Abstract
Mevalonate kinase deficiency-associated periodic fever 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-α blocking agent etanercept and IL-1 blocking agents anakinra and canakinumab have been demonstrated to reduce the frequency of fever attacks in MKD. The course and severity of the disease may be quite different.
Highlights
Mevalonate kinase deficiency-associated periodic fever syndrome 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
A TNF-a blocking agent etanercept and IL-1 blocking agents anakinra and canakinumab have been demonstrated to reduce the frequency of fever attacks in MKD
Summary
Mevalonate kinase deficiency-associated periodic fever syndrome 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. Increasing frequency of fever episodes with steroid use and the natural chronic disease course may require a continuous long-term treatment. A TNF-a blocking agent etanercept and IL-1 blocking agents anakinra and canakinumab have been demonstrated to reduce the frequency of fever attacks in MKD. The course and severity of the disease may be quite different
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