A patient with hyper-IgD syndrome responding to simvastatin treatment

Abstract

The hyper-IgD syndrome (HIDS) is an autosomal recessively inherited auto-inflammatory syndrome, caused by deficient enzyme activity of mevalonate kinase (MVK), an enzyme in the isoprenoid pathway. Patients present with a long history of recurrent fever attacks, accompanied by abdominal pain, skin lesions, lymphadenopathy and arthralgia. The attacks last about 3–7 days followed by a spontaneous remission, only to recur after a symptom-free period of 4–6 weeks. Factors known to precipitate an attack are infection, trauma, vaccination, and psychological stress. Laboratory examination at the time of attacks reveals a vigorous acute phase response with leucocytosis, raised sedimentation rate, high serum concentrations of C-reactive protein and increased mevalonic acid urinary levels. Almost all patients have an elevated polyclonal immunoglobulin D. Until now, treatment of HIDS patients is largely supportive and very difficult. Various anti-inflammatory drugs have failed to suppress the fever attacks [ [1] Haas D. Hoffmann G. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006 Apr; : 1-13 Google Scholar ].