Strategies and treatment alternatives in the management of Erdheim-Chester disease

Roei David Mazor, Mirra Manevich-Mazor, Yehuda Shoenfeld

Research output: Contribution to journalReview articlepeer-review


Introduction: The treatment of Erdheim-Chester disease (ECD) remains a challenging task. Current opinion corroborates interferon-α as the first-line treatment. Several second-line treatments exist for patients who advance on or who do not tolerate interferon-α. Among them are vemurafenib, anakinra, infliximab and cladribine. Areas covered: A systematic search of PubMed was employed to identify all the articles relating to the treatment of ECD. The quintessential facts are as follows: Interferon-α increases survival among ECD patients at dosages of as low as 3 × 10 6 IU × 3/week. Nevertheless, the more resilient cardiovascular and central nervous system (CNS) disease foci necessitate dosage regimens of as high as 9 × 106 IU × 3/week. Anakinra, administered at dosages of 1-2 mg/kg/day, should be reserved for patients with mild disease. Infliximab, administered at a dosage of 5 mg/kg/6 weeks induced regression of ECD-related cardiovascular lesions. Vemurafenib, administered at a dosage of 960 mg/day, induced remarkable improvement in the symptoms, CRP levels and PET findings of patients harboring the V600E BRAF mutation. Cladribine may be effective administered at dosages of 0.07-0.14 mg/kg/day for five consecutive days. However, it should be reserved for patients with moderate-to-severe disease who failed on or who are not candidates for other second-line treatments. Expert opinion: Recent advancements in the recognition of biological targets imbued the therapeutic repertoire of ECD with novel personally tailored treatments. As the zealous hunt for future remedies persists, one must always remember that the success of an ongoing treatment is congruent with an assured, well-informed patient.

Original languageEnglish
Pages (from-to)891-899
Number of pages9
JournalExpert Opinion on Orphan Drugs
Issue number11
StatePublished - 2013
Externally publishedYes


  • Anakinra
  • Cladribine
  • Erdheim-Chester
  • Infliximab
  • Interferon-α
  • Vemurafenib


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