OR7-003 – MEFV genotype, IL1B and role of NLRP3 in FMF

Introduction Familial Mediterranean fever (FMF) is the most common of the hereditary autoinflammatory disorders. FMF is caused by mutations of MEFV gene which encodes for pyrin. It has been recently reported that frequency of FMF-like symptoms decreases from patients carrying two high penetrance mutations towards patients with a single low penetrance mutation. The effectiveness of interleukin (IL)-1b blockers has suggested that IL-1b may play a role in the pathophysiology of the disease. However, evidence of dysregulated IL-1b secretion in FMF patients is so far missing. Moreover, the role of NLRP3 has never been directly examined in FMF patients.