Erdheim-Chester Disease


Erdheim-Chester can involve many different systems in the body and most often affects the long bones. In order of frequency, it also occurs in the kidney, retroperitoneum, skin, brain, lung, tissue behind the eyes, pituitary gland, and heart. The following symptoms may indicate disease involvement but are not necessarily diagnostic. The disease varies greatly from patient to patient, and some but not all of these symptoms may be present.

  • Bone (usually long bones of the legs and arms but also knees, shins, ankles, arms, and rarely in the lower jaw, facial bones, and spinal column)
    Pain - this may be specific to one area or more widespread, sometimes associated with muscle pain
  • Kidney
    Lower back pain, reduced kidney function/painful or difficult urination
  • Retroperitoneum (a part of the internal abdominal wall)
    Abdominal or lower back pain, painful or difficult urination
  • Skin/Eyelids
    Rash or soft, fatty, yellow bumps
  • Brain (brain stem and cerebellum)
    Difficulty with coordination, staggering gait, slurred speech, behavior disorders, and rapid, involuntary eye movement (nystagmus). Diabetes insipidus is common
  • Lung
    Dry cough, shortness of breath with exercise
  • Eyes (tissue behind the eyes/eyelids)
    Pain and redness, bulging eyes, difficulty with vision including double vision, yellow bumps on the eyelids
  • Pituitary gland (diabetes insipidus)
    Excessive thirst and urination
  • Heart
    Shortness of breath, fatigue, and swelling of feet, ankles, and lower legs
  • Additional Symptoms
    Weight loss, fever, muscle and joint aches, night sweats, weakness/fatigue, and increased tendency to get infections

Involvement of more than one system is not uncommon. While the long bones are the most frequently affected sites, more than 50% of patients have involvement in other parts of the body. Lung symptoms are due to progressive scarring and thickening of the lung tissue and can affect the ability of the heart to pump enough blood to the lungs and the rest of the body. Diabetes insipidus is believed to occur in 30% of patients. ECD of the heart causes problems when histiocytes accumulate in the valves or heart muscle and affect the heart’s ability to pump blood through the arteries.

It is important to remember that symptoms alone do not diagnose ECD. Thus, it is important to consult a physician to receive an appropriate workup and accurate diagnosis.


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