Treatment of familial mediterranean fever with canakinumab in patients who are unresponsive to colchicine

Abstract

Objective: Familial Mediterranean fever (FMF) is the most common inherited monogenic autoinflammatory disease worldwide. It is caused by loss-of-function mutations in the MEFV gene, mostly affecting Eastern Mediterranean population. It is discussed if it should be considered an autosomal-dominant disease with variable penetrance, because heterozygosis mutations are associated with clinicalautoinflammatory manifestations. Colchicine constitutes that the mainstay of FMF treatment shouldbe preventing acute attacks and amyloidosis, and decreasing the chronic inflammation. In colchicine-resistant or intolerant patients, recent insights into the pathogenesis of FMF have made theanti-IL1 treatments important. We aimed to search for the retrospective results of canakinumab treatment in patients with FMF who are unresponsive to colchicine.Methods: In this study, 22 (13 males and nine females) patients with FMF with colchicine resistance/intolerance, age ranging from 6 to 18 years, were included in Ege University Department of PediatricRheumatology. After clinical and genetic diagnosis, colchicine treatment with standard doses wasstarted. After treatment with canakinumab, complete response to treatment was determined as noacute episodes and normal level of acute phase reactants.Results: After canakinumab treatment, 22 patients with FMF who were colchicine-resistant were evaluated. After the treatment, no attack was observed in 19 patients, and the values of acute phasereactants were normal in 22 patients. In three patients, disease attack was observed 16 months afterthe first dose treatment. In all patients, the values of acute phase reactants were found at normal levelduring treatment. No drug-related side effects were observed in any patient.Conclusion: Canakinumab is an effective and safe anti-IL1 agent to reduce attacks in patients with FMFwith no response to colchicine and to reduce the level of high-level laboratory findings associatedwith FMF.