HOW TO DO IT

‘Undiagnosing’ neurological disease: how to do it, and when not to Jan A Coebergh,1 Damian R Wren,1 Colin J Mumford2

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Atkinson Morley Wing, St George’s Healthcare NHS Trust, Tooting, London, UK 2 Department of Clinical Neurosciences, Western General Hospital, Edinburgh, UK Correspondence to Dr Jan Coebergh, Department of Neurology, St George’s Hospitals, Blackshaw Road, Tooting SW17 0QT, UK; [email protected] Accepted 1 March 2014

To cite: Coebergh JA, Wren DR, Mumford CJ. Pract Neurol Published Online First: [ please include Day Month Year] doi:10.1136/ practneurol-2013-000796

DIAGNOSIS AND UNDIAGNOSIS Neurologists often pride themselves on their diagnostic skills (figure 1). Indeed, we often assume that having made a firm diagnosis, the flow of initial treatment and longer-term management will follow almost automatically. But with long-term review of patients, neurologists are perhaps better than most at challenging the so-called ‘established diagnoses’; not infrequently they question a previously assigned diagnostic label, or even find it necessary to remove a diagnosis from a patient. Removing a diagnosis lacks a descriptive verb; euphemisms might include ‘maturation of the diagnosis’, ‘diagnostic refinement’ and so on. We suggest that the more robust term ‘undiagnosis’. Stone et al1 have discussed the different degrees of diagnostic shift. Here we address specifically the process of dealing with previous diagnostic errors, imparting a new diagnosis and removing a previous one. The process of ‘undiagnosing’ has not been studied in any detail; some might argue that it does not merit detailed study. Yet, the impact of the removal of a long-held diagnosis—not just on the patient, but also on their family, carers and other health professionals—may be substantial. Some might assume that removing an erroneous diagnosis could only be a positive event for a patient, but our experience suggests otherwise. We have witnessed the creation of considerable distress, anger and frustration in individuals who may have shaped their lifestyle, work pattern and home life according to a neurological label attached in years gone by. Advances in diagnostic techniques seem likely to increase the need for neurological undiagnosis. Experienced practitioners will recognise the scenario of the patient with presumed Parkinson’s disease whose dopamine transporter scan remains steadfastly normal, or the patient

Coebergh JA, et al. Pract Neurol 2014;0:1–4. doi:10.1136/practneurol-2013-000796

whose diagnosis of multiple sclerosis stretches back over several decades but whose first MRI scan is pristine in its normality. Future undiagnoses will undoubtedly follow improved understanding and recognition of the genetic basis of some diseases, better vigilance for functional neurological disease, and increasing patient demand for re-evaluation and second opinion. In the few available studies, neurologists express considerable disquiet regarding undiagnosis. A 2012 study showed that two-thirds of North American neurologists with expertise in multiple sclerosis found removing the diagnosis more challenging than giving it.2 Furthermore, 95% of those neurologists surveyed had seen at least one patient in the previous year where they considered the diagnosis of multiple sclerosis to be wrong; one in four of these were taking diseasemodifying therapies, often at considerable expense. Interestingly, most—though not all—doctors in this study stated that they would undiagnose those with an incorrect diagnosis; the remainder preferred to allow the erroneous diagnosis to remain in place. WHEN, WHY AND HOW TO UNDIAGNOSE? There are clear benefits to removing an incorrect diagnosis: opening the potential for an entirely new treatment strategy, withdrawing potentially harmful medication, and cost saving to the patient and healthcare provider. But the process requires sensitivity to prevent unintentional harm to a patient whose life may have been profoundly influenced by the diagnosis. Not all patients welcome such dramatic news. Undiagnosis is probably easiest when there are unequivocal investigations to rule out the previously established diagnosis, and in situations where its removal will clearly benefit the patient. It is much

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HOW TO DO IT ▸ An invitation for other family members to accompany the patient on the next visit, anticipating their inevitable concern. ▸ An explanatory letter to the patient, which he or she can show to others, to support your verbal explanation. ▸ Ideally, an early telephone conversation with the patient’s general practitioner to highlight the change in diagnosis. ▸ If appropriate, the offer of a second opinion from a different neurologist.

