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Warning-sign checks

Homocystinuria: 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

    These symptoms need assessment but are not always emergencies.

    Seek emergency help for possible signs of a blood clot or stroke, including:

    • Sudden weakness, numbness, facial drooping, or difficulty speaking
    • Sudden loss of vision or a severe new neurological symptom
    • New chest pain, coughing up blood, or unexplained shortness of breath
    • Painful swelling, warmth, or redness in one leg
    • Collapse, severe confusion, or a seizure lasting longer than usual
    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 metabolic team promptly if you cannot take your usual treatment, have repeated vomiting or diarrhoea, become dehydrated, or expect to have surgery.

    Planning is also important before pregnancy and during long journeys or periods of reduced movement.

    These symptoms can have several causes, but they require urgent assessment.

  3. 3

    Does any of this apply?

    Book an appointment

    Arrange routine medical advice if you develop new blurred vision, rapidly changing eyesight, bone pain, repeated fractures, worsening balance, seizures, or changes in learning, behaviour, or mood.

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