Background: - Erdheim Chester Disease (ECD) is a very rare disease in which abnormal white blood cells start growing and affect the bones, kidneys, skin, and brain. ECD can cause severe lung disease, kidney failure, heart disease, and other complications that lead to death. Because ECD is a rare disease, found mostly in men over 40 years of age, there is no standard treatment for it. More information is needed to find out what genes can cause ECD and how best to treat it. Objectives: - To collect study samples and medical information on people with Erdheim Chester Disease. Eligibility: - Individuals 2 to 80 year of age who have been diagnosed with Erdheim Chester Disease. Design: - Participants will be screened with a physical exam and medical history. - Participants will have a study visit to provide samples for study, including blood, urine, and skin tissue samples. Participants will also have lung, heart, and muscle function tests; imaging studies of the brain, chest, and whole body; a treadmill running stress test; an eye exam; and other tests as needed by the study doctors. - Participants will be asked to return for a similar set of tests every 2 years, and to remain in contact for possible treatment options.
Description: To comprehensively describe the natural history of ECD, including genetic and epidemiological aspects, its associated complications, and responses to various treatments.Measure: To comprehensively describe the natural history of ECD, including genetic and epidemiological aspects, its associated complications, and responses to various treatments. Time: 1 day
Description: To identify molecular markers important for diagnosis and treatment.Measure: To identify molecular markers important for diagnosis and treatment. Time: 1 day
There is one SNP
We will analyze the data with the assistance of an NIH statistician using parametric and non-parametric methods to assess overall trends in survival, and to look for patterns in organ involvement, patterns in response to various therapeutic regimens, and, lastly, to look for an association between the BRAF V600E mutation and disease severity. --- V600E ---