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Warning-sign checks

Gaucher disease: when to get help

Go through these in order and stop at the first one that applies. If you are reading this for someone else, answer for them.

  1. 1

    Is any of this happening now?

    Call 911

    Seek emergency care for:

    • Difficulty breathing, blue or grey lips, or choking
    • Bleeding that is heavy or will not stop
    • A first seizure or a seizure lasting longer than your emergency plan allows
    • Sudden severe abdominal pain, especially after an injury
    • Collapse, loss of consciousness, or inability to wake normally
    Other emergency signs, for anyone
    • Someone who is struggling to breathe, gasping, choking, or cannot get words out
    • Someone who has chest pain, tightness or pressure lasting more than a few minutes
    • Someone who has sudden weakness or drooping on one side of the face or body, slurred speech, or sudden confusion
    • Someone who is unconscious, or cannot be woken
    • Someone who is bleeding heavily and it will not stop with firm pressure
    • Someone who has had a seizure that will not stop, or does not wake up afterwards
    • Someone who has lips or skin that look pale, blue, grey or blotchy
    • Someone who you believe has taken an overdose or swallowed something poisonous
  2. 2

    Is any of this happening?

    Be seen today

    Contact your specialist team sooner about increasing fatigue, more frequent bruising, new abdominal fullness, worsening bone pain, reduced mobility, or changes in balance, eye movement, swallowing, or development.

    Seek urgent medical advice for severe bone pain, a possible fracture, rapidly increasing bruising, persistent bleeding, or fever if you have had your spleen removed.

    Follow any infection plan provided after spleen surgery.

    These symptoms can have causes other than Gaucher disease, but they need prompt assessment.

  3. 3

    Does any of this apply?

    Book an appointment

    Attend routine follow-up as recommended, even if you feel well.

Every sign above is quoted from the sofidex article on Gaucher disease. If you are not sure, err upward — it is always reasonable to be checked.