Diagnostic evaluation for Creutzfeldt-Jakob disease in Massachusetts, 1991-2001.

Background: Surveillance for Creutzfeldt-Jakob disease (CJD) in the United States has become a focus of public health attention due to concerns about disease acquired through exposure to transmissible spongiform encephalopathy in other species. A definitive diagnosis requires neuropathologic examination, yet concerns about the invasiveness of procedures and infection control may be barriers to brain biopsy or autopsy in patients with suspected CJD.

Methods: We reviewed medical records of 50 of the 97 patients identified through the Massachusetts Department of Public Health CJD surveillance system for 1991-2001 and of an additional 21 patients in whom CJD was suspected but later ruled out.

Results: Of the 50 patients, brain biopsy was performed on 14 (28%), brain biopsy or autopsy was performed on 27 (54%), and brain biopsy and autopsy were performed on 4 (8%). Brain biopsy or autopsy was declined for an additional 7 patients (14%) by family or health care proxy. The proportion of patients on whom brain biopsy was performed was inversely correlated with age, with only 9 (21%) of the 43 patients >60 years old having brain tissue diagnosis. Brain biopsy was performed on patients in whom CJD was suspected but ruled out somewhat less often than it was for patients with confirmed CJD (4 [19%] of 21 patients vs. 7 [23%] of 30 patients, respectively; P=.71).

Conclusion: The majority of patients with CJD-related death whose medical records were available had a brain biopsy or autopsy performed or requested (34 [68%] of 50 patients).