Erdheim-Chester disease usually affects adults, both men and women. There have been only about 300 cases of the disease published in the worldwide medical literature. Since Erdheim-Chester disease is rare and most physicians are not familiar with it, the actual number of people who have the disease may be higher.
Symptoms of Erdheim-Chester Disease
Symptoms of Erdheim-Chester disease may include:- bone pain in the long bones of the arms and legs
- weight loss, night sweats, muscle and joint aches, weakness, and fatigue
- difficulty walking and movement (ataxia)
- difficulty speaking
- kidney problems
- soft tissue masses or lesions anywhere in the body
- bulging of the eye (exophthalmos) due to a mass behind the eye; vision problems
- shortness of breath; interstitial lung disease
- increased susceptibility to infections
- abnormal tissue in or around the heart
Diagnosis of Erdheim-Chester Disease
Different people experience different symptoms with Erdheim-Chester disease, so diagnosis of the disease may be difficult. X-rays, CT scans, MRIs, and bone scans look at the body tissues for abnormal thickening and masses or lesions. If a mass is found, a sample may be taken (biopsy) to look at the tissues under a microscope. In Erdheim-Chester disease, the biopsy would show clusters of histiocytes in the tissue. A chest x-ray would show if lung disease is present.Treatment of Erdheim-Chester Disease
Treatment of Erdheim-Chester disease focuses on relieving the symptoms and trying to reduce or remove the masses in tissues. Since so little is known about the disease, there is no standard treatment, so any medications or surgery would be based on an individual’s medical needs.Sources:
"What is Erdheim-Chester Disease?" ECD Global Alliance. 6 Apr 2009
Devouassoux, Gilles, Sylvie Lantuejoul, Patrick Chatelain, Elisabeth Brambilla, & Christian Brambilla. "Erdheim-Chester Disease: A Primary Macrophage Cell Disorder." Am J Respir Crit Care Med 157(1998): 650-653.
