Amyloid A amyloidosis secondary to hyper IgD syndrome and response to IL-1 blockage therapy

A. F. Kallianidis*, A. Ray, D. Goudkade, J. W. de Fijter

*Corresponding author for this work

Research output: Contribution to journalEditorialAcademicpeer-review

10 Citations (Web of Science)


A 62-year-old woman with a history of genetically confirmed hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was admitted because of chronic diarrhoea. During admission she developed a rapidly progressive nephrotic syndrome. Reactive amyloid A (AA) amyloidosis was confirmed after colonic and renal biopsy which showed deposition of amyloid. After initial treatment with high-dosed corticosteroids, therapy was switched to anakinra, an IL-1 receptor antagonist, but her symptoms persisted. After cessation of anakinra, a marked exacerbation of the intestinal symptoms was noted. Nine months after the initial diagnosis of reactive amyloidosis without any amelioration of the symptoms and a decreasing quality of life, our patient declined further treatment and died soon after. This case demonstrates that AA amyloidosis does occur in patients with HIDS and can present with intestinal symptoms and proteinuria. Once amyloidosis is diagnosed the goal of treatment is to prevent further complications. In this case report we give an overview of previous cases with amyloidosis complicating HIDS with the treatments received and propose a step-up treatment plan for future cases.
Original languageEnglish
Pages (from-to)43-46
JournalNetherlands Journal of Medicine
Issue number1
Publication statusPublished - Jan 2016


  • AA amyloidosis
  • hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)
  • mevalonate kinase deficiency (MKD)
  • anakinra
  • IL-1 blockage

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