Creutzfeldt-Jakob Brain Disease Misdiagnosis Common: Study

Less than one-in-five people who suffer from Creutzfeldt-Jakob disease (CJD), often known as the human form of mad cow disease, are correctly diagnosed by their physician the first time they seek medical treatment, according to the findings of new research. 

In a study published on-line last month in the Archives of Neurology, researchers indicate that misdiagnosis is very common for the incurable brain disease, which often results in death within a year of symptoms first appearing.

The pain, uncertainty and fear families feel when someone has been diagnosed with Creutzfeldt-Jakob disease is only heightened by the failure to properly diagnose the problem the first time, researchers found.

Despite the fact that the disease is fatal, correct diagnosis after symptoms surface can prevent months of medical tests, incorrect and useless treatments, as well as false hope.

Researchers indicate that it often takes up to eight months to get a correct diagnosis for Creutzfeldt-Jakob disease, leaving little time to prepare for the person’s passing.

There are about 200 cases of Creutzfeldt-Jakob disease each year in the United States. Researchers looked at 97 of those cases and found that only in 18% was the correct diagnosis given the first time. Misdiagnosis of Creutzfeldt-Jakob disease often occurs with a primary care physician, the researchers found.

Creutzfeldt-Jakob disease is a degenerative neurological disorder that is similar to bovine spongiform encephalopathy, often known as mad cow disease, although the two are actually usually unrelated. However, mad cow disease can cause a form of Creutzfeldt-Jakob disease in humans. It is caused by an infectious protein known as a prion that creates holes in brain tissue.

It can be caused by coming into contact with contaminated human brain products like immunoglobins, but it can also be the result of genetics and in some cases appears to occur spontaneously.

The misdiagnoses often are the result of a number of similar, treatable, conditions, which doctors hope are the actual problem, because they can be fixed with a chance of patient survival, according to an editorial that accompanied the research. It also does not help that the initial symptoms are the same as many other, treatable neurological disorders.

The researchers suggested the inclusion of certain tests when a Creutzfeldt-Jakob disease diagnosis may be a possibility, including diffuse brain magnetic resonance imaging (MRI). The researchers also suggested that primary care physicians and neurologists receive improved training on recognizing CJD.