Background: Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is a disorder diagnosed with low frequency, that produces a very prolonged and recurrent fever with other symptoms and analytical markers of inflammation. Its origin seems to be hereditary with a recessive autosomic pattern, but its pathogenic mechanisms are unclear. The aim of this study is to analyse the clinical characteristics and serum levels of immunoglobulins a Spanish family with HIDS.
Methods: We describe a young woman diagnosed with HIDS and investigate the other memberships of her family (parents and 5 brothers) by clinical interview, physical examination, hematological and biochemical analyses and measurements of IgG, IgA, IgM, IgE, IgD and the kappa/lambda ratio of light chains. Moreover, we also determine the IgD in a control group of 35 healthy blood donors.
Results: One male brother of the index case also showed a clinical picture of HIDS. The serum IgD levels were increased (above 100 U/ml) in both and in other two sisters without symptoms and were normal in the rest of the family. With only one exception, all individuals of the control group showed a normal IgD level and this was not associated with sex or age. The other immunoglobulins were normal in the family. In spite of the different treatments tested in the index case, only glucocorticoids aborted her fever attacks.
Conclusions: In HIDS the clinical picture and the high IgD levels are both transmitted with a recessive autosomic pattern, but these are not necessarily associated in the same memberships of the family. Its diagnosis is difficult and there is not effective and long-term safe treatment.