Familial Mediterranean fever in Armenian children with inflammatory bowel disease

• Published in: Frontiers in pediatrics Vol. 11; p. 1288523
• Main Authors: Amaryan, Gayane, Sarkisian, Tamara, Tadevosyan, Artashes, Braegger, Christian
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 12.02.2024
• Subjects: children; clinical characteristics; familial Mediterranean fever; genetic characteristics; inflammatory bowel disease; Pediatrics; genetic characteristics; familial Mediterranean fever; children; clinical characteristics; inflammatory bowel disease
• ISSN: 2296-2360; 2296-2360
• DOI: 10.3389/fped.2023.1288523

Inflammatory bowel disease (IBD) and familial Mediterranean fever (FMF) are inflammatory diseases with complex interactions among genetic, immune, and environmental factors. FMF is a monogenic autoinflammatory disease, characterized by recurrent febrile attacks and polyserositis, and is manifested mainly in childhood. FMF is widespread in Armenia. There are reports on the concurrent occurrence of FMF and IBD. gene mutations may have a disease-modifying effect on IBD. We have investigated the frequency of mutations and FMF in Armenian children with IBD and their influence on the clinical course. A total of 69 untreated IBD patients under 18 years of age were enrolled: 52.1% (36) had ulcerative colitis (UC), 21.7% (15) had Crohn's disease (CD), and 26.0% (18) had unclassified colitis (IBD-U). The frequency of FMF among them was 36.2% (25/69), and mutations were identified in 53.6% (37/69). The highest rate of mutations and FMF was in UC patients (61.1% and 41.6% respectively). In all, 56.7% (21/37 of IBD patients with mutations had mutated alleles, mainly in compound heterozygous and heterozygous states. There were no associations in the group of IBD patients with coexisting FMF (25), either between any mutation and type of IBD or coexistence of FMF. Overall, 36.0% (9/25) of them developed VEO IBD and carried mainly the mutation. We concluded that the carrier frequency of mutations among Armenian pediatric IBD patients was rather high (53.6%), especially for UC. It was suggested that the MEFV gene is not necessarily a susceptibility gene but most likely modifies the course of IBD. genetic testing was recommended for Armenian pediatric IBD patients, especially for VEO UC and IBD-U, atypical IBD course, or resistance to the conventional treatment. They should also be asked for isolated febrile attacks, recurrent arthritis, and family history, even in the absence of FMF typical symptoms, to rule out FMF and its complications.