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On-demand anakinra treatment is effective in mevalonate kinase deficiency
  1. E J Bodar1,
  2. L M Kuijk2,
  3. J P H Drenth3,
  4. J W M van der Meer1,
  5. A Simon1,
  6. J Frenkel2
  1. 1Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  2. 2Department of General Paediatrics, Paediatric Division, University Medical Centre Utrecht, Utrecht, The Netherlands.
  3. 3Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  1. Correspondence to Simon Anna, Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands; a.simon{at}


Background Mevalonate kinase deficiency (MKD) is a hereditary autoinflammatory syndrome marked by recurrent attacks of fever and inflammation. Severe enzyme deficiency results in mevalonic aciduria (MA) and milder deficiency in hyperimmunoglobulin D syndrome (HIDS). Treatment remains a challenge.

Objective To observe the effect of the recombinant interleukin-1 receptor antagonist anakinra in patients with MKD.

Methods A prospective observational study was undertaken. Two patients with MA started continuous treatment with anakinra (1–2 mg/kg/day) and nine patients with HIDS chose between continuous treatment and on-demand treatment (starting at first symptoms of attack, 100 mg/day or 1 mg/kg/day for 5–7 days).

Results Anakinra induced partial remission in one patient with MA but there was no response in the other patient with MA. In one patient with HIDS continuous treatment induced complete remission for 7 months but was stopped because of side effects. Eight patients with HIDS preferred on-demand treatment from the start. This induced a clinical response (≥50% reduction in duration) in 8 of 12 treated attacks without a change in attack frequency. Anakinra prevented fever attacks due to vaccination without inhibiting antibody induction. No major side effects were seen.

Conclusions On-demand treatment with anakinra in HIDS decreases the duration and severity of fever attacks. Because of the burden of daily injections and relatively long asymptomatic intervals of HIDS, all patients with HIDS preferred on-demand treatment.

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  • Funding AS has been supported by a ZonMw VENI grant, and is now recipient of a ZonMW VIDI grant. LK has been supported by the Wilhelmina Children's Hospital research fund. EJB has been supported by a ZonMW program grant.

  • Competing interests JWMvdM, AS and JF have received consulting fees from Novartis.

  • Patient consent Not obtained.

  • Ethics approval This study was conducted with the approval of the Radboud University Nijmegen Medical Centre and University Medical Centre Utrecht in The Netherlands.

  • Provenance and peer review Not commissioned; externally peer reviewed.