National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Erdheim-Chester disease


Other Names:
ECD; Erdheim Chester disease; Lipoid granulomatosis
Categories:
This disease is grouped under:
Erdheim-Chester disease (ECD) is a rare condition that can affect many parts of the body.[1] It has been diagnosed in children, but it most commonly affects adults.[2] ECD causes the over-production of immune cells called histiocytes, which then accumulate in tissues and organs in the body. Parts of the body that may be involved include the long bones, retroperitoneum, skin, eyes and eyelids, lungs, brain, heart, kidneys, and pituitary gland; however various other tissues or organs can be affected.[1][2]

The signs and symptoms of ECD vary from person to person depending upon the specific locations and extent of involvement. For example, the long bones of the legs are commonly affected, leading to bone pain. When tissues around the eyes are affected, a person may have soft, fatty bumps on the eyelids or protrusion of the eyeballs. Lung involvement may cause pulmonary fibrosis, which can lead to life-threatening complications. People with pituitary gland involvement may develop diabetes insipidus, and brain involvement may lead to various neurologic symptoms. Non-specific symptoms that may develop in people with ECD include weight loss, fever, muscle and joint aches, and malaise.[1]

The underlying cause of ECD is not always known. Some people with ECD test positive for an acquired (non-inherited) mutation in the BRAF gene (most commonly) or one of several other genes, which may allow histiocytes to reproduce uncontrollably.[1][2][3] The disease is diagnosed based on the symptoms, biopsies of involved tissue examined under a microscope (pathology), and specialized tests that may include blood tests and imaging studies such as X-rays, CT scans, MRIs, and bone scans.[1][2]

There is no cure or standard treatment for ECD.[2][4] Various treatments have been attempted with varying success at controlling symptoms, including corticosteroids, chemotherapy, radiation therapy, immunotherapy, and surgery.[1][4] A medication called vemurafenib was approved by the FDA to treat some people with ECD who have the BRAF gene mutation.[1] The long-term outlook (prognosis) varies from person to person.[2] Without successful treatment organ failure can occur, but with treatment, there are people with ECD who are able to live a near-normal life.[4]
Last updated: 8/6/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Bone pain 0002653
Diabetes insipidus 0000873
Dysuria
Painful or difficult urination
0100518
Fatigue
Tired
Tiredness
[ more ] 		0012378
Fever 0001945
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] 		0000975
Hypogonadotropic hypogonadism 0000044
Increased bone mineral density
Increased bone density
0011001
Osteolysis
Breakdown of bone
0002797
Osteomyelitis
Bone infection
0002754
Polydipsia
Extreme thirst
0001959
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Weight loss 0001824
Xanthelasma
Fatty deposits in skin around the eyes
Fatty deposits on eyelids
[ more ] 		0001114
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Abnormal aortic valve morphology 0001646
Hydronephrosis 0000126
Joint swelling 0001386
Retroperitoneal fibrosis 0005200
5%-29% of people have these symptoms
Abnormal cerebellum morphology
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ] 		0001317
Abnormal pericardium morphology 0001697
Anemia
Low number of red blood cells or hemoglobin
0001903
Ataxia 0001251
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Cough
Coughing
0012735
Dysarthria
Difficulty articulating speech
0001260
Dyspnea
Trouble breathing
0002094
Hyperreflexia
Increased reflexes
0001347
Interstitial pulmonary abnormality
Abnormality in area between air sacs in lung
0006530
Nausea and vomiting 0002017
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Pleural effusion
Fluid around lungs
0002202
Ptosis
Drooping upper eyelid
0000508
Pulmonary fibrosis 0002206
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Skin rash 0000988
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
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Last updated: 7/1/2020

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Langerhans' cell histiocytosis, Rosai-Dorfman disease, Takayasu arteritis, Wegener's granulomatosis, primary hypophysitis, chronic recurrent multifocal osteomyelitis (see these terms), malignancies, neurosarcoidosis, mycobacterial infections and metabolic disorders.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Erdheim-Chester disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Erdheim-Chester disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Erdheim Chester Disease. National Organization for Rare Disorders (NORD). 2018; https://rarediseases.org/rare-diseases/erdheim-chester-disease/.
  2. Jacobsen E. Erdheim-Chester disease. UpToDate. Waltham, MA: UpToDate; November 21, 2017; https://www.uptodate.com/contents/erdheim-chester-disease.
  3. BRAF gene. Genetics Home Reference (GHR). October, 2017; https://ghr.nlm.nih.gov/gene/BRAF#conditions.
  4. Erdheim-Chester Disease. Histiocytosis Association. https://www.histio.org/page.aspx?pid=403#.W2h72NVKhD9. Accessed 8/6/2018.