A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab
Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2013-01-01
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| Series: | Case Reports in Rheumatology |
| Online Access: | http://dx.doi.org/10.1155/2013/795027 |
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| Summary: | Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl whose clinical picture had started before the end of the first year of life. The patient had consistently elevated IgD levels but no mutations were found after a full-length analysis of the MVK gene. The method of MVK mutational analysis is presented in details. Treatment with canakinumab in a final single dose of 4 mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patients’ quality of life during a 12-month follow-up period. The drug has been well tolerated, and no side effects were observed. |
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| ISSN: | 2090-6889 2090-6897 |