In the medical community, Erdheim-Chester Disease is a rare condition that causes overproduction of white blood cells, known as histiocytes, in the body. These cells normally work to fight infection and to protect the body from foreign substances. However, if they multiply too much, they can damage tissues. It is believed that this type of disease is caused by a mutation in a gene called BRAFV600E.
As a result of the abnormal growth of the cells, there are a wide variety of symptoms that an affected individual may experience. The most common of these symptoms is bone pain. Other symptoms include weakness, shortness of breath, and fatigue. Some people also develop infertility.
An affected person can also experience neurological complications, including headaches and seizures. This can be caused by an abnormally high pressure in the fluid inside the brain and skull. ECD can affect the brainstem and pituitary gland. There is also an increased risk for developing diabetes insipidus.
If left untreated, a patient can have severe complications and may die. The most common symptom of Erdheim-Chester disease is bone pain. The bones in the arms and legs can also be affected, although there are no symptoms relating to the kidneys. Symptoms of the disorder are not usually found in children. Although the condition can affect adults of any age, men are more likely to develop it than women.
Typical ECD symptoms include sclerotic lesions on the long bones. Patients with ECD often also experience flu-like symptoms. Bone pain and muscle and joint aches are common in people who have the disease. Sometimes, the disease affects the eye and lungs. Occasionally, the patient experiences skin growths. A few patients have a rare form of osteolytic lesions.
In addition to bone and gastrointestinal symptoms, the disease can also cause inflammation. It may affect the kidneys, eyes, arteries, and other organs. Additionally, it can cause abnormally high blood pressure and seizures. When the condition is present in the central nervous system, it can cause headaches, impaired memory, and cognitive impairment.
Because of the wide variety of symptoms, it can be difficult to diagnose an individual with the condition. Many of the symptoms are similar to those of other diseases, so a proper diagnosis is vital. In order to ensure the proper treatment, a doctor should carefully review the history of the patient. Usually, the disease is diagnosed with a biopsy or a tumor sample. Depending on the results, a doctor can use immunohistochemical staining to confirm a diagnosis.
Patients with Erdheim-Chester Disease are generally not able to walk, talk, or swallow properly. People with the disease may also experience an abnormal increase in bone density. Symptoms can be life-threatening, but the good news is that it is a treatable disease. Those with the disorder have a life expectancy of about nine to ten years.
If you are interested in learning more about this condition, visit the Histiocytosis Association. They can give you information about the disease and host in-person patient events. You can also build your own page on PatientsLikeMe, a social networking site for those with the condition.
