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24. Jahrestagung der Deutschen Gesellschaft für Pädiatrische Infektiologie (DGPI)

Deutsche Gesellschaft für Pädiatrische Infektiologie (DGPI)

28.04. - 30.04.2016, Frankfurt am Main

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Fever of unknown origin: Interleukin 1 Blockade with Canacinumab for Hyper IgD Syndrome (HIDS)

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  • Jürgen Brunner - Medizinische Universität Innsbruck, Department Kinder- und Jugendheilkunde, Innsbruck, Österreich
  • Elisabeth Binder - Medizinische Universität Innsbruck, Department Kinder- und Jugendheilkunde, Innsbruck, Österreich
  • Daniela Karall - Medizinische Universität Innsbruck, Department Kinder- und Jugendheilkunde, Innsbruck, Österreich
  • Johannes Zschocke - Sektion für Humangenetik, Medizinische Universität Innsbruck, Innsbruck, Österreich
  • Christine Fauth - Sektion für Humangenetik, Medizinische Universität Innsbruck, Innsbruck, Österreich

Deutsche Gesellschaft für Pädiatrische Infektiologie. 24. Jahrestagung der Deutschen Gesellschaft für Pädiatrische Infektiologie (DGPI). Frankfurt am Main, 28.-30.04.2016. Düsseldorf: German Medical Science GMS Publishing House; 2016. Doc16dgpi30

doi: 10.3205/16dgpi30, urn:nbn:de:0183-16dgpi303

Published: April 28, 2016

© 2016 Brunner et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. See license information at http://creativecommons.org/licenses/by/4.0/.

Outline

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Introduction: Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM# 260920) is a rare autosomal recessive autoinflammatory condition caused by mutations in the MVK gene, which encodes for mevalonate kinase. There is no standard treatment for HIDS.

Case report: We report on a 2 year-old Austrian boy with recurrent episodes of fever, febrile seizures, arthralgias, and splenomegaly. Rash and abdominal pain were also seen occasionally. During attacks an acute-phase response was detected. Clinical and laboratory improvement was seen between attacks. These findings led to the tentative diagnosis of HIDS. Sequencing of the MVK gene showed a homozygous c.1129G>A (p.Val377Ile, also known as V377I) mutation in the child, while the healthy non-consanguineous parents were heterozygous. The mutation is known to be associated with HIDS.

Therapy with nonsteroidal anti-inflammatory drugs during attacks had poor benefit. A further febrile episode resulted in a status epilepticus. Treatment with canakinumab was initiated and a final dose of 4 mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patient's quality of life during a 6-month follow-up period. The drug has been well tolerated, and no side effects were observed.

Conclusion: Treatment with canakinumab is a therapeutical option for patients with HIDS.