P02-008 - Dramatic response to canakinumab in MKD

Introduction Mevalonate kinase deficiency-associated periodic fever syndrome (MKD) is a systemic autoinflammatory disease caused by mutations in the mevalonate kinase gene (MVK), previously named “hyper-IgD syndrome” due to its characteristic increase in serum IgD level. The patients suffer recurrent fever attacks every 2-8 weeks beginning from infancy, often precipitated by immunizations, infections or emotional stress. Fever lasts 2-7 days and can be accompanied by malaise, headache, diarrhea, abdominal pain, vomiting, skin rashes, arthralgia, arthritis, tender lymphadenopathy and hepatosplenomegaly. Fever attacks usually respond to the administration of steroids. However, increasing frequency of fever episodes with steroid use and the natural chronic disease course may require a continuous long-term treatment. Colchicine, cyclosporine, thalidomide and statins are not effective. A TNF-a blocking agent etanercept and an IL-1 blocking agent anakinra have been demonstrated to reduce the frequency of fever attacks in MKD. Canakinumab is a human monoclonal antibody targeted at interleukin-1 beta. Here, we report a 6-year-old boy with MKD who had a dramatic response to canakinumab.