How is Erdheim-Chester Disease Treated?

To date, there is no “cure” for ECD, although more effective treatments are being discovered. The best treatments available today control and sometimes shrink the growths associated with the disease. The limited evidence available suggests that if some treatments are stopped, the disease will progress again, usually quickly. Consequently, some successful treatments may be continued indefinitely.

Because of the rarity of this disease, clinical trials have not been historically conducted. However, this is changing. Today there are a number of studies and clinical trials open to ECD patients. When ECD patients enroll in a clinical trial, they can have access to some of the newest and best treatments available to ECD patients. All patients are encouraged to talk with their medical team about whether a clinical trial would be appropriate for their situation. Clinical trials not only allow a patient access to the newest treatment options, they also pave the way for treatments to be scientifically proven as effective in the treatment of ECD. This can lead to the approval of ECD treatments which would help all ECD patients gain access to the treatment.

For these reasons, there is not a treatment plan that is accepted by the medical community as the “best available.” However, there are a number of doctors who have documented their findings with a particular treatment plan. Many of these treatments are based on anecdotal experience, but over time are showing they do help patients. They include:

  • Immunotherapy (Interferon)
    Interferon-alpha, normally considered the “first-line” of treatment, with a number of papers available in www.pubmed.gov reporting on the effectiveness of this treatment for patients who can tolerate it. Interferon is a protein the body creates when it is trying to fight off a foreign agent such as a virus. If a doctor believes this is the best course of action for a patient (s)he will prescribe the medicine to the patient and continue monitoring the patient for any adverse side effects. With interferon treatment a patient is given the medicine by injection (shot). There are two forms of interferon, one requiring an injection 3 times a week, and another pegylated form requiring injections only once a week. This treatment is normally given for extended periods of time. It is a treatment that can be given in the home (much like an insulin shot); the patient usually does not need to go into a doctor’s office or hospital to obtain the injection. The patient may experience some side effects such as fatigue (flu-like feelings). However, for some patients these side effects diminish with time. (See Treatment of Erdheim-Chester disease with long-term high-dose interferon-α) For more papers describing interferon treatment for ECD, see the Technical Papers webpage. It is recently reported that a typical dosage for treating of ECD with interferon-alpha is an injection under the skin of 3mIU, three times per week. For patients with central nervous system (CNS) or cardiac involvement, an injection under the skin of a high dosage of 6-9 mIU, three times per week may be considered.  A reported typical dosage for treating of ECD with pegylated interferon-alpha is an injection under the skin of 135ug once a week.
  • BRAF-inhibitors (vemurafenib, dabrafenib)
    Recent journal articles have been published about a high frequency of BRAF(V600E) mutations in ECD patients. These findings have led some treating physicians to begin using BRAF-inhibitors to treat ECD should the patient test positive for this mutation. (Emerging data suggests that ECD patients should be tested for the BRAF-mutation using ultra sensitive methods as there may be a high rate of false negative results occurring.) Vemurafenib is a BRAF-inhibitor shown to improve outcomes of patients with metastatic melanoma and hairy cell leukemia. Initial reports in the use of vemurafenib for ECD patients look very promising, with patients responding very favorably. The favorable results of using vemurafenib for ECD treatment have been published in the New England Journal of Medicine.  A vemurafenib clinical trial is now open in the US and Europe and is accepting ECD patients. Studies of this nature are needed to determine the long-term efficacy of vemurafenib. (See http://en.wikipedia.org/wiki/Vemurafenib)  Recent reports indicate a typical dose of vemurafenib for treatment of ECD is 480 – 960 mg daily. An additional BRAF-inhibitor trial, using the combination of dabrafenib with the MEK inhibitor, Trametinib, is also now open for the treatment of ECD patients at the NIH.  Finally, recent research is suggesting that those patients who test negative for the BRAF mutation may have other mutations that would allow focused treatment.  All ECD patients and their medical teams are urged to stay up-to-date with the latest research in this area.
  • MEK-inhibitors (trametinib, cobimetinib, etc.)
    Some of the newest research in the treatment of ECD includes the use of MEK inhibitors.  These treatments are being studied at some of the ECD Referral Care Centers.  Patients and/or their medical teams are encouraged to contact the lead physicians at an ECD Referral Care Center for more information about this emerging treatment.
  • Anakinra (trade name Kineret)
    Kineret is approved for the reduction in signs and symptoms and slowing the progression of structural damage in moderately to severely active rheumatoid arthritis. Kineret can lower the ability of the immune system to fight infections. It has been reported that Kineret has shown good results for some patients with mild forms of ECD, without central nervous system (CNS) or cardiovascular involvement. A paper was published in August 2010 with the results of two patients who were treated with anakinra with positive results. Since that time additional case studies have been published showing positive results. (see http://www.ncbi.nlm.nih.gov/pubmed/20724540) Yet other reports have shown poor efficacy of anakinra in complicated cases that include CNS or cardiovascular involvement. For more information on anakinra, seehttp://en.wikipedia.org/wiki/Anakinra. Reported typical dosage of anakinra in the treatment of ECD is an injection of 100 mg daily.
