IL1-blocking therapy in colchicine-resistant familial Mediterranean fever

Abstract

Objective: Approximately 10%-20% of patients with familial Mediterranean fever (FMF) show aninadequate response to colchicine. In our cohort study, patients with FMF with or without amyloi-dosis and with an inadequate response to colchicine were treated with anakinra or canakinumab.Methods: Clinical and laboratory parameters, Mediterranean fever (MEFV) mutations, and pa-tient-reported outcomes were analyzed in 31 patients treated with anakinra or canakinumab.Results: In a cohort of 250 adult patients with FMF, 31 patients were treated with anakinra (n=29) orcanakinumab (n=2). The median Pras FMF severity score was 8 (range, 5-14) and correlated with thepresence of high-penetrance MEFV mutations (p.Met-694-Val or p.Met-680-Ile). The FMF severityscore was 11 in patients with two high-penetrance MEFV mutations (68%), 9 in those with a singlehigh-penetrance MEFV mutation (19%), and 7.5 in those without high-penetrance MEFV mutations(13%, p=0.2). FMF-related amyloid A amyloidosis was diagnosed in 12 (39%) patients. Anakinra wasused daily in 20 patients, thrice a week in 7, and upon demand during attacks in 2. Two patientswere treated with canakinumab. IL-1-blocking treatment showed a rapid (2±3 days) and persistentsuppression of FMF symptoms and inflammatory parameters. The frequency of FMF attacks wassignificantly reduced (p