What are some Symptoms of Erdheim-Chester Disease?

ECD symptoms depend on which organ(s) is involved, which varies with each patient. For this reason, the symptoms of ECD will also vary with each patient. Only a doctor can diagnose ECD, but some of the more common symptoms might include:

  • The most common symptom reported is bone pain in the long bones of the legs and arms on both sides (bilateral). Leg pain occurs most often in the knees, shins and ankles. Arm pain is most often in the upper arms. More than 50% of ECD patients share this symptom, but it is important to note some patients never have bone pain symptoms.
  • General symptoms of weight loss; fever; night sweats; muscle and joint aches; feeling of discomfort, weakness, and fatigue (malaise); flu-like symptoms that linger or continue to return
  • Excessive thirst and urination (diabetes insipidus)
  • Balance issues; difficulty walking (ataxia); slurred speech (dysarthria); involuntary, rapid eye movements (nystagmus)
  • Lower back, flank or abdominal pain, often associated with kidney issues (retroperitoneal fibrosis); reduced kidney function
  • Bulging of the eye (exophthalmos)
  • Vision difficulties. These may include bilateral fluttering in the peripheral vision, double vision, reduced vision or other vision disturbances.
  • Sore or bump under the skin (xanthomas), rash
  • Shortness of breath (dyspnea)
  • Increased susceptibility to infections

A single patient may have a different combination of these symptoms, along with others. This is partly what makes ECD so difficult to diagnose. By taking a systemic view of symptoms, it may be possible to test for and diagnose ECD earlier. This will potentially give patients the best chance for a successful treatment plan.

Last updated: May 30, 2017

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