosed as having IBDU have enterocolitis related to MEFV gene mutation and respond to colchicine therapy.

Gastrointestinal involvement in a patient with familial Mediterranean fever mimicking Crohn’s disease: a case report

“…However, the endoscopic features of FMF with enterocolitis have not yet been clarified. Based on previous reports, pseudopolyposis-like lesions and rightsided UC-like mucosal lesions with rectal sparing might be the features of endoscopic findings of FMF with enterocolitis [1,6]. In small intestine lesions, several endoscopic findings such as redness, aphtha, erosion, and ulcer have been reported [7,11].…”

“…In 2012, we first reported an IBDU patient with a heterozygous G304R mutation in the MEFV gene, who drastically responded to colchicine treatment alone [1]. Following this report, there have been several reports regarding IBDU patients with MEFV mutations responding to colchicine [2][3][4][5][6]. Based on these clinical cases, we advocated the existence of "MEFV gene-related enterocolitis" within the classification of IBDU.…”

MEFV Mutations in IBD Patients: A Systematic Review and Meta- analysis

“…This hypothesis is supported by epidemiological data, since the clinical association between IBD and FMF was firstly observed in non-Ashkenazi Jews twenty years ago followed by similar reports [13,14]. Since then, several studies have investigated the frequency of MEFV mutations among IBD patients, some with contradictory results [9,[14][15][16][17][18][19][20][21][22][23][24][25].…”

Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease

“…Upon reviewing the existing literature, it was observed that in CD, the severity of the disease increased with the presence of MEFV mutations; moreover, in some case reports, clinical remission could not be achieved with conventional treatments other than biological agents [ 13 ]. In some IBD cases, which carry the MEFV mutation, the disease activity could not be controlled until the colchicine treatment was initiated [ 14 , 15 ]. However, in this study, only in the UC group, surgical requirement rates were higher in patients with MEFV gene mutations than those without mutation.…”