Figure 1 Undiagnosing sometimes requires the skills of Sherlock Holmes.

harder if the clinical syndrome manifests purely as symptoms. It would, for example, be difficult to remove a label of ‘whiplash’ from a patient with ongoing neck discomfort following a road accident. The process of undiagnosing is inevitably sensitive. It may easier if the wrong diagnosis was assigned comparatively recently, and especially if the diagnosis were postulated in advance of crucial investigation results. It may also run comparatively smoothly if the neurologist is the first specialist to assess the patient, with the mistaken diagnostic label assigned by a generalist without specific expertise. Similarly, seniority may make easy the process: for example, a consultant may readily be able to explain why a trainee’s diagnostic label was incorrect. But even this requires careful explanation, since few patients understand the rank structure of hospital practice. A grey-haired and balding registrar may—to the patient—carry more gravitas than a youthful consultant. Our impression is that undiagnosis requires as much time, care and sympathy as does the breaking of bad news. We suggest several stages: ▸ An explanation that the existing diagnosis is in doubt. ▸ A clear review of the history, examination findings and investigations results up to this point. ▸ An explanation of why previous doctors may have arrived at the wrong conclusion, often including the advantages of hindsight and the passage of time. ▸ An indication as to what has changed to question the diagnosis. ▸ If appropriate, an explanation why you, in contrast to previous doctors, are better placed to get the diagnosis right. ▸ A statement about whether new investigations might help to confirm your impression. ▸ A detailed outline of the new diagnosis, with exploration of the potential impact of the change in diagnosis. ▸ An offer of further support, often as outpatient review by you or by specialist nurses to address any further questions.

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One point is crucial: the new diagnosis should be clear and robust. If changing from one neurological condition to another, then the new condition can be explained and discussed; for example, how the symptoms of a migraine aura differ from those of a transient ischaemic attack. There may be a change from an ‘organic’ to a functional diagnosis: this requires considerable time, including an explanation of what that means, and the required change in management strategy. Remember that any diagnosis of a functional neurological disease should be a positive one, ideally supported by clear physical signs; it is best not to present it as a diagnosis of exclusion.3 We would advise against removing one diagnosis and replacing it with ‘medically unexplained symptoms’, which might mean something specific to the neurologist, but to the patient it may suggest that the doctor does not know the cause, despite having no plan for further investigations. We agree with other commentators that the phrase ‘medically unexplained symptoms’ has no place in neurological practice.4 IS IT EVER WRONG TO UNDIAGNOSE? For some patients, a change in diagnosis may be threatening. There may be a profound impact on their relationships with other members of their family, on their work and financial well-being; for example, for those receiving disability living allowance or having relatives receiving a carer’s allowance. Rarely, it may be more reasonable simply to ‘ease gently back’ from the diagnosis, for example, by advising stopping diseasemodifying drugs to a patient with an incorrect diagnosis of multiple sclerosis or by stopping an unnecessary antiplatelet agent. Equally, undiagnosis sometimes offers negligible benefit, for example, when a diagnosis of transient ischaemic attack—acquired many years before—is changed to migraine, but the patient already requires an antiplatelet agent, a statin and an antihypertensive drug, for another medical indication.

ILLUSTRATIVE CASES 1. An 80-year-old man had been diagnosed in his late 50s with both Parkinson’s disease and multiple sclerosis. He had used a wheelchair since that time, but with no hospital contact since the early 1980s. He was admitted to hospital with unilateral facial weakness—thought to be a

Coebergh JA, et al. Pract Neurol 2014;0:1–4. doi:10.1136/practneurol-2013-000796

HOW TO DO IT stroke by paramedics—but with normal cranial imaging. Neurological assessment showed the leg weakness was functional. This was explained to him and his family, interestingly providing some relief to his wife who reported that she had once seen him walk during the night, but assumed she had been mistaken and ‘must be going mad’. His children had understandable difficulty in accepting that the man whom they had known for so long in a wheelchair could, in fact, walk. With skilled input, he began walking within days of ‘undiagnosis’. He formed the view that it was his recent stroke that had restored his ability to walk, an assumption the neurological team did not contradict. He has retained the ability to walk since then. 2. A 61-year-old man with a previous diagnosis of Parkinson’s disease had seen a neurologist at the time of initial diagnosis 8 years previously, with subsequent follow-up under the care of two different geriatricians. He was referred for further neurological input. During re-evaluation, we noted that he had only a functional tremor. A dopamine transporter scan was normal. He was taking a dopamine agonist: although we advised and attempted its withdrawal, he reported feeling worse without his medication, and refused to stop it completely. A neuropsychiatrist advised him on the management of his coexisting anxiety and depression. However, he felt generally less well after losing the diagnosis of Parkinson’s disease, and has since sought further medical opinions for subjective memory impairment. 3. A 45-year-old woman presented with a generalised seizure and a short history of mild intermittent headaches. Imaging showed a temporal lobe lesion of indeterminate origin. The neuroradiologists suspected a malignant lesion and we told the patient that it was probably a glioma. Only after revisiting the history—the symptoms emerged after a long haul flight a few weeks previously—and subsequent MR spectroscopy did it become clear that the original lesion was most likely a venous infarction secondary to a cortical vein thrombosis (figure 2A,B). She was predictably relieved to learn of the new benign diagnosis. 4. A 45-year-old man who worked as healthcare assistant on a stroke ward in a nursing home presented with recurrent episodes of difficulty speaking and inability to move his right arm and leg, each lasting several hours. On one occasion, he had received intravenous thrombolytic therapy for a presumed ischaemic stroke; a consultant in stroke medicine made and conveyed the diagnosis of stroke. However, on neurological assessment, these episodes were clearly functional. During one episode, he had a normal MR scan of brain. Despite several attempts to explain the functional diagnosis, he did not accept this. Furthermore, the stroke team was also reluctant to recognise a possible wrong initial diagnosis. In line with his request, his general practitioner maintained his longterm antiplatelet agent and a statin, even though he had no vascular risk factors.

