CJD presents major