Anakinra: New therapeutic approach in children with Familial Mediterranean Fever resistant to colchicine

Abstract

Familial Mediterranean fever (FMF), a recessively inherited autoinflammatory disorder, is the prototype of a group of disorders termed systemic autoinflammatory diseases. Such diseases are characterized by seemingly unprovoked episodes of inflammation without evidence of high-titer autoantibodies or antigen-specific T cell. Repeated bouts of inflammation may lead to systemic AA protein deposition, making FMF a potentially fatal disease. Pyrin, the protein mutated in FMF, regulates caspase-1 activation and consequently IL-1β production. Although colchicine is the standard prophylactic therapy for attacks and amyloid deposition, some patients fail to respond or cannot tolerate its side effects. Anticytokine therapies have shown promise in the treatment of autoinflammatory disorders in children. We report on the use of the recombinant interleukin 1 receptor antagonist anakinra in one child with therapy-resistant FMF. The patient experienced immediate, sustained resolution of symptoms and laboratory markers of inflammation, and also, possibly, a reduced long-term risk of AA amyloidosis.