  • Imatinib (trade name Gleevec)
    Imatinib is the first approved drug to directly turn off the signal of a protein known to cause certain cancers. Little has been published regarding this treatment for ECD. However, one article is available that describes the use of this treatment with 6 patients having multi-system involvement, who were not responding well to other treatments. Two were stabilized and 4 continued to worsen on this treatment. Most experienced stabilized cardiovascular involvement. (See http://bloodjournal.hematologylibrary.org/cgi/content/full/111/11/5413-a) Another article was published in November 2010 which provides data on 3 patients with histiocytic diseases given Gleevec, one of which was an ECD patient. The conclusion of this article is, “Imatinib may be an effective treatment option for some patients with these diseases.” (seehttp://jco.ascopubs.org/content/28/31/e633.full) Currently there are a handful of ECD Global Alliance patients who are on this treatment. For more information on Imatinib, see http://en.wikipedia.org/wiki/Imatinib. Typical reported dosage of imatinib for the treatment of ECD is 400 mg by mouth daily.
  • Cladribine (also called 2-CdA)
    Sometimes a doctor will make the decision that chemotherapy is the best way to treat ECD in a particular patient. Chemotherapy means that a chemical is used to kill certain cells in the body in an attempt to fight off a disease. The specific chemotherapy treatment that has showed favorable results for some ECD patients is cladribine (or 2-CDA). This drug is usually used for a specific period of time. Cladribine has been shown to negatively impact ECD patients’ immune systems and therefore most specialists refrain from administering more than 2 to 4 courses of this treatment. All chemotherapy treatments must be given with close monitoring by a doctor. For more information about chemotherapy, see http://en.wikipedia.org/wiki/Chemotherapy.
  • Sirolimus (trade name Rapamune)
    A study is being conducted relative to the use of sirolimus in the treatment of ECD. Emerging data shows that this treatment has induced stabilization and is somewhat well tolerated in some patients with multisystemic ECD, especially those presenting with kidney involvement. The drug is not recommended for those with effusions. For more information see “Pilot Study of Sirolimus with Prednisone as Treatment for ECD” under the “ECD Studies” menu selection. Immunosuppressants reduce efficacy of the immune system requiring patients on this form of treatment to be extra careful about reducing risk of infections. For more information about immunosuppressant therapy, see http://en.wikipedia.org/wiki/Immunosuppression.
  • Tocilizumab (trade name Actemra)
    Actemra is approved for the treatment of moderately to severely active rheumatoid arthritis (RA). It is classified as an interleukin-6 (IL-6) receptor Inhibitor. Emerging data on the use of Actemra as an ECD treatment shows it may decrease c-reactive protein (CRP) levels as well as decrease fluorodeoxyglucose (FDG) intake. Tocilizumab may be effective on some localizations of ECD, but seems to have poor effects on central nervous system (CNS) localization. Although there are no published papers on this treatment, patients have experienced some bone pain relief while on this treatment. A clinical trial for the use of tocilizumab in the treatment of ECD is open in Italy. For more information on actemra, see http://www.fda.gov/downloads/Drugs/DrugSafety/UCM197463.pdf.
  • Methotrexate
    Methotrexate is usually used to treat cancer or autoimmune diseases. Methotrexate has been used to treat some ECD patients. In some cases this drug has been used alone and in at least one case it was used with Infliximab and Micophenolic Acid. Some patients have reported receiving high doses of Methotrexate when rapid progression of ECD has been identified, whereas other patients have received lower maintenance doses of Methotrexate. For more information, see http://en.wikipedia.org/wiki/Methotrexate.
  • Surgical debulking
    If a mass has formed as the result of ECD, a doctor may recommend removing as much of the mass as practical using surgical techniques. This is done with the intent to allow other treatments to work more effectively and/or to improve the quality of life where a reduction in mass size may help to reduce symptoms. The decision regarding surgical debulking is done by a doctor on a case-by-case basis.
  • Systemic corticosteroids
    Corticosteroids are hormones that are produced in the body as a response to stress, foreign bodies, inflammation, etc. An often-used corticosteroid is prednisone, usually used mainly for control of disease flare-ups. If a doctor believes corticosteroids are a good course of action for a patient, (s)he will prescribe the medicine to the patient and continue monitoring the patient for any adverse side effects. Corticosteroids are often taken orally (by mouth) daily. The patient may experience some side effects that should be closely monitored by a doctor. For more information about corticosteroids, see http://en.wikipedia.org/wiki/Corticosteroid.
  • Radiation treatment
    Sometimes a doctor may try to treat a mass using radiation techniques, typically to palliate bone pain associated with ECD lesions. Radiation treatment is done in a hospital or clinical setting. For more information about radiation treatments, seehttp://en.wikipedia.org/wiki/Radiation_therapy.

The efficacy of treatments is difficult to evaluate and the disease can be relentless in its course. In general, the clinical course of patients with this disease is variable. To find more information regarding these treatment options, the “Technical Papers” selection on this website provides journal articles regarding ECD, many of which provide anecdotal information about treatment options and results.

It is important to know there are patients who are living high-quality lives with ECD for decades. Because ECD is so rare and publications so few, this information may not be readily available to patients or physicians.

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Last updated: June 1, 2017

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