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P01-033 – Co-occurance of Crohn’s disease and FMF

Introduction

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.

Objectives

To determine the role of polymorphism in NOD2, ATG16L1 and IL-23R genes in FMF-CD, and characterize the clinical correlates of this association.

Methods

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.

Results

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).

Conclusion

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

None declared

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Correspondence to I Ben-Zvi.

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Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution License ( https://creativecommons.org/licenses/by/2.0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( https://creativecommons.org/publicdomain/zero/1.0/ ) applies to the data made available in this article, unless otherwise stated.

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Epstein, A., Ben-Zvi, I., Shinar, Y. et al. P01-033 – Co-occurance of Crohn’s disease and FMF. Pediatr Rheumatol 11, A37 (2013). https://doi.org/10.1186/1546-0096-11-S1-A37

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Keywords

  • Chronic Renal Failure
  • Amyloidosis
  • Familial Mediterranean Fever
  • Biological Treatment
  • Rs1004819 Polymorphism