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Erdheim-Chester disease is a rare medical disorder that causes an abnormally high production of a specific type of white blood cell known as a histiocyte. This disease can affect anyone at any age, although it is most common among men more than the age of 50. Some of the symptoms of the disease may include bone pain involving the arms and legs, weight loss, and coordination problems. More severe symptoms often include damage to the heart, kidney failure, and the development of abnormal masses or growths throughout the body. Treatment options include the use of prescription medications, chemotherapy, or radiation therapy, although the disease is usually fatal, even with aggressive treatment.
Bone pain is the most commonly reported symptom of Erdheim-Chester disease and frequently involves the long bones of the arms and legs. This pain is often described as relatively mild, yet constant. Joint and muscle pain are also common among those with this disease, typically causing varying degrees of weakness and fatigue.
Fever, weight loss, and night sweats are often present in Erdheim-Chester disease, sometimes leading to misdiagnosis for a number of years, because several other conditions carry these symptoms as well. Many times, more severe symptoms must develop before this disease is accurately diagnosed. Later in the course of the disease, balance and coordination issues usually develop, and the patient may experience breathing difficulty or pain.
As Erdheim-Chester disease begins to progress, damage may occur to vital organs such as the heart or the kidneys. Abnormal tissue may begin to grow in or around the heart, leading to decreased cardiac function. The kidneys are usually affected as well, and dialysis may become necessary in order to prolong the life of the patient. Lung disease is common, and abnormal masses or lesions may begin to grow in various areas of the body, including the brain.
Treatment for Erdheim-Chester disease primarily consists of treating individual symptoms and keeping the patient as comfortable as possible. This often involves the use of prescription medications, although some lesions may be treated with radiation or chemotherapy. Surgical intervention may be needed to treat some symptoms or complications related to this disease. Due to the fact that multiple body systems are affected by this disease, the condition is normally fatal, even with the use of aggressive treatment methods. Any individualized questions or concerns about Erdheim-Chester disease should be discussed with a doctor or other medical professional.