Erdheim-Chester Disease

Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis.

It involves the excessive production of histiocytes, which are a type of white blood cell. These cells, which normally help fight infection and injury, then gather in different organs and tissues and can result in a variety of symptoms, including organ failure.

Erdheim-Chester is a disease that most often becomes apparent in middle age, with an average age at onset of 53 years. It can affect men and women. The rate of occurrence is not known, although it is believed to be under-diagnosed and/or misdiagnosed. At the present time, it is not categorized as a cancer, immune disorder, or infection. It is not believed to be contagious or hereditary. The cause is not known.

The first two cases of ECD were reported by scientists Jakob Erdheim and William Chester in 1930. In 1972, Dr. Ronald Jaffe reported a third case and coined the name Erdheim-Chester disease (ECD).

This disease mostly affects long bones (arms and legs), but it can occur in the tissues behind the eyeballs, kidney, skin, brain, lung, heart, pituitary gland, and a part of the posterior abdominal wall called the retroperitoneum. Erdheim-Chester is sometimes mistaken for Langerhans cell histiocytosis. However, a biopsy of the affected tissue differs in a number of ways from LCH and can establish a definite diagnosis. The cells in ECD stain for the same proteins as JXG but the clinical presentation and age is different. The symptoms and course of the disease depend on the location and extent of the involvement of the internal organs (i.e. the disease outside the bones).

Because this is a very rare disease, no large studies have been performed, and no treatment plan has been established that is widely accepted. However, various treatments have been used with limited success. These include steroids, immunotherapy (treatment to restore the ability of the immune system such as interferon), chemotherapy to control the over-production of cells, the use of high-energy rays (radiation therapy), and/or surgery. While these treatments may control the symptoms and growth of the disease, there is no known “cure.”

Erdheim Chester can be life-threatening with complications such as heart failure, severe damage to the lungs, and kidney failure. However, with treatment, there are patients who are able to live a near-normal life.

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Erdheim-Chester can involve many different systems in the body and most often affects the long bones. In order of frequency, it also occurs in the kidney, retroperitoneum, skin, brain, lung, tissue behind the eyes, pituitary gland, and heart. The following symptoms may indicate disease involvement but are not necessarily diagnostic. The disease varies greatly from patient to patient, and some but not all of these symptoms may be present.

  • Bone (usually long bones of the legs and arms but also knees, shins, ankles, arms, and rarely in the lower jaw, facial bones, and spinal column)
    Pain - this may be specific to one area or more widespread, sometimes associated with muscle pain
  • Kidney
    Lower back pain, reduced kidney function/painful or difficult urination
  • Retroperitoneum (a part of the internal abdominal wall)
    Abdominal or lower back pain, painful or difficult urination
  • Skin/Eyelids
    Rash or soft, fatty, yellow bumps
  • Brain (brain stem and cerebellum)
    Difficulty with coordination, staggering gait, slurred speech, behavior disorders, and rapid, involuntary eye movement (nystagmus). Diabetes insipidus is common
  • Lung
    Dry cough, shortness of breath with exercise
  • Eyes (tissue behind the eyes/eyelids)
    Pain and redness, bulging eyes, difficulty with vision including double vision, yellow bumps on the eyelids
  • Pituitary gland (diabetes insipidus)
    Excessive thirst and urination
  • Heart
    Shortness of breath, fatigue, and swelling of feet, ankles, and lower legs
  • Additional Symptoms
    Weight loss, fever, muscle and joint aches, night sweats, weakness/fatigue, and increased tendency to get infections

Involvement of more than one system is not uncommon. While the long bones are the most frequently affected sites, more than 50% of patients have involvement in other parts of the body. Lung symptoms are due to progressive scarring and thickening of the lung tissue and can affect the ability of the heart to pump enough blood to the lungs and the rest of the body. Diabetes insipidus is believed to occur in 30% of patients. ECD of the heart causes problems when histiocytes accumulate in the valves or heart muscle and affect the heart’s ability to pump blood through the arteries.

It is important to remember that symptoms alone do not diagnose ECD. Thus, it is important to consult a physician to receive an appropriate workup and accurate diagnosis.

Diagnosis and Treatment

The National Comprehensive Cancer Network® (NCCN®) - an alliance of leading cancer centers - announced the publication of new NCCN Guidelines® for histiocytosis. These clinical practice guidelines provide the latest evidence and expert-consensus for diagnosing and treating the three most common forms of histiocytosis in adults: Langerhans cell histiocytosis (LCH), Erdheim-Chester Disease (ECD,) and Rosai Dorfman Disease (RDD). Although the guidelines are focused on adult patients, there may be insight for pediatric physicians as well. The Guidelines are listed as "histiocytic neoplasms" and can be found on NCCN's website.

