Warning Signs Of Erdheim-Chester Disease

Erdheim-Chester disease is a very rare disease that causes the immune system to overproduce histiocytes, resulting in an accumulation of the cells in the organs and other tissues. The disease affects many parts of the body including the long bones, skin, eyes, brain, heart, and kidneys. The cause of Erdheim-Chester disease is not known, but research indicates a gene mutation may be to blame. There is currently no known cure for Erdheim-Chester disease and treatment varies, depending on the patient's symptoms. Reveal the most commonly seen symptoms of Erdheim-Chester disease now.

Bone Pain

Individuals with Erdheim-Chester disease typically have bone pain. More specifically, pain in the bones tends to be localized in the arms and legs. Although rare, the pain can extend to other areas of the body as well, such as the lower jaw and spinal column. As Erdheim-Chester disease advances and the accumulation of histiocytes increases, the body responds by increasing bone density. Pain in the bones is typically dull and can feel as though it is located deep within the bone. For most, pain typically begins in the legs and may be accompanied by fever, muscle aches, weakness, and fatigue.

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Rapid, Involuntary Eye Movement

In rare cases, Erdheim-Chester disease may also affect the brain stem and cerebellum, which are responsible for the coordination of balance, movement, and posture. The damage often results in individuals experiencing rapid, involuntary eye movement, called nystagmus. Depending on the severity of the patient's condition, physicians may employ different methods to treat the involuntary eye movement. For minor nystagmus, a change in or the addition of glasses or contacts may be advised. While it won't cure the nystagmus itself, it can help correct other vision issues that may make it worse. For more progressed nystagmus, physicians may suggest surgical intervention.

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Slurred Speech

Damage to the lower brainstem and cerebellum may also affect an individuals ability to speak, resulting in slurred speech, also known as dysarthria. Outside of the complications regarding speaking, dysarthria can lead to social difficulty, as communicating with family and friends may be a challenge. Individuals may isolate themselves isolating themselves from social encounters and depression may also ensue due to this isolation. If the ability to speak is severely impacted, physicians may refer patients to a speech therapist, who can assist patients with strengthening their jaw muscles and slowing the progression of their slurred speech, as related to the disease.

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Shortness Of Breath And Fatigue

Individuals with Erdheim-Chester disease may experience shortness of breath and fatigue. As the disease continues to attack the body, histiocytes accumulate in the lungs decreasing their ability to function effectively. Individuals with shortness of breath may feel as though they are constantly winded, and even the simplest physical tasks may leave them feeling out of breath and fatigued. Individuals with shortness of breath and fatigue that is severely impacting their life may be referred to a pulmonologist for pulmonary rehabilitation treatment, which may include an oxygen tank to supplement oxygen levels produced by the damaged lungs as well as pulmonary exercises to strengthen the lungs and oxygen output.

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Reduced Kidney Function

Erdheim-Chester disease progression may lead to histiocytes building up in the kidneys, resulting in reduced kidney function and possible renal failure. The kidneys are the organs responsible for waste removal and the elimination of extra water in the blood. When kidney function is reduced, toxins and other impurities can accumulate in the blood, resulting in an individual feeling fatigued and unable to focus. Reduction in kidney function can also lead to anemia, which is insufficient iron in the blood. If kidney function is severely reduced, a patient may need to undergo dialysis, the filtering and cleansing of the blood through a machine, or a kidney transplant, if dialysis is not an option or has proven ineffective.