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Genetic and Rare Diseases Information Center (GARD)

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Hyper-IgD syndrome


Other Names for this Disease

  • Hyper IgD syndrome
  • Hyperimmunoglobulinemia D and periodic fever syndrome
  • Periodic fever Dutch type
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Can you please provide me with general information about hyper IgD syndrome?

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What is hyper IgD syndrome?

Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case.[1]  Hyper IgD syndrome is caused by mutations in the gene encoding mevalonate kinase (MVK).[2][3] It is inherited in an autosomal recessive manner.[1][3] 
Last updated: 3/5/2013

What are the signs and symptoms of hyper IgD syndrome?

Hyper IgD syndrome is characterized by periodic high fevers accompanied by lymphadenopathy, abdominal pain, diarrhea, headache, joint pain, hepatomegaly and/or splenomegaly, and skin lesions.[2][4] Most episodes last several days and occur periodically throughout life.[1] The frequency of episodes and their severity vary greatly from case to case.[1][2] The first attack usually takes place during infancy.[4] Patients may have no symptoms between attacks. However, in some patients, the attacks may be so frequent that the symptoms persist.[2]
Last updated: 3/5/2013

What causes hyper IgD syndrome?

Hyper IgD syndrome is caused by mutations in the gene encoding the enzyme mevalonate kinase (MVK). The mutations lead to a decrease in the enzymatic activity of the gene.[2][4] The gene is located at chromosome 12q24.[4]
Last updated: 3/5/2013

Is hyper IgD syndrome inherited?

Hyper IgD syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1][4] About one half of patients have a positive family history.[2]
Last updated: 3/5/2013

How might hyper IgD syndrome be treated?

There is no cure for hyper IgD syndrome and currently no established treatment.  Management is focused on supportive care. Some patients have responded to high-dose prednisone. Simvastatin, Anakinria (an IL-1 receptor antagonist) and TNF inhibitors have recently shown some success in controlling inflammatory attacks.[2][4]  

Consultations with the following specialists may be helpful: dermatologist, rheumatologist, and infectious disease specialist (to evaluate periodic fever).[2] 

Last updated: 3/5/2013

What is the prognosis for individuals with hyper IgD syndrome?

Patients with hyper IgD syndrome have a good prognosis because amyloidosis has not been reported in any patient with this syndrome. No apparent neurologic or morphologic abnormalities occur, and, between fever attacks, patients are generally free of symptoms. Attacks do continue throughout the lifetime, although there may be a slight decrease following adolescence.[2]
Last updated: 3/5/2013

References
Other Names for this Disease
  • Hyper IgD syndrome
  • Hyperimmunoglobulinemia D and periodic fever syndrome
  • Periodic fever Dutch type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.