Hyperimmunoglobulinemia D Syndrome (HIDS)

A periodic fever syndrome characterized by a long history of episodic fever attacks. Attacks occur every 4-8 weeks and last 3-7 days. Clinical signs include lymphadenopathy, abdominal pain and diarrhea, headache, hepato/splenomegaly, arthralgia/arthritis, and skin lesions. Laboratory findings reveal acute phase response with high C-reactive protein levels, leukocytosis, increased TNFa, IL-6 and IFN?. Also increased levels of anti-inflammatory substances IL-1ra, sTNFR p55 and sTNRF p75. Most typical is an elevation of IgD with many showing an elevation of IgA as well. Treatment involves use of anti-inflammatory drugs including colchicine. It is an autosomal recessive hereditary disease with mevalonate kinase the HIDS gene. Mevalonate kinase is an enzyme present in the peroxisomes of every mammalian cell. Mutations occur in the MVK encoding gene.