Skand Shekhar, MD, Principal Investigator at the National Institutes of Health (NIH), discusses Erdheim-Chester disease diagnosis and treatment options.
ECD is a rare blood cancer characterized by the overproduction of histiocytes, which then accumulate in tissues and organs in the body. 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. As Dr. Shekhar mentions, diabetes insipidus is the most common manifestation, and often the first, of ECD.
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.
Dr. Shekhar explains that patients with ECD often experience a delay in their diagnosis, attributing this to an absence of proper testing and inadequate disease management. However, genetic testing is making achieving an accurate and timely diagnosis more possible. Patients may also find better care and treatment at specialized ECD centers.
Currently there are two targeted therapies approved by the U.S. Food and Drug Administration for treatment of ECD. These include vemurafenib, a BRAF inhibitor, and cobimetinib, a MEK inhibitor. Clinical trials are currently ongoing for expanded targeted therapies.
For more information on ECD and other rare blood disorders, visit https://checkrare.com/diseases/hematologic-disorders/
