Frequently Asked Questions


Erdheim-Chester Disease

The questions below are regarding Erdheim-Chester Disease specifically. Please click on a question to view the answer.

  1. What causes Erdheim-Chester Disease (ECD)?
  2. Is there a cure for Erdheim-Chester Disease?
  3. What are the different therapies/treatments commonly used to treat Erdheim-Chester Disease?
  4. Can an infant be tested at birth for ECD?

Possible Side Effects of Treatment

  1. What are the possible side effects of interferon?
  2. What are the possible side effects of 2-CdA (cladribine/leustatin)?


Histiocytic Disorders and Orphan Diseases

The questions below are about Histiocytic Disorders and Orphan Disease in general. Please click on a question to view the answer.

  1. What are histiocytic disorders, and how are they classified?
  2. Why are all of these diseases with different names considered to be related to each other?
  3. Where can I find reliable information about histiocytosis?
  4. How can I explain histiocytosis to family and friends?
  5. What is an orphan disease?
  6. How many orphan diseases are there?
  7. Where can I learn more about rare diseases in general?

 

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 these cells to over-produce is not yet known.

  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 different levels of 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 used.

  4. Can an infant be tested at birth for ECD?
    A biopsy of the affected tissue, rather than a blood test, is required for diagnosis and would therefore not be appropriate as a routine test unless this disease is suspected.

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Possible Side Effects of Treatment

  1. What are the possible side effects of interferon?
    More common signs/symptoms include:
    • Flu-like symptoms (Fever, chills, headache, dizziness, fatigue, muscle aches, nausea, vomiting, diarrhea)
    • Irritability/depressionDecreased appetite
    • Irregular heart rate
    • Decreased blood counts (red cells, white cells, and clotting cells)
    • Liver abnormalities
  2. What are the possible side effects of 2-CdA (cladribine/leustatin)?
    More common signs/symptoms include:
    • Flu-like symptoms (Fever, chills, headache, fatigue, nausea/vomiting)
    • Decreased appetite
    • Constipation
    • Low blood counts (red cells, white cells, and clotting cells)
    • Skin rash/redness/itching

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Histiocytic Disorders and Orphan Diseases

  1. What are histiocytic disorders, and how are they classified?
    Histiocytic disorders are a diverse group of diseases caused by over-production of white blood cells known as histiocytes, which can lead to organ damage and tumor formation. They include a wide variety of conditions that can affect both children and adults.

    The disorders are classified into three groups based on the types of histiocyte cells involved.
    • The first group is called a dendritic cell disorder, and the most common disease in this group is Langerhans cell histiocytosis. Also included in this group are more rare diseases, juvenile xanthogranuloma (JXG) and Erdheim Chester.
    • The second group is called a macrophage cell disorder, and includes primarily hemophagocytic lymphohistiocytosis (HLH) and Rosai-Dorfman.
    • The third group is called malignant histiocytosis and includes certain kinds of leukemia and tumors.
  2. Why are all of these diseases with different names considered to be related to each other?
    All of the diseases are caused by the over-production of white blood cells called histiocytes. Their different classifications depend on the type of histiocyte involved.

  3. Where can I find reliable information about histiocytosis?
    The Histiocytosis Association’s online community provides a number of informational documents and articles, as well as links to medical articles about the histiocytic disorders. While the Internet does provide a significant volume of information about histiocytic disorders, some of this information is not accurate. It is important to look for documents that are current, are free of grammatical and spelling errors, appear to be objective, are free of advertisements, and clearly state their sources.

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  4. How can I explain histiocytosis to family and friends?
    Histiocytosis is a rare disease that is caused by the over-production of a type of white cell that can lead to organ damage and the formation of tumors. The Histiocytosis Association’s Disease Fact Sheets are also a great way to help explain these complicated diseases to family and friends.

  5. What is an orphan disease?
    According to the Rare Disease Act of 2002, an orphan disease, also known as a rare disease, affects less than 200,000 persons in the U.S., or less than 1 in 1500 people. The criteria may vary in other countries. For example in Europe, an orphan disease is defined to occur in less than 1 in 2000.

  6. How many orphan diseases are there?
    According to the National Institutes of Health there are approximately 6800 such diseases. Combined, they affect nearly 30 million Americans.

  7. Where can I learn more about rare diseases in general?

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