Coebergh JA, et al. Pract Neurol 2014;0:1–4. doi:10.1136/practneurol-2013-000796

Figure 2 (A and B) MR scan of brain showing a presumed glioma that was a venous infarction.

DISCUSSION Undiagnosis is not uncommon in neurological practice. The process requires considerable skill, and inevitably threatens the doctor–patient relationship. We have focused on undiagnosing individuals for whom the incorrect diagnosis has been made by other medical practitioners. Neurologists may find it easier —or conversely perhaps more difficult—to remove a diagnosis that they themselves had made some years previously. One of us ( JAC) frequently tells patients that diagnoses such as early Parkinson’s disease can initially be very difficult to make for certain, and stresses the benefits of the passage of time as a diagnostic tool. In our experience, many neurologists use a similarly guarded approach, especially when first

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HOW TO DO IT

Figure 3

Normal dopamine transporter scan.

suggesting the diagnosis of a serious long-term condition for which the key examination findings and investigation results may reveal themselves only much later. We are uneasy about diagnostic labels for conditions such as atypical parkinsonism, motor neurone disease, Alzheimer’s disease and frontotemporal dementia, which include terms such as ‘probable’ and ‘possible’. While we recognise that these words open the possibility that the diagnostic label may need to be removed in the future, we would urge practitioners to give careful explanations for the reasons for using these terms of uncertainty, since diagnostic imprecision may not be easily appreciated by patients. However, provided that an open and clear explanation for the uncertainty is given, patients are often very willing to accept this honest approach (figure 3). Past generations of neurologists made neurological diagnoses without the benefit of modern diagnostic techniques. Frequently they were provisional diagnoses, but were inadequately re-evaluated and, in some

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cases, were given to patients in euphemism rather than plain language. Functional disorders were poorly understood, and doctors were reluctant to make firm diagnoses of ‘non-organic’ disease.5 In some centres, this led to a policy of prolonged ‘follow-up to await events’, and terms such as ‘a touch of multiple sclerosis’ were applied to isolated vague sensory symptoms. It was then all too common for these provisional diagnoses to become ‘definite’ in the eyes of the patient or their family doctor. A new specialist taking over from his or her predecessor might then use modern techniques to re-evaluate the diagnoses, sometimes without regard for the potential impact of completely negative results, and the resulting requirement for undiagnosis. This was an issue experienced by one of us (DRW) at the start of his consultant career. In summary, the process of undiagnosis needs careful thought. We suggest that it should be approached with the same level of tact and sensitivity that a clinician would use when breaking bad news. It is a challenging but important part of daily neurological practice. Funding None. Competing interests None. Patient consent Obtained. Provenance and peer review Not commissioned; externally peer reviewed. This paper was reviewed by Andrew Chancellor, Tauranga, New Zealand.

REFERENCES 1 Stone J, Reuber M, Carson A. Functional symptoms in neurology: mimics and chameleons. Pract Neurol 2013;13:104–13. 2 Solomon AJ, Klein EP, Bourdette D. ‘Undiagnosing’ multiple sclerosis: the challenge of misdiagnosis in MS. Neurology 2012;78:1986–91. 3 Stone J, Edwards M. Trick or treat? Showing patients with functional ( psychogenic) motor symptoms their physical signs. Neurology 2012;79:282–4. 4 Goldsmith P. We MUST not call it MUS. Pract Neurol 2012;12:27. 5 Slater ET. Diagnosis of ‘hysteria’. BMJ 1965;1:1395–9.

Coebergh JA, et al. Pract Neurol 2014;0:1–4. doi:10.1136/practneurol-2013-000796

'Undiagnosing' neurological disease: how to do it, and when not to.

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