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• W2950989986 abstract "Background Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome. The MEFV gene mutation encoding the pyrin protein results in an uncontrolled increase in interleukin-1. Today, more than 333 MEFV mutations have been identified; however, exon 10 mutations are still seem to be best correlated with clinical findings. Objectives In this study, we aim to investigate the role of exon 10 mutations vs non-exon 10 mutations on clinical features and response to treatment in patients with FMF. Methods Data charts of children (n=935) with FMF from Dokuz Eylul University childrens’ hospital and Dr.B.Uz childrens’ hospital were reviewed. Patients were divided into two groups with regard to having exon 10 mutation or non-exon 10 mutations. Genotype-phenotype features and response to treatment were compared. Results There were exon 10 mutations in 631 (67.5%) patients and non-exon 10 mutations in 304 (32.5) patients. The follow-up period was 50 (26-83.2) months. The age of symptoms onset was significantly lower in group with exon 10 positive than compared group with non-exon 10 mutation. There was no difference between the age of diagnosis and colchicine onset and the diagnosis delay time. The symptoms of fever, chest pain, and arthritis were significantly higher in the exon 10 mutation group than compared other group. Biological agent need was statiscally higher in exon 10 mutation group (4.8%) than group with non-exon 10 mutation (1.3%) (Table 1). Conclusion In our study, it was observed that cases with exon 10 mutation have early symptoms of disease. Fever, chest pain and joint findings were more prominent in cases with exon 10 mutation than cases with non-exon 10 mutation. Additionally, colchicine resistance should be kept in mind in cases with exon 10 mutation. References [1] Wang DQH, Bonfrate L, de Bari O, Wang TY, Portincasa P (2014) Familial Mediterranean fever: from pathogenesis to treatment. J Genet Syndr Gene Ther5:248. [2] Ozen S, Demirkaya E, Amaryan G, et all. Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children. Ann Rheum Dis. 2014Apr;73(4):662-7 Disclosure of Interests Hatice Adiguzel Dundar: None declared, ozge altug gucenmez Speakers bureau: Novartis, Abbvie, Ceyhun Acari: None declared, Serkan Turkucar: None declared, Balahan Makay Speakers bureau: Enzyvant, Novartis, Roche, Abbvie, Erbil Unsal Grant/research support from: Novartis, AbbVie, Roche, Kocak Pharma, Speakers bureau: Novartis, AbbVie, Roche, Kocak Pharma" @default.
• W2950989986 created "2019-06-27" @default.
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• W2950989986 date "2019-06-01" @default.
• W2950989986 modified "2023-10-18" @default.
• W2950989986 title "AB0923 EFFECTS OF EXON 10 MUTATIONS VS NON-EXON 10 MUTATIONS ON FMF PHENOTYPE AND RESPONSE TO TREATMENT" @default.
• W2950989986 doi "https://doi.org/10.1136/annrheumdis-2019-eular.1589" @default.
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