Hyperimmunoglobulin D Syndrome / Mevalonate Kinase Deficiency
Overview
Hyperimmunoglobulin D syndrome, also called mevalonate kinase deficiency, is a rare, inherited condition that causes children to have repeated episodes of fever along with symptoms such as abdominal pain, joint pain, mouth sores, and a body-wide rash. It's caused by a change in the gene responsible for an enzyme involved in normal cell function, and it can affect any child from infancy onward, though it's seen more often in children of European descent. The fever episodes come and go every few weeks, and while there's no cure, treatment can reduce how often and how severely they occur.
Questions to Ask Your Doctor
- What blood, urine, or genetic testing confirmed this is mevalonate kinase deficiency rather than another periodic fever syndrome?
- How long and how often should we expect these fever episodes to last?
- What can we give during a flare to manage the fever, mouth sores, and joint pain?
- If flares stay frequent or severe, would a medication that blocks inflammation, like anakinra or canakinumab, be appropriate?
- Is there any risk of long-term organ damage, and how will we monitor for it as my child grows?
Getting Care
A pediatric rheumatologist experienced in periodic fever syndromes should confirm the diagnosis and guide treatment, since the condition needs specialized genetic and laboratory testing to distinguish it from other causes of recurrent fever. Seek care sooner if fever episodes become more frequent, more severe, or are accompanied by new symptoms that haven't occurred before.
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