title: On-demand anakinra treatment is effective in mevalonate kinase deficiency.
abstract: 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.
authors.affiliation: Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, The Netherlands.
authors.forename: E J
authors.initials: EJ
authors.lastname: Bodar
authors.forename: L M
authors.initials: LM
authors.lastname: Kuijk
authors.forename: J P H
authors.initials: JP
authors.lastname: Drenth
authors.forename: J W M
authors.initials: JW
authors.lastname: van der Meer
authors.forename: A
authors.initials: A
authors.lastname: Simon
authors.forename: J
authors.initials: J
authors.lastname: Frenkel
mesh_terms: D000293:Adolescent; D000328:Adult; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000008:administration & dosage* / Q000627:therapeutic use; D002097:C-Reactive Protein / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004334:Drug Administration Schedule; D005260:Female; D005334:Fever / Q000188:drug therapy / Q000209:etiology; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000008:administration & dosage* / Q000627:therapeutic use; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000097:blood / Q000150:complications / Q000188:drug therapy*; D011446:Prospective Studies; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; D053590:Interleukin 1 Receptor Antagonist Protein; D002097:C-Reactive Protein