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Commonly abbreviated as HIDS, this syndrome was originally described in 1984 by the internist (now Professor) Jos van der Meer at Leiden University Medical Centre. No more than 300 cases have been described worldwide.
Features
HIDS is one of a number of periodic fever syndromes. It is characterised by attacks of fever, arthalgia, skin lesions, and diarrhea. Laboratory features include an acute phase response (elevated CRP and ESR) and markedly elevated IgD (and often IgA).
Therapy
The recurring fevers are highly unpleasant for patients, but so far only the immunosuppressant etanercept (Enbrel®) has been shown to be effective. Statin drugs might decrease the level of mevalonate and are presently being investigated.
Cause
Virtually all patients with the syndrome have mutations in the gene for mevalonate kinase, which is part of the HMG-CoA reductase pathway, an important cellular metabolic pathway. Indeed, similar fever attacks (but normal IgD) have been described in patients with mevalonic aciduria - an inborn error of metabolism now seen as a severe form of HIDS.
Pathophysiology
Is it not known how mevalonate kinase mutations cause the febrile episodes, although it is presumed that other products of the cholesterol biosynthesis pathyway, the prenylation chains (geranylgeraniol and farnesol) might play a role.
References
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