Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience

Eur J Pediatr. 2015 Jun;174(6):707-14. doi: 10.1007/s00431-015-2505-9. Epub 2015 Feb 27.

Abstract

Hyperimmunoglobulinemia D syndrome (HIDS) is an autoinflammatory disorder that is caused by mevalonate kinase deficiency (MKD). Recent advances in the pathogenesis of MKD, including the proposed mechanisms of inflammasome activation, provide the basis for the development of new treatment modalities. So far, feedback on the treatment of HIDS with biological medicines has come from case reports with limited numbers of patients. In this review, we summarize the data that is currently available on the treatment of HIDS in children, with the emphasis on new therapies, and present three Finnish pediatric cases treated with anakinra. Case reports have been published on 33 pediatric HIDS patients who have been treated with biological medicines, and in some cases, they were treated with more than one drug. Of these patients, 21 were treated with anakinra and 16 with etanercept, resulting in complete or partial responses in 90 and 50% of cases, respectively. A further five patients were treated with canakinumab, with complete or partial responses.

Conclusion: The accumulating evidence on the efficacy and safety of biological drugs in pediatric HIDS suggests that the anti-interleukin-1 agent anakinra is the drug of choice for HIDS in children.

What is known: • Various biologic drugs have been tried for the treatment of HIDS. What is New: • Based on the 90% response rate, anakinra seems to be the drug of choice for HIDS in children.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Antibodies, Monoclonal / therapeutic use
  • Antibodies, Monoclonal, Humanized
  • Biological Products / therapeutic use*
  • Child
  • Child, Preschool
  • Etanercept / therapeutic use
  • Humans
  • Infant
  • Interleukin 1 Receptor Antagonist Protein / therapeutic use
  • Mevalonate Kinase Deficiency / complications
  • Mevalonate Kinase Deficiency / drug therapy*
  • Syndrome

Substances

  • Antibodies, Monoclonal
  • Antibodies, Monoclonal, Humanized
  • Biological Products
  • Interleukin 1 Receptor Antagonist Protein
  • canakinumab
  • Etanercept