Erdheim-Chester Disease (ECD)

What is Erdheim-Chester disease (ECD)?

Erdheim-Chester disease (ECD) is a rare, slow moving, multisystem blood cancer that is characterized by the excessive production and accumulation of a type of white blood cells called histiocytes. Histiocytes are large cells that normally help in responding to infection or injury, but when they are in this excess, they gather in different organs and tissues, resulting in an abnormal increase in bone density and organ failure.

What causes Erdheim-Chester disease (ECD)?

The specific underlying cause of ECD is not known, though some speculate that it represents an abnormal inflammatory process and/or fibrosis.

What are the symptoms of Erdheim-Chester disease (ECD)?

ECD most often becomes apparent in middle age, when patients begin to experience bone pain, especially in the lower legs and upper arms caused by the hardening and thickening of bone density. In addition to this telltale sign, more generalized symptoms may also develop, such as weight loss, fever, muscle aches, weakness, and fatigue. Besides bone pain, patients with ECD may also show signs of the condition in the skin, tissues behind the eyeballs, the lungs, the brain, and the pituitary gland, leading to additional complications in these associated areas.

How is Erdheim-Chester disease (ECD) diagnosed?

ECD is diagnosed after a thorough clinical evaluation, a comprehensive patient history, and the results from a series of specialized tests. These tests may include CT scans and X-rays that can reveal symmetrical increased hardening and thickening of the bones. A diagnosis of ECD may be confirmed using a tissue biopsy.

What are the available treatments for Erdheim-Chester disease (ECD)?

Some of the recommended treatments for ECD include corticosteroid drugs, chemotherapeutic drugs to control the growth of histiocytes, and radiation therapy to destroy or injure histiocytes. However, reports of using these treatments on ECD patients have indicated minimal success, and further research is needed to determine the optimal therapy for this condition. Other treatment for ECD patients is supportive and symptomatic.

Where can I find more information on Erdheim-Chester disease (ECD)?

• Histiocytosis Association
• NIH
• National Organization for Rare Disorders (NORD)