Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease

Blood. 2010 Nov 18;116(20):4070-6. doi: 10.1182/blood-2010-04-279240. Epub 2010 Aug 19.

Abstract

Erdheim-Chester disease (ECD) pathophysiology remains largely unknown. Its treatment is not codified and usually disappointing. Interferon (IFN)-α therapy lacks efficacy for some life-threatening manifestations and has a poor tolerance profile. Because interleukin (IL)-1Ra synthesis is naturally induced after stimulation by IFN-α, we hypothesized that recombinant IL-1Ra (anakinra) might have some efficacy in ECD. We treated 2 patients who had poor tolerance or contraindication to IFN-α with anakinra as a rescue therapy and measured their serum C-reactive protein, IL-1β, IL-6, and monocytic membranous IL-1α (mIL-1α) levels before, under, and after therapy. Another untreated ECD patient and 5 healthy subjects were enrolled as controls. After treatment, fever and bone pains rapidly disappeared in both patients, as well as eyelid involvement in one patient. In addition, retroperitoneal fibrosis completely or partially regressed, and C-reactive protein, IL-6, and mIL-1α levels decreased to within the normal and control range. Beside injection-site reactions, no adverse event was reported. Therefore, our results support a central role of the IL-1 network, which seemed to be overstimulated in ECD. Its specific blockade using anakinra thereby opens new pathophysiology and therapeutic perspectives in ECD.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • C-Reactive Protein / metabolism
  • Drug Tolerance
  • Erdheim-Chester Disease / diagnostic imaging
  • Erdheim-Chester Disease / drug therapy
  • Erdheim-Chester Disease / metabolism*
  • Female
  • Humans
  • Interleukin 1 Receptor Antagonist Protein / pharmacology
  • Interleukin 1 Receptor Antagonist Protein / therapeutic use
  • Interleukin-1alpha / metabolism*
  • Male
  • Middle Aged
  • Monocytes / drug effects
  • Monocytes / metabolism
  • Radiography
  • Treatment Outcome

Substances

  • Interleukin 1 Receptor Antagonist Protein
  • Interleukin-1alpha
  • C-Reactive Protein