Volume 11 Supplement 1
P01-033 – Co-occurance of Crohn’s disease and FMF
© Epstein et al; licensee BioMed Central Ltd. 2013
Published: 8 November 2013
There is an increased prevalence of Crohn's disease (CD) in familial Mediterranean fever (FMF). Previous studies found that neither MEFV, nor NOD2/CARD15 may serve as susceptible genes, leading to FMF-CD comorbidity. In addition to NOD2/CARD15 polymorphism, ATG16L1 and IL-23R gene SNPs were also found to predispose to Crohn's disease (CD). The role of these genes in the occurrence of FMF-CD is currently unknown.
To determine the role of polymorphism in NOD2, ATG16L1 and IL-23R genes in FMF-CD, and characterize the clinical correlates of this association.
To enrich for CD associated genes with possible effect on the occurrence of FMF-CD, we identified all patients with FMF-CD in our computerized registry of approximately 12,000 FMF patients. All patients were tested for MEFV, NOD2, ATG16L1 and IL-23R relevant gene mutations and completed a questionnaire, detailing the phenotype of their disease. CD diagnosis was established by typical clinical, radiological and endoscopic findings, while a diagnosis of FMF was determined based on our established set of criteria.
Nineteen patients with FMF-CD were identified. Of them, 17 consented to participate in this study (8 females, 9 males). All patients were of North-African origin. Ten patients (58%) were carriers of the MEFV M694V mutation (5 homozygous). Eight patients (47%) needed biological treatment to control their CD. Two patients (11.7%) had amyloidosis with chronic renal failure. When compared to published patients with CD alone, the FMF-CD group had comparable rate of Gly908Arg NOD2 mutation (19% vs. 9.8%, P=0.2), Thr300Ala ATG16L1 mutation (78% vs. 58%, p=0.14) but significantly increased rate of the rs1004819 polymorphism in IL-23R (61% vs. 38%, p=0.006).
The rs1004819 IL-23R polymorphism predisposes for the occurrence of FMF-CD. In patients with this comorbidity, the CD appears to be more severe.
Disclosure of interest
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.