Erdheim-Chester disease

Title

Other Names:

ECD; Erdheim Chester disease; Lipoid granulomatosis

Categories:

Musculoskeletal Diseases; Skin Diseases

This disease is grouped under:

Non-Langerhans-Cell Histiocytosis

Summary Summary

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

Symptoms Symptoms

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
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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Treatment Treatment

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.

Vemurafenib (Brand name: Zelboraf) - Manufactured by Genentech, Inc.
FDA-approved indication: Treatment of patients with Erdheim-Chester Disease with BRAF V600 mutation.
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Related Diseases Related Diseases

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 Research

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

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Erdheim-Chester disease. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Erdheim-Chester disease:
Erdheim-Chester Disease Registry
International Rare Histiocytic Disorders Registry (IRHDR)

Organizations Organizations

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

ECD Global Alliance
P.O. Box 775
DeRidder, LA 70634
E-mail: http://erdheim-chester.org/contact-us/
Website: http://www.erdheim-chester.org

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).

Organizations Providing General Support

Histio Connect UK
United Kingdom
Telephone: +44 07850 740241
E-mail: letstalk@histioukconnect.org
Website: https://histioukconnect.org/
Histio UK
PO Box 159
Liskeard, PL14 9DQ United Kingdom
Telephone: 07850 740241
E-mail: Histio@HistioUK.org
Website: https://www.histiouk.org/
Histiocytosis Association
332 North Broadway
Pitman, NJ 08071
Toll-free: 1-800-548-2758 (from US and Canada)
Telephone: +1-856-589-6606
Fax: +1-856-589-6614
E-mail: info@histio.org
Website: https://www.histio.org/

Do you know of an organization? We want to hear from you.

Living With Living With

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

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

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

The Histiocytosis Association provides information about Erdheim-Chester disease.
MedlinePlus Genetics contains information on Erdheim-Chester disease. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

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