Living with Erdheim-Chester disease
A rare slow-growing blood cell condition in which extra immune cells build up and cause inflammation in many organs.
Understanding Erdheim-Chester disease
The extra cells cause inflammation that can thicken and scar organs and tissues. Symptoms usually appear between ages 40 and 60, though it can occur at any age. Severity varies widely. Some people have few problems, while others have serious complications.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone pain, often in the lower legs and upper arms
- Bulging eyes (proptosis)
- Excess urination and thirst (diabetes insipidus)
- Fever and night sweats
- Tiredness (fatigue)
- Yellowish skin growths around the eyes (xanthelasma)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
ECD Global Alliance and Histiocytosis Association may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: ECD Global Alliance, Histiocytosis Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with ECD Global Alliance and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD doesn't describe a cause for this condition yet.
Also known as: erdheim chester disease; erdheim-chester syndrome; lipogranulomatosis; lipoid granulomatosis; polyostotic sclerosing histiocytosis
Patient organizations
- ECD Global AllianceErdheim-Chester disease · United States
- Histiocytosis AssociationErdheim-Chester disease · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Erdheim-Chester disease.
Explore research for Erdheim-Chester disease
Explore actively recruiting Erdheim-Chester disease studies with HealthSpark.
Find actively recruiting studies for Erdheim-Chester disease with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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