Dr Melissa Ng and Professor Simon Mead are consultant neurologists at the National Prion Clinic, University College London Hospitals, where Professor Mead is clinical lead. Dr Victoria Bradley is a consultant in, and clinical lead for, palliative medicine at Oxford University Hospitals NHS Foundation Trust. They share a particular interest in neuropalliative care and improving care for people affected by rapidly progressive dementias, particularly prion diseases.
Clinical guidelines often feel most reliable when they rest on a large evidence base of high-quality data. Some of the hardest clinical work, however, happens where that evidence does not exist, the condition is rare and decisions still have to be made that day.
Creutzfeldt-Jakob disease (CJD), a prion disease, is one such example. It is rare, fatal and usually rapidly progressive. A family may move within weeks from 'what is this?' to decisions about future care, symptom control, feeding, infection control and where someone should die. Clinicians may need to advise on all of this in a setting where nobody locally has seen CJD before.
For our guideline, 'Multidisciplinary Recommendations for Palliative and Supportive Care in Creutzfeldt-Jakob Disease and Related Disorders', we wanted to do two things: give practical answers for real-world clinical situations and be honest about where the evidence ends and expert judgement begins.
The guideline was developed through a deliberately multidisciplinary panel, which included prion disease doctor and nurse specialists, palliative care doctors, general practitioners, psychiatrists, a neuropsychologist and a lived experience representative. We also invited international specialists in prion diseases to comment, partly to test where UK practice was specific and where the questions were more universal. We looked at the available evidence base and, where it was thin, drew on specialist practice and lived experience rather than pretending the evidence was stronger than it is.
CJD exposes the limits of single-specialty guidance. A neurologist may focus on diagnosis and prognosis. A palliative care clinician may focus on symptom control and future care planning. A speech and language therapist may see the practical and emotional consequences of swallowing impairment. Nurses may understand what it takes to deliver personal care safely and compassionately when someone is rigid, mute or distressed. Families are the only people who see the whole arc.
Multidisciplinary consensus is a way of reducing blind spots and recognises a practical limit of education and awareness-raising. The average GP, ward doctor, care home team or community nurse may come across CJD once, if ever. It is unrealistic to expect detailed knowledge to be retained for a disease many clinicians will never see again. What matters is that they know when to ask for help and that specialist advice is available early enough to shape care.
Specialist input should not sit at the end of the pathway. It needs to be available when decisions are still being made about prognosis, feeding, place of care, infection control, symptom control and support for families. National services and networks therefore do more than provide expert opinion. They help local teams act with confidence in an unfamiliar situation, avoid unhelpful fear about infection risk and bring together care that can otherwise fragment across neurology, palliative care, primary care, community nursing and social care.
Key clinical messages
- Plan early, with palliative care support, because the tempo of CJD is fast.
- Communicate prognosis honestly but acknowledge uncertainty.
- Treat families as partners in care, especially when decisions are needed about place of care, feeding and dying.
- Manage symptoms proportionately, recognising that some behavioural and movement symptoms fluctuate or settle as the disease advances and do not need drug management.
- Involve specialist national prion/CJD services early.
- Do not let fear of routine contact drive care. Use standard precautions for ordinary care and seek expert advice for high-risk procedures.
Although our article focuses on prion disease, the lesson is not confined to CJD. Geriatricians, neurologists and palliative care teams often work with conditions where the evidence is incomplete but the care needs are immediate: rapidly progressive dementias, rare neurodegenerative diseases and complex palliative neurology. The method may be transferable: name the uncertainty, bring different disciplines and lived experience into the same room and produce guidance that can be used at the bedside.
This guideline is not the final word. We need better prognostic models and stronger evidence for managing behavioural, psychiatric, motor and end-of-life symptoms. We also need to know whether the guidance changes practice: does it reduce delay, reassure families and professionals and improve experience? For inherited prion disease in particular, support for families, young people and bereavement remains under-developed. The guideline is a practical response to a rare, frightening and fast-moving illness. When evidence is limited, multidisciplinary consensus will never remove uncertainty, but it can make that uncertainty explicit, share clinical experience and help patients, families and local teams make better decisions in real time.
