Skip to main content

BRIEF RESEARCH REPORT article

Front. Pediatr.
Sec. Pediatric Rheumatology
Volume 12 - 2024 | doi: 10.3389/fped.2024.1419200

Potential association between M694V homozygous mutation in Familial Mediterranean Fever and eosinophilic intestinal inflammation: a pediatric case series

Provisionally accepted
Glory Dingulu Glory Dingulu 1,2*Dominique Berrebi Dominique Berrebi 3Cécile Dumaine Cécile Dumaine 2Christine Martinez-Vinson Christine Martinez-Vinson 4Isabelle Melki Isabelle Melki 2,5Jerome Viala Jerome Viala 4Zaba Valtuile Zaba Valtuile 6Caroline Vinit Caroline Vinit 2Jean-Pierre Hugot Jean-Pierre Hugot 4,7Ulrich Meinzer Ulrich Meinzer 2,7,8
  • 1 Assistance Publique Hopitaux De Paris, Paris, France
  • 2 Service de Pédiatrie Générale, Hôpital Robert-Debré, Paris, France
  • 3 Département de Pathologie, Hôpital Robert Debré, Paris, France
  • 4 Service de gastro-entérologie pédiatrique, hépatologie et nutrition, CHU Robert Debré, Assistance Publique Hôpitaux de Paris, Paris, Île-de-France, France
  • 5 Laboratory of Neurogenetics and Neuroinflammation, INSERM U1163 Institut Imagine, Paris, Île-de-France, France
  • 6 INSERM CIC1426 Centre d'Investigation Clinique Robert Debré, Paris, Île-de-France, France
  • 7 INSERM U1149 Centre de Recherche sur l'Inflammation, Paris, Île-de-France, France
  • 8 Institut Pasteur, Paris, Île-de-France, France

The final, formatted version of the article will be published soon.

    Familial Mediterranean Fever (FMF) is the most common hereditary systemic auto-inflammatory disease. Digestive complaint is a common feature during FMF attacks. Nevertheless, digestive complaint in attack-free period has scarcely been studied. This retrospective monocentric study aimed to describe the clinical, histological and genetic features of pediatric patient with FMF who underwent endo-colonoscopy in this setting. Out of 115 patients with a diagnosis of FMF, 10 (8,7%) underwent endoscopy or colonoscopy. All displayed homozygote MEFV M694V mutation and presented chronic abdominal pain, iron deficiency and/or growth retardation. On the histological level, all patients displayed low-grade mucosal inflammation, characterized by a moderate eosinophilic infiltrate in the lamina propria sometimes associated to increased crypt apoptosis. The proportion of patients explored with endoscopy or colonoscopy was 0,4 patient per year in our center, compared to 5,7 patients per year nationwide. This study identified a specific intestinal phenotype that does not respond to criteria of classical Inflammatory Bowel Disease: Pediatric FMF pediatric patients with homozygous MEFV M694V, abdominal pain, iron deficiency and growth retardation should benefit from specialized gastroenterological advice.

    Keywords: Familial Mediterranean Fever, microscopic colitis, Iron metabolism deficiency, Inflammatory bowel disease (IBD), autoinflammatory disease

    Received: 17 Apr 2024; Accepted: 12 Jul 2024.

    Copyright: © 2024 Dingulu, Berrebi, Dumaine, Martinez-Vinson, Melki, Viala, Valtuile, Vinit, Hugot and Meinzer. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Glory Dingulu, Assistance Publique Hopitaux De Paris, Paris, France

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.