Hyper-igd syndrome

[Jason Yan]

Hyper-IgD syndrome is a rare autosomal recessive disorder in which recurring attacks of chills and fever begin during the first year of life. Episodes usually last 4 to 6 days and may be triggered by physiologic stress, such as vaccination or minor trauma. Diagnosis is mainly clinical but includes serum IgD level and possibly gene testing. Attacks can be prevented with anakinra or canakinumab . Symptoms can be treated with nonsteroidal anti-inflammatory drugs, corticosteroids, and anakinra .
Hyper-IgD syndrome clusters in children of Dutch, French, and other Northern European ancestry and is caused by

Mutations in the gene coding mevalonate kinase, an enzyme important for cholesterol synthesis

Reduction in the synthesis of anti-inflammatory isoprenylated proteins may account for the clinical syndrome.
In addition to chills and fever, symptoms of hyper-IgD syndrome may include abdominal pain, vomiting or diarrhea, headache, and arthralgias. Signs of hyper-IgD syndrome include cervical lymphadenopathy, splenomegaly, arthritis, skin lesions (maculopapular rash, petechiae, or purpura), and orogenital aphthous ulcers (1).