Misdiagnosis is Common for Creutzfeldt-Jakob Disease

Creutzfeldt Jakob disease is often mistaken for neurodegenerative disorders or dementia.

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) Delayed diagnosis is common in those with Creutzfeldt-Jakob disease (CJD). Understanding the most common CJD misdiagnoses and how often they occur can help doctors more efficiently identify the disease.

A recent study examines the diagnosis and misdiagnosis of sporadic CJD. The study found a significant delay in correct diagnosis with an average of 3.8 misdiagnoses per person and a mean time of 7.9 months to arrive at a correct diagnosis.

"See your doctor if you're experiencing early forgetfulness."

Ross W. Paterson, M.R.C.P., of the University of California, San Francisco and colleagues reviewed records of 97 patients with Creutzfeldt-Jakob disease. The team calculated how long it took to reach proper diagnosis for each patient.

The patients were all between 26 and 62 years of age with 40 females and 57 males. All patients had a proven diagnosis of Creutzfeldt-Jakob disease.

There was a total of 373 misdiagnoses between all patients in the study. This averages to 3.8 misdiagnoses per patient.

Neurodegenerative, autoimmune, infection, toxic/metabolic disorders were the most common categories of misdiagnosis. The most common specific misdiagnoses were viral encephalitis, paraneoplastic disorder, depression, peripheral vertigo and Alzheimer disease.

Misdiagnoses were most commonly made by primary care physicians and neurologists. However, the 18 percent of the study group that was correctly diagnosed the first time were almost always diagnosed by a neurologist.

Neurologists were the first specialist to see the patient 73 percent of the time.

CJD is a fatal and degenerative disorder of the brain. The large mean time to diagnosis of 7.9 month can be very critical as it takes up two-thirds of the average disease course.

Had a correct diagnosis been made earlier, the patient and family may have been able to avoid infection control issues and medical costs. The time spent chasing a diagnosis could also be used to help plan for end of life and provide better patient care.

An early diagnosis would also allow time for the patient to participate in treatment trials. Ongoing trials are looking to treat and ease CJD symptoms as well as search for a cure.

One possible reason for misdiagnosis is because the most accurate form of diagnosis is autopsy.

There is currently a heavy reliance on the existence of elevated levels of 14-3-3 protein in a patient for diagnosis. The results when testing for 14-3-3 in cerebrospinal fluid can be unclear.

In the future, Magnetic Resonance Imaging (MRI) may become a more important and accurate tool for diagnosing CJD. MRI findings of CJD are currently missed two-thirds of the time.

The authors suggest that doctors consider CJD if any of the top categories of misdiagnosis are suspected and the patient displays rapidly progressive dementia.

The authors also suggest the use of an MRI if a patient appears to have any of the most common misdiagnoses but there is not enough evidence to support that diagnosis.

While early diagnosis is important, an editorial by Richard J. Caselli, MD, of the Mayo Clinic Arizona, points out that the first concern for a doctor should be to look for any reversible conditions. This would not include a CJD diagnosis.

Dr. Caselli also points out that repetitive and long term medical testing of cases can be costly.

The key to accurate, affordable and timely diagnosis ultimately depends on CJD diagnostic training for neurologists and physicians.

The study was published by Archives of Neurology, a JAMA Network publication.

The study was funded by National Institute of Aging grants, National Institutes of Health (NIH) National Institute of Neurological Disorder and Stroke contract, the Michael J. Homer Family Fund, NIH National Center for Research Resources grant and the John Douglas French Alzheimre’s Foundation.

Some authors have connections to TauRx Ltd, Bristol-Myers Squibb, Siemens Molecular Imaging, Sagol School of Neuroscience, Tel Aviv University, Allon Theraputics and Cambridge University Press.

Reviewed by: 
Review Date: 
October 5, 2012
Last Updated:
October 9, 2012