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CJD
A guide for GPs
What do I do if I suspect a patient has CJD?
GPs are likely to be the first professional point of contact for those who may have CJD, but you will not be expected to make the diagnosis.The unusual combination of neurological and psychiatric problems can make diagnosis difficult and you should refer a patient to a neurologist if you think that they may have CJD.
It is impossible to be prescriptive about the circumstances under which such referral is appropriate, but any progressive neurological disease or a psychological disorder with an atypical clinical picture involving neurological signs will alert you to the need for a specialist opinion. It is highly unlikely that CJD will eventually be diagnosed – there are tens of more common conditions with some similar signs and symptoms.
The detailed companion booklet to this (CJD: A guide for patients and patients, Brain and Spine Foundation 2002) describes the symptoms of the various forms of CJD and the clinical information and investigations which specialists use to make a diagnosis.
An absolutely definite diagnosis can only be made during life if a brain biopsy is undertaken. More usually, diagnosis is confirmed by a post-mortem brain examination following a combination of clinical information and investigations during life. These include most commonly MRI, EEG and lumbar puncture, which allow other conditions to be excluded and a reasonably confident diagnosis made without the need for invasive tests such as brain biopsy. Genetic testing should also be done in all cases where patients and families agree, to confirm or exclude familial links.
If the diagnosis of CJD is made, doctors are requested to inform the National CJD Surveillance Unit in Edinburgh (see Further advice and information) and a keyworker (from health or social services) should be allocated to the family. Ideally chosen in consultation with them, the keyworker will be responsible for coordinating a plethora of services into a suitable care package.These include nurses, occupational, speech and physiotherapists, dietitians, specialist incontinence advisors and palliative and terminal care teams.
The neurologist may also refer the patient to the National Prion Clinic in London, which is a centre of expertise in all forms of CJD.
The National CJD Care Team, also based in Edinburgh, offers valuable support in setting up the care package, especially where there are gaps in local services. In recognition of the role played by social workers in the care of those with CJD, the Association of Directors of Social Services has, in conjunction with the CJD Support Network published good practice guidelines, which are available from the Network.
In our survey, carers said they wanted more practical advice from their GPs about what benefits were available and where to get support and advocacy.The companion booklet summarises what is available, and the CJD Support Network can also provide information on these areas.There is also a government compensation scheme for those with vCJD, co-ordinated by the vCJD Trust (see Further advice and information).
Carers also wanted to know more about the impact of the illness on the rest of the family and to have the chance for more open and informative dialogue with their GPs.
No single professional can resolve all issues, and you will not be expected to, but it is important that you can guide people to the relevant agencies or individuals who can help them. Hopefully this leaflet and the companion booklet will give you sufficient information to feel confident to discuss this distressing subject with families during the various stages of the
investigative and diagnostic process.
The detailed companion booklet to this (CJD: A guide for patients and patients, Brain and Spine Foundation 2002) describes the symptoms of the various forms of CJD and the clinical information and investigations which specialists use to make a diagnosis.
An absolutely definite diagnosis can only be made during life if a brain biopsy is undertaken. More usually, diagnosis is confirmed by a post-mortem brain examination following a combination of clinical information and investigations during life. These include most commonly MRI, EEG and lumbar puncture, which allow other conditions to be excluded and a reasonably confident diagnosis made without the need for invasive tests such as brain biopsy. Genetic testing should also be done in all cases where patients and families agree, to confirm or exclude familial links.
If the diagnosis of CJD is made, doctors are requested to inform the National CJD Surveillance Unit in Edinburgh (see Further advice and information) and a keyworker (from health or social services) should be allocated to the family. Ideally chosen in consultation with them, the keyworker will be responsible for coordinating a plethora of services into a suitable care package.These include nurses, occupational, speech and physiotherapists, dietitians, specialist incontinence advisors and palliative and terminal care teams.
The neurologist may also refer the patient to the National Prion Clinic in London, which is a centre of expertise in all forms of CJD.
The National CJD Care Team, also based in Edinburgh, offers valuable support in setting up the care package, especially where there are gaps in local services. In recognition of the role played by social workers in the care of those with CJD, the Association of Directors of Social Services has, in conjunction with the CJD Support Network published good practice guidelines, which are available from the Network.
In our survey, carers said they wanted more practical advice from their GPs about what benefits were available and where to get support and advocacy.The companion booklet summarises what is available, and the CJD Support Network can also provide information on these areas.There is also a government compensation scheme for those with vCJD, co-ordinated by the vCJD Trust (see Further advice and information).
Carers also wanted to know more about the impact of the illness on the rest of the family and to have the chance for more open and informative dialogue with their GPs.
No single professional can resolve all issues, and you will not be expected to, but it is important that you can guide people to the relevant agencies or individuals who can help them. Hopefully this leaflet and the companion booklet will give you sufficient information to feel confident to discuss this distressing subject with families during the various stages of the
investigative and diagnostic process.
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Page 4 of 5
Contents
- Introduction
- What is CJD?
- What are the different types of CJD?
- What do I do if I suspect a patient has CJD?
- Further advice and information
