Hyperimmunoglobulinemia D with periodic fever syndrome

Patients have recurrent febrile attacks that start before the end first of life. The attack is accompanied by chills, sharp rise in body temperature, cervical lymphadenopathy and abdominal pain with vomiting, diarrhea and last 4-6 days. Common symptoms include hepatosplenomegaly, headache, arthralgias, athritis of large joints, erythematous macules and papules, petechia and purpura, and an elevated serum IgD level (> 100 U/ml). After an attack, patients are free of symptoms, skin and joint symptoms dissapear slowly.

Therapeutic options

  • Colchicine has no preventive effect against febrile episodes. Simvastatin treatment and TNF (tumour necrosis factors) inhibitors have been recently tested with some success, for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome.
  • Mediterranean fever, familial, eMedicine

Research programs, clinical trials