AB0011 CLINICAL CHARACTERISTICS AND GENETIC EXPRESSION IN A COHORT OF PATIENTS WITH FAMILY MEDITERRANEAN FEVER

Background: Familial Mediterranean fever (FMF) is the most frequent monogenic periodic fever syndrome and is characterized by recurrent episodes of fever, serositis, arthritis, dermal manifestations and long-term renal complications (amyloidosis is the most important complication). The genetic mutation of the disease is found in the MEFV gene located on the short arm of chromosome 16 and is inherited in an autosomal recessive manner. It affects the populations of the Mediterranean basin and is diagnosed according to the clinical evaluation. Objectives: To describe the clinical characteristics of a cohort of patients with FMF and to study the different genetic mutations located in the MEFV gene. Methods: Retrospective descriptive study of patients treated in our Hospital (2008-2018), with FMF diagnosis and MEFV gene mutation. The data was obtained through the review of medical records. Results: We included 52 patients (29 men), mean age 41 years. The following mutations have been identified in alleles of the MEFV gene: Non-pathogenic in 34 patients (65%) (p 202Q 73%, p148Q 17%, p. 319K 6% and p339F 3%). Pathogenic in 18 patients (34%) (pr 202Q 22%, eg 148Q 27%, pr 653H 5%, pm 694V 16%, pi 159T 5%). In 17% of the patients family history was documented. Elevation of acute phase reactants in 41 patients (79%) (C Reactive Protein 75%, Globular sedimentation rate 65%). Echocardiography was performed in 14 patients, with diagnosis of pericardial effusion in 6 of them. Two patients develop renal amyloidosis, one of them (homozygous for the mutation 148Q) died due to this complication. 54% of patients use colchicine as initial treatment, achieving 50% good response with control of symptoms. 19% undergo treatment with glucocorticoids (0.5-1 mg/kg/day), needing to add methotrexate in 1 patient and hydroxychloroquine in another. Four also use biological therapy (1 tocilizumab, 2 anakinra, 1 canakinumab) and 2 thalidomide to control skin manifestations. Conclusion: The genetic study confirms the diagnosis of FMF, allowing it to be differentiated from other SAIs. It also has prognostic value, depending on the mutation detected and if it affects one or both alleles. In our series, the most prevalent symptoms in patients with pathogenic mutations were fever, abdominal pain and arthromyalgia. Disclosure of Interests: None declared