Rheumatology Advance Access originally published online on October 25, 2007
Rheumatology 2007 46(12):1860-1862; doi:10.1093/rheumatology/kem258
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© The Author 2007. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Mevalonate kinase deficiency syndrome with structural damage responsive to anakinra
1Department of Rheumatology, Rouen University Hospital, 76031 Rouen Cedex, 2Inserm Unit 519, IFR23, University of Rouen Medical School, 76183 Rouen Cedex and 3Department of Pediatric Immuno-Hemato-Rheumatology, Necker–Enfants-Malades Hospital, 75743 Paris Cedex 15, France
Correspondence to: T. Lequerré, Department of Rheumatology, Rouen University Hospital, 76031 Rouen Cedex, France. E-mail: thierry.lequerre@univ-rouen.fr
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SIR, mevalonate kinase deficiency (MKD) syndrome is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene. We describe the first case of MKD syndrome with structural damage successfully treated with anakinra.
A 32-year-old French Caucasian woman experienced relapsing flares of progressively destructive bilateral and symmetrical polyarthritis involving small and large joints with morning stiffness (lasting 2–4 h). Synovial fluid, drained several times, was inflammatory and contained an