Diane Schriner, Vice President of Erdheim-Chester Disease Global Alliance, provides an overview of Erdheim-Chester disease (ECD).



ECD is a rare blood cancer characterized by the overproduction of histiocytes, which then accumulate in tissues and organs. The disease can affect many parts of the body including the long bones, retroperitoneum, skin, eyes and eyelids, lungs, brain, heart, kidneys, and pituitary gland; however various other tissues or organs can be affected. The signs and symptoms of ECD vary depending upon the specific locations and extent of involvement, making diagnosis difficult. 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 genetic change in the BRAF gene or one of several other genes, which may allow histiocytes to reproduce uncontrollably.


Currently there are two targeted therapies approved by the U.S. Food and Drug Administration (FDA) for treatment of ECD. These include vemurafenib, a BRAF inhibitor, and cobimetinib, a MEK inhibitor. Clinical trials are currently ongoing for expanded targeted therapies.


As Ms. Shriner explains, common challenges for patients with ECD include the burdensome symptoms of fatigue and bone pain. In addition, patients in the U.S. have much better access to treatments and care than those in other countries, with cost also playing an important role. To assist patients in these unmet needs, the ECD Global Alliance connects patients with local physicians and other patients to foster community and access to resources.


For more information on ECD Global Alliance and their resources, click here.


To learn more about rare cancers, visit https://checkrare.com/diseases/cancers/