Erdheim-Chester disease: Treatment options after diagnosis

So there are different ways to treat ECD.
The first thing to consider is what are the organs involved and also are there
symptoms. There are patients with ECD who have imaging findings, for
example, involvement of the long bones but they are not symptomatic and so for
patients without symptoms and without critical organ involvement, for example
the heart, lungs, or the brain, observation is a valid management for these patients
at least in the beginning. So patients can be observed for months and sometimes
even years without therapy. However, when there is an involvement of critical
organs or the patient is symptomatic then certainly treatment has to be
considered or started. The treatment of Erdheim-Chester disease is
continuing to evolve. Again there are many ways of treatment. Currently, it
is important to know what are the molecular findings or what we call the
mutations within the biopsy because the presence of certain mutations may help
us guide on how to treat the patient. Before we knew about these mutations in
Erdheim-Chester disease, we had been using treatments that are borrowed or used in
other blood disorders, specifically chemotherapy drugs what we call biologic
therapy and they have to some degree been effective in controlling the signs
and symptoms of Erdheim-Chester disease We have yet no treatment that can
cure Erdheim-Chester disease, however patients certainly with the condition
can have a long-term life expectancy. Some
of the treatments that we have used in the past include chemotherapy, steroids,
biologic agents such as those used in rheumatology. But now with the knowledge
that most patients have certain mutations the most common mutation found
in Erdheim-Chester disease is a a mutation called BRAF V600E. So it is very
important to know if you have this mutation. Assuming that this mutation is
present and assuming that there is a need to treat, then currently there is an
an FDA approved drug for ECD in the form of the vemurafenib. This is a drug that targets the BRAF mutation but only works in those
patients with this BRAF mutation which is about 50% of the patients. The
other 50% do not BRAF mutation but may have other mutations which may
be targeted by other agents. The exact treatment option of course depends on
your symptoms, you know how your organ function is because several drugs go
through different mechanisms in the body. So you have to certainly discuss pros
and cons of every drugs. And then cost can be an issue, especially with the
newer drugs. All of that being said, you know, as we discussed previously, the
hormonal deficiencies – the diabetes insipidus or low testosterone or so
forth – we don’t have enough evidence right now that treating Erdheim-Chester disease with any of the drugs that were mentioned takes care of the hormonal deficiencies
so as of now if you have those you need to be seen by
endocrinology and be treated for those hormone
deficiencies. If you have pain or fatigue you may need to see physical therapy or
pain medicine as indicated to keep your energy because fatigue can be another
nonspecific sign or symptom that it can tackle alongside. But certainly be
engaged in your own care provider