Yaremenko O.B.1, Sydorova A.O.2

Summary. Relevance. Systemic autoinflammatory diseases are a group of inflammatory disorders caused by dysregulation of the innate immune system. Family Mediterranean fever (FMF) is the most common hereditary autoinflammatory disease, which is characterized by recurrent short-term attacks of fever and serositis, leading to the development of complications in the form of AA amyloidosis. Purpose of the study. To summarize the current literature data about pathogenesis, clinical manifestations, new Eurofever/PRINTO classification criteria, application of molecular genetic testing, and approaches to FMF treatment, to analyze the clinical case within the framework of the updated recommendations. Materials and methods. This article reviews the literature about FMF and autoinflammatory disease and describes a clinical case from our practice with its interpretation. Results. FMF is an autosomal recessive disease associated with a mutation in the MEFV gene, which encodes pyrin, a protein that plays an important role in the inflammatory response due to the uncontrolled release of interleukin 1 (IL-1). Colchicine has been the basis of FMF treatment since 1972, effectively preventing attacks and suppressing subclinical inflammation in most patients. In the absence of a clinical effect, IL-1 blockade may be an alternative therapy. The relative rarity and a wide range of clinical manifestations of FMF often complicate differential diagnosis and delay the initiation of treatment in a significant proportion of patients. A clinical case of this disease with a debut at the age of 30 in a patient of Assyrian origin is described in this article. Мain symptoms were short-term attacks of mono- or oligoarthritis, which were accompanied by fever, resolved spontaneously, and had long asymptomatic periods between them. Conclusions. FMF diagnosis should be based on the clinical picture of the disease, ethnicity of patient, and response to colchicine therapy. Genetic testing plays an important, but limited role in making the diagnosis. Treatment with colchicine or biologic drugs allows patients with FMF to live a normal life without restrictions and a significant risk of complications. The described clinical case demonstrates the evolution of FMF symptoms for 5 years without appropriate treatment.

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