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43. Kongress der Deutschen Gesellschaft für Rheumatologie, 29. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie, 25. Wissenschaftliche Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie

02.-05. September 2015, Bremen

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Interleukin 1 blockade with canakinumab

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

Deutsche Gesellschaft für Rheumatologie. Deutsche Gesellschaft für Orthopädische Rheumatologie. Gesellschaft für Kinder- und Jugendrheumatologie. 43. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 29. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 25. wissenschaftliche Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR). Bremen, 02.-05.09.2015. Düsseldorf: German Medical Science GMS Publishing House; 2015. DocFA.14

doi: 10.3205/15dgrh099, urn:nbn:de:0183-15dgrh0993

Published: September 1, 2015

© 2015 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/.

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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.

Results: 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.