Erdheim-Chester Disease (ECD) - FAQ


Langerhans Cell Histiocytosis, LCH for short, histiocytes called Langerhans cells, which are normally found in the skin, may spread to many organs and damage them, so that the symptoms vary depending on which organs are affected, but skin rashes, destruction of bone, breathing problems and damage to the brain are common.

LCH occurs in children, often during infancy but also in adults. It is usually a chronic disease and may cause severe disabilities due to brain damage. The diagnosis is made by microscopic examination of a tissue specimen obtained by biopsy. The prognosis depends very much on the extent of disease and organs affected, which can be assessed by imaging studies. LCH is thought to be caused by alterations in the DNA of Langerhans cells.

The second group is called a macrophage cell disorder, and includes primarily Haemophagocytic Lymphohistiocytosis (HLH) and Rosai-Dorfman Disease (RD).

The questions below specifically relate to Erdheim-Chester Disease (ECD).
Erdheim-Chester Disease

1. What causes Erdheim-Chester Disease (ECD)?
Erdheim Chester disease involves the excessive production of histiocytes, which are a type of white blood cell. What causes over-production of these cells is not yet known, although some cases have the BRAF V600E mutation also found in LCH and cancers such as melanoma and thyroid cancer.

2. Is there a cure for Erdheim-Chester Disease?
The best treatments available today may control and sometimes shrink the tumors associated with the disease. However, we usually don’t use the term “cure” for this disease, since no specific amount of time without active disease has been established to determine that a patient is cured.

3. What are the different therapies/treatments commonly used to treat Erdheim-Chester Disease?
To date, there is no universally accepted treatment for Erdheim Chester. Various treatments, however, have been used with variable success. These include steroids, interferon, radiation, surgery, and chemotherapy such as vinblastine, vincristine, Cytoxan (cyclophosphamide), Adriamycin (doxorubicin), and 2CdA (cladribine). Other drugs have also been including Vemurafenib, which targets the BRAF V600E mutation.

4. Can an infant be tested at birth for ECD?
No, a biopsy of the affected tissue, rather than a blood test, is required for diagnosis and unless the patient has a lesion this could not be performed.

Please be advised that all the information you read here is not a replacement for the advice you will get from your consultant and their team.

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