The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of epiphysis morphology | Very frequent (present in 80%-99% of cases) |
| Abnormality of the metaphysis | Very frequent (present in 80%-99% of cases) |
| Bone pain | Very frequent (present in 80%-99% of cases) |
| Diabetes insipidus | Very frequent (present in 80%-99% of cases) |
| Dysuria | Very frequent (present in 80%-99% of cases) |
| Fatigue | Very frequent (present in 80%-99% of cases) |
| Fever | Very frequent (present in 80%-99% of cases) |
| Hyperhidrosis | Very frequent (present in 80%-99% of cases) |
| Hypogonadotrophic |
Very frequent (present in 80%-99% of cases) |
| Increased bone mineral density | Very frequent (present in 80%-99% of cases) |
| Osteolysis | Very frequent (present in 80%-99% of cases) |
| Osteomyelitis | Very frequent (present in 80%-99% of cases) |
| Polydipsia | Very frequent (present in 80%-99% of cases) |
| Proptosis | Very frequent (present in 80%-99% of cases) |
| Weight loss | Very frequent (present in 80%-99% of cases) |
| Xanthelasma | Very frequent (present in 80%-99% of cases) |
| Abnormality of the aortic valve | Frequent (present in 30%-79% of cases) |
| Hydronephrosis | Frequent (present in 30%-79% of cases) |
| Joint swelling | Frequent (present in 30%-79% of cases) |
| Retroperitoneal fibrosis | Frequent (present in 30%-79% of cases) |
| Abnormality of the pericardium | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Aseptic necrosis | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Congestive heart failure | Occasional (present in 5%-29% of cases) |
| Cough | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Dyspnea | Occasional (present in 5%-29% of cases) |
| Hyperreflexia | Occasional (present in 5%-29% of cases) |
| Interstitial pulmonary abnormality | Occasional (present in 5%-29% of cases) |
| Nausea and vomiting | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Pleural effusion | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Pulmonary fibrosis | Occasional (present in 5%-29% of cases) |
| Renal insufficiency | Occasional (present in 5%-29% of cases) |
| Skin rash | Occasional (present in 5%-29% of cases) |
| Visual impairment | Occasional (present in 5%-29% of cases) |
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.
The Histiocytosis Association of America has created the Erdheim-Chester Disease (ECD) Registry to ease the difficulty in the diagnosis and treatment of ECD. For more information about this Registry, contact:
Christine Toughill, Outreach Coordinator
Histiocytosis Association of America
332 North Broadway
Pitman, NJ 08071
Phone: (856) 589-6606
Fax: (856) 589-6614
Email: christinetoughill@histio.org
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.
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.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
2015 Erdheim Chester Disease Medical Symposium
Thursday, October 8, 2015
Location: MD Anderson Cancer Center,
Houston,
TX
Description: The 3rd Annual International ECD Medical Symposium will be held at MD Anderson in Houston, Texas on October 8. Medical professionals from around the world will come together to share the latest research findings related to ECD, discuss the care of patients, and develop collaborations to further research. All medical professionals with interest in ECD and ECD patients are encouraged to register.
Contact:
Co-funding Institute(s):
Erdheim-Chester Disease International Medical Symposium
Thursday, September 18, 2014 -
Thursday, September 18, 2014
Location: Building 45, NIH Campus,
Bethesda,
MD
Description: The goals of the symposium will be to facilitate collaboration among the international ECD medical community that will work toward: (1) Sharing knowledge across specialties, (2)Developing standard treatment protocols, and (3)Implementing cross-institutional scientific studies
Contact: Juvianne Estrada-Veras, M.D.,(301) 594-2952estradaverasji@mail.nih.gov
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
The following diseases are related to Erdheim-Chester disease. If you have a question about any of these diseases, you can contact GARD.
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. Submit a new question
What causes Erdheim-Chester disease? See answer
