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

Please copy and paste any key words from the title: Erdheim-Chester Disease in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

  • NHS

    Find information and advice on health conditions, symptoms, healthy living, medicines and how to get help (British National Health Service).

  • Medscape

    Latest medical news and expert commentary in your specialty as well as disease information.

  • Pharmaceutical Journal

    The Pharmaceutical Journal covers analysis, features, opinion, learning and careers articles, providing insight and knowledge about drugs, pharmacy practice, medicines use and healthcare policy in the context of the pharmacy profession and pharmaceutical science.

  • Healthline

    Medical Information and health advice you can trust

  • ChatGPT

    Get instant answers, find creative inspiration, and learn something new.

  • Medical News Today

    Medical news and health news headlines posted throughout the day, every day.

  • WebMD

    Better Information. Better Health.

  • Cleveland Clinic

    Pushing the Standards of care.

  • Mayo Clinic

    No.1 Hospital in the Nation (America)

  • Drugs.com

    Know more. Be sure.

  • National Organisation of Rare Diseases

    NORD is dedicated to supporting education, elevating care, advancing research, and driving policy for rare diseases.

  • Verywell Health

    Know more. Fell better.

  • Fit for Travel

    Information on how to stay safe and healthy abroad.

  • DR Axe

    Health and fitness news. Recipes, Natural Remedies