Purpose of review: Familial Mediterranean fever (FMF) is the prototypic autoinflammatory disease. Although the gene associated with the disease was identified 24 years ago, we still have to learn about the pathogenesis of its inflammation and the variation in the phenotype. In this review, we discuss some recent findings in FMF, such as changes in our understanding of the genetics, aims to define new criteria, and factors contributing to the disease presentation.
Recent findings: We finally have learned why a mutation causing this disease was selected in ancient times; MEFV gene mutations confer resistance to the microbe of plague. A group of experts have outlined recommendations for the analysis of the genetics of FMF. These recommendations complement the new classification criteria, which includes genetic results. In the past year, a number of studies have addressed the contributing factors to the inflammation caused by the mutations in pyrin; this has included epigenetic studies as well. Finally, we have long-term data for the use of anti-IL1 treatment in colchicine-resistant patients.
Summary: We now have recommendations for assessing genetic analysis of the MEFV gene and how to reliably classify a patient as FMF. We await further data to understand the contributing genetic and environmental factors that affect the inflammation and final phenotype in FMF and the extent of the disease presentation.
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