You can find consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease, here. It is encouraged that you share this with your physicians for reference.

Because it is so rare, Erdheim-Chester disease is often difficult to diagnose. Patients may go for months and even years after symptoms start until they are properly diagnosed. This disease is sometimes mistaken for Langerhans cell histiocytosis, and a thorough workup including biopsy is necessary to tell the difference between the two diseases. There are also differences in the appearance of the bone lesions on x-ray, but x-ray alone is not diagnostic.

A biopsy involves taking a small piece of the affected tissue so that it can be viewed under a microscope by a pathologist. If the cells in the tissue have specific characteristics, the diagnosis of ECD can be made. One of these characteristics is the presence of foamy histiocytosis with signs of inflammation and something called Touton-type giant cells. Unlike LCH, the cells in Erdheim-Chester disease do not have Birbeck granules or stain positively for something called the S-100 antigen or CD1a. ECD cells stains positively for the same proteins as JXG, that is CD68 and factor XIIIa.

Once the diagnosis is made, the extent of disease should be established. Further diagnostic testing will depend on the individual case and may include testing similar to that used for Langerhans cell histiocytosis:

  • Physical examination, history of symptoms, past illnesses, etc.
  • Blood tests: To evaluate function of the internal organs such as heart and kidneys.
  • Neurological examination: Testing of ability to walk, muscle testing, coordination, etc.
  • X-ray: This can be performed of the lungs or the bones to determine if there are abnormalities.
  • Bone scan: This is a type of x-ray that looks for bone lesions. A small amount of radioactive material is injected into a vein, collects in any abnormal parts of the bones, and is shown on a scanner.
  • CT scan: This is an x-ray that takes a number of detailed pictures at different angles inside the body. Dye may be injected into a vein or swallowed to help find any abnormalities.
  • MRI: This is another kind of x-ray that takes a number of detailed pictures inside the body. A substance called gadolinium may be injected into a vein.
  • PET scan: A small amount of radioactive sugar is injected into a vein, and diseased cells show up brighter on the scanner.
  • Ultrasound: This is a kind of x-ray procedure where high-energy sound waves are bounced off organs and tissue and make echoes, which form a picture of the internal body.
  • Electrocardiogram: This is a tracing of the heart rate and rhythm.
  • Echocardiogram: This uses sounds waves to provide pictures of the heart in order to evaluate blood flow and heart function.
    The severity of the disease is determined by how widespread the involvement occurs outside of bone and whether internal organs are affected.

Because this is a very rare disease, no large studies have been performed, and no treatment plan has been established that is widely accepted. However, various treatments have been used by individual doctors with different levels of success. These include:

  • Systemic corticosteroids
    A kind of drug based on hormones that work to reduce inflammation in the body.
  • Immunotherapy
    The purpose of this treatment, also known as interferon, is to restore the ability of the immune system to fight off infections. It is usually given as an injection.
  • Chemotherapy

Drugs usually given in the vein to control the over-production of histiocytes. This may include vinblastine (Velban), vincristine (Oncovin), cyclophosphamide (Cytoxan), doxorubicin (Adriamycin), and cladribine (2CdA). Other drugs such as methotrexate, Gleevec, Tamoxifen, Imuran, and CellCept have also been used. New therapies which target the chemicals (cytokines) produced in excessive amounts in patients with ECD have been tested in a very small number of patients with ECD and may prove beneficial in the future but would be considered experimental at present.

  • Radiation
    This involves the use of high-energy rays to destroy rapidly increasing histiocytes.
  • Surgery
    This may be used to decrease symptoms caused by masses of histiocytes.

It is important to remember that while these treatments may control the symptoms and growth of the disease, to date, there is no known “cure” for Erdheim-Chester.


What Do I Do Now?

A new diagnosis of a histiocytic disorder can bring feelings of being overwhelmed, bewildered, scared, angry, sad, disappointed, helpless, and sometimes even feelings of guilt.  It is a time filled with unknowns, change, and new people and situations.  Most parents feel ill-equipped to understand what is happening to their child and how to navigate through the illness to recovery.  There are, however, strategies and resources that can help you, your child, and other family members get through the uncertain times that lie ahead. One step at a time, you can gather information, create a support system, learn how to cope with stress, and become a strong advocate for your Histio Warrior as part of the medical team. The following tips and suggestions are provided to help guide you through this journey toward your Histio Warrior's good health.

Printable Fact Sheets

Learn more about the different types of histiocytic disorders from these helpful fact sheets. Printing these for family and friends is a quick and easy way to teach them about the disease. More extensive information can be found in the Disease Information section of our website.

Choose from the following Fact Sheets:

Histiocytic Disorders Overall FAQ