Familial Mediterranean Fever: Current Approaches to Diagnosis and Treatment

Abstract

Familial Mediterranean fever is a typical monogenic disease with an autosomal recessive inheritance pattern; caused by mutations in the MEFV gene, which encodes the pyrin protein. It is a relatively rare pathology in the practice of paediatricians and rheumatologists of the Russian Federation. The article provides up-to-date data on the disease prevalence, presents a complete clinical picture of the auto-inflammatory syndrome, discusses diagnostic criteria and methods for treating patients with familial Mediterranean fever.

Keywords

• familial mediterranean fever
• periodic fever
• fever of unknown origin
• interleukin 1
• colchicine
• anakinra
• canakinumab