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Background: Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease, characterized by recurrent episodes of fever, abdominal pain, arthritis, and rash. Even though, colchicine is the ideal treatment, an important number of patients continue to be resistant. Objectives: To determine associations between phenotype and colchicine resistant with phenotype. Methods: Patients under active follow-up for the Autoinflammatory Diseases Unit of Virgen del Rocio University Hospital of Seville from 2010 to 2023 were included. Genotyping of the familial Mediterranean fever gene (MEFV) was performed. Colchicine resistant was defined by 2016 EULAR guideline. Data on their biological, clinical characteristics and treatment received were collected. SSPS statistical package version 26 was used for the analysis. Results: Sixty-four patients were included. The mean age at the time of diagnosis was 36.8 years, 59% were female. All patients had undergone a genetic study, with 42,4% presenting polymorphism, 40,6% pathogenic and 17.2% low penetrance mutations. Heterozygosity was 87.5%. Mutation locations were on exon-2 (77.5%), exon-9 (10.4%) exon-3 (6.2%), exon-10 (6.4%) and exon-4 (1,5%). Most prevalent mutations were p.R202Q (51%), p.E148Q (17%) and p.I591T (9%). Forty-two percent were asymptomatic carriers. No significant differences were found between the affected exon and the character of the mutation and the presence of classic clinical manifestations of FMF, except for a higher prevalence of headache in non-exon-2 mutations (18.4% Vs 46.7%, p = 0.021). Regarding the therapy used, 58 % received treatment, 36% were on colchicine treatment and 22% were colchicine resistant. No relationship was found between the type of mutation and the presence of colchicine resistance. Patients with colchicine resistance (n=14) were mainly women (71%, p 0.029) with higher frequency of arthritis (64% vs 20%, p 0.001) and myalgias (85% vs 44%, p= 0.005) than the colchicine-responsive group. Conclusion: Based on our study, FMF patients with non-exon-2 mutations presents with headaches more. Patients with FMF refractory to colchicine were women with a clinical presentation dominated by the presence of arthritis and myalgias. The identification of this subgroup of patients will allow early treatment with interleukin-1 blockade to avoid long-term complications. REFERENCES: 1 Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Annals of the Rheumatic Diseases 2016;75:644-651. Acknowledgements: NIL. Disclosure of Interests: None declared.
Gonzalez‐Estrada et al. (Sat,) studied this question.