Erdheim-Chester Disease - Medtick

Erdheim-Chester Disease

What is it?

A very rare condition that can affect many organs of the body and so there can be a range of symptoms depending on the organs affected.

  • Increase in blood cells (myeloid cells) in the bone marrow causes the hardening and weight  of bones and  increases the weight of tissue in the affected organs.
  • This causes the affected tissue to become thickened and dense which stops the organs functioning properly

Parts of body affected:

  • 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

Histiocytosis Association

Cause

  • Increase in a type of blood cell (myeloid cells) which builds up in areas around the body
    • Excessive production and accumulation of histiocytes within multiple tissues and organs.
    • Histiocytes are large phagocytic cells (macrophages) that normally play a role in responding to infection and injury. (A phagocytic cell is any “scavenger cell” that engulfs and destroys invading microorganisms or cellular debris.)
  • Mutations of the BRAF V600E gene

Symptoms

  • Increased bone density and hardening of bones causing bone pain?
  • Joint pain and stiffness?
  • Aching, painful muscles, muscle cramps/spasms/stiffness?
  • Difficulty using arms, body and legs, lack of stamina, walking difficulties?
  • Tremors (shaking)?
  • Swollen ankles?
  • Headache which is on and off or a constant headache longer than 24 hours?
  • High temperature greater than 38°C (100°F) or over and/or chills and sweats longer than 72 hours?
  • Night sweats?
  • General discomfort (muscle weakness), uneasiness or ill feeling (malaise) and/or fatigue (tiredness)?
  • Balance and dizziness?
  • Blurred vision?
  • Rapid, uncontrolled eye movement?
  • Yellow nodule or patches around the eye which range in size of 2mm–30mm, Flat-surfaced and has distinct borders (well-defined that does not usually go away on its own and/or More lesions developing or existing ones grow bigger and/or are Non- itchy or tender?
  • Shortness of breath/breathing difficulties?
  • Jaw pain and/or difficulty chewing, swallowing talking and/or slurred speech and/or difficulty in opening the mouth and /or difficult to eat?
  • Heart palpitations and/or irregular heartbeat?
  • Chest pain?
  • Recurrent chest infections?
  • Long term persistent indigestion and/or frequent heartburn or constant abdominal pain?
  • Unexplained weight loss?
  • Increase thirst, heavy sweating and need to urinate frequently?
  • Pain in pelvis area and/or lower back?
  • Irritated, depressed, anxiety and/or panic attack?

Complications /Information to beware of/General tips:

This condition can lead to:


This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

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