Periodieke koorts door hyper-IgD-syndroom

I.M.P.M.J. Wauters, R.K. Linskens en C.D.A. Stehouwer

Periodic fever due to hyper-IgD syndrome.

- In a 45-year-old man who from early childhood had been suffering of periodic fever, which did not respond to any therapy attempted, the ultimate diagnosis was hyperimmunoglobulinaemia D syndrome (HIDS). HIDS attacks typically occur every 4-6 weeks and last 3-7 days. The most frequent symptoms are fever, diarrhoea, arthralgias, cold shivers, abdominal pain, vomiting and headache. Physical examination often reveals lymphadenopathy, skin lesions, arthritides, splenomegaly and serositis. Laboratory investigation includes an acute-phase response with granulocytosis and enhanced erythrocyte sedimentation rate. The serum concentration of IgD is increased as is the concentration of IgA. There is no causal therapy. A causative gene mutation was recently identified.