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Diagnosing variant Creutzfeldt–Jakob disease: a retrospective analysis of the first 150 cases in the UK
  1. C A Heath1,
  2. S A Cooper2,
  3. K Murray1,
  4. A Lowman3,
  5. C Henry4,
  6. M A MacLeod5,
  7. G Stewart1,
  8. M Zeidler6,
  9. J M McKenzie7,
  10. R S G Knight7,
  11. R G Will7
  1. 1Western General Hospital, Edinburgh, UK
  2. 2Southern General Hospital, Glasgow, UK
  3. 3University Hospital, Cardiff, UK
  4. 4Mercy University Hospital, Cork, Ireland
  5. 5Aberdeen Royal Infirmary, Aberdeen, UK
  6. 6Victoria Hospital, Kirkcaldy, UK
  7. 7National CJD Surveillance Unit, Edinburgh, UK
  1. Correspondence to Professor R G Will, National CJD Surveillance Unit, Bryan Matthews Building, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK; r.g.will{at}ed.ac.uk

Abstract

Introduction Establishing an early clinical diagnosis in variant Creutzfeldt–Jakob disease (vCJD) can be difficult, resulting in extended periods of uncertainty for many families and sometimes a view that patients have been subjected to unnecessary investigations. This issue is accentuated by the progressive nature of vCJD and by the difficulty in achieving a confident clinical diagnosis before an advanced stage of illness. Although diagnostic delay may be a result of the non-specific early clinical features, a systematic analysis of the process of diagnosis was undertaken, with the aim of trying to achieve earlier diagnosis of vCJD.

Methods Retrospective case file analysis was undertaken of the first 150 definite and clinically probable cases of vCJD identified by the UK surveillance system.

Results There is a significant interval between illness onset and presentation to a primary care physician, which is influenced by the nature of the initial clinical features. Neurological review is invariably sought following the development of clinical signs and a diagnosis is then established relatively quickly. Despite the progressive clinical course, a confident clinical diagnosis is not usually achieved until a relatively advanced stage of illness (mean time to diagnosis 10.5 months) with a more rapid clinical progression accounting for those cases diagnosed earlier after symptom onset.

Conclusions Early clinical diagnosis in vCJD is not possible in the great majority of cases because of non-specific initial symptoms. Once neurological signs develop, a diagnosis is usually made promptly but this is often at a relatively advanced stage of illness. The inherent delays in the diagnosis of vCJD have implications for those involved in both public health and therapeutics.

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Footnotes

  • Funding The National CJD Surveillance Unit is funded by the Department of Health and the Scottish government.

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the Lothian Ethics Committee.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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