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

TitleClinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: a case report.
Publication TypeJournal Article
Year of Publication2006
AuthorsWroe SJ, Pal S, Siddique D, Hyare H, Macfarlane R, Joiner S, Linehan JM, Brandner S, Wadsworth JD, Hewitt P, Collinge J
JournalLancet (London, England)// // Lancet
Pagination2061 - 7
Date Published2006//
ISBN Number1474-547X
Other Numbers2985213r, l0s, 0053266
Keywords*Blood Transfusion/ae [Adverse Effects], *Brain/pa [Pathology], *Creutzfeldt-Jakob Syndrome/pp [Physiopathology], *Palatine Tonsil/pa [Pathology], Adult, Creutzfeldt-Jakob Syndrome/di [Diagnosis], Creutzfeldt-Jakob Syndrome/tm [Transmission], Fatal Outcome, Humans, Male, Middle Aged, Prions/ge [Genetics]

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.

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