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Hyperimmunoglobulin D Syndrome in Childhood

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Abstract

Hyperimmunoglobulinemia D and periodic fever syndrome, an autoinflammatory syndrome, is caused by mutations in the gene coding for mevalonate kinase. The disease is clinically characterized by recurrent attacks of fever accompanied by an array of inflammatory symptoms including lymphadenopathy, rash, arthritis, and gastrointestinal complaints. Most patients have their first attack in the first year of life, typically after a childhood vaccination. The frequency of attacks is highest during childhood, with a gradual decrease after adolescence. Frequent fever attacks impair quality of life and the achievement of educational milestones. Recent reports show promising results with anakinra and etanercept to treat the attacks.

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Disclosure

Dr. Frenkel has participated in an expert panel for Novartis. No other potential conflicts of interest relevant to this article were reported.

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Authors and Affiliations

  1. Department of Internal Medicine and Infectious Diseases, University Medical Centre Utrecht, PO Box 85.500, 3508 GA, Utrecht, The Netherlands

    Jeroen C. H. van der Hilst & Joost Frenkel

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  1. Jeroen C. H. van der Hilst
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  2. Joost Frenkel
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Correspondence to Jeroen C. H. van der Hilst.

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van der Hilst, J.C.H., Frenkel, J. Hyperimmunoglobulin D Syndrome in Childhood. Curr Rheumatol Rep 12, 101–107 (2010). https://doi.org/10.1007/s11926-010-0086-1

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