Clinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: a case report

Stephen J Wroe, Suvankar Pal, Durrenajaf Siddique, Harpreet Hyare, Rebecca Macfarlane, Susan Joiner, Jacqueline M Linehan, Sebastian Brandner, Jonathan D F Wadsworth, Patricia Hewitt, John Collinge

Research output: Contribution to journalArticlepeer-review

Abstract

BACKGROUND: Concerns have been raised that variant Creutzfeldt-Jakob disease (vCJD) might be transmissible by blood transfusion. Two cases of prion infection in a group of known recipients of transfusion from donors who subsequently developed vCJD were identified post-mortem and reported in 2004. Another patient from this at-risk group developed neurological signs and was referred to the National Prion Clinic.

METHODS: The patient was admitted for investigation and details of blood transfusion history were obtained from the National Blood Service and Health Protection Agency; after diagnosis of vCJD, the patient was enrolled into the MRC PRION-1 trial. When the patient died, brain and tonsil tissue were obtained at autopsy and assessed for the presence of disease-related PrP by immunoblotting and immunohistochemistry.

FINDINGS: A clinical diagnosis of probable vCJD was made; tonsil biopsy was not done. The patient received experimental therapy with quinacrine, but deteriorated and died after a clinical course typical of vCJD. Autopsy confirmed the diagnosis and showed prion infection of the tonsils.

INTERPRETATION: This case of transfusion-associated vCJD infection, identified ante-mortem, is the third instance from a group of 23 known recipients who survived at least 5 years after receiving a transfusion from donors who subsequently developed vCJD. The risk to the remaining recipients of such transfusions is probably high, and these patients should be offered specialist follow-up and investigation. Tonsil biopsy will allow early and pre-symptomatic diagnosis in other iatrogenically exposed individuals at high risk, as in those with primary infection with bovine spongiform encephalopathy prions.

Original languageEnglish
Pages (from-to)2061-7
Number of pages7
JournalThe Lancet
Volume368
Issue number9552
DOIs
Publication statusPublished - 9 Dec 2006

Keywords

  • Adult
  • Blood Transfusion
  • Brain
  • Creutzfeldt-Jakob Syndrome
  • Fatal Outcome
  • Humans
  • Male
  • Middle Aged
  • Palatine Tonsil
  • Prions

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