Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
ECD; Erdheim Chester disease; Lipoid granulomatosis
Musculoskeletal Diseases; Skin Diseases
Erdheim-Chester disease (ECD) is a rare condition that can affect many parts of the body. It has been diagnosed in children, but it most commonly affects adults. ECD causes the over-production of immune
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.
The underlying cause of ECD is not always known. Some people with ECD test positive for an acquired (non
There is no cure or standard treatment for ECD. Various treatments have been attempted with varying success at controlling symptoms, including
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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Painful or difficult urination
[ more ]
[ more ]
|Increased bone mineral density||
Increased bone density
Breakdown of bone
Eyeballs bulging out
[ more ]
Fatty deposits in skin around the eyes
Fatty deposits on eyelids
[ more ]
|30%-79% of people have these symptoms|
Pain in stomach
[ more ]
|Abnormal aortic valve morphology||0001646|
|5%-29% of people have these symptoms|
|Abnormal cerebellum morphology||
Abnormality of the cerebellum
[ more ]
|Abnormal pericardium morphology||0001697|
Low number of red blood cells or hemoglobin
Death of bone due to decreased blood supply
|Congestive heart failure||
[ more ]
Difficulty articulating speech
|Nausea and vomiting||0002017|
Involuntary, rapid, rhythmic eye movements
Fluid around lungs
Drooping upper eyelid
Renal failure in adulthood
[ more ]
Loss of eyesight
[ more ]
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
National Library of Medicine Drug Information Portal
Medline Plus Health Information
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.
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.
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).
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.
- 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.
- 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.
- Erdheim Chester Disease. National Organization for Rare Disorders (NORD). 2018; https://rarediseases.org/rare-diseases/erdheim-chester-disease/.
- Jacobsen E. Erdheim-Chester disease. UpToDate. Waltham, MA: UpToDate; November 21, 2017; https://www.uptodate.com/contents/erdheim-chester-disease.
- BRAF gene. Genetics Home Reference (GHR). October, 2017; https://ghr.nlm.nih.gov/gene/BRAF#conditions.
- Erdheim-Chester Disease. Histiocytosis Association. https://www.histio.org/page.aspx?pid=403#.W2h72NVKhD9. Accessed 8/6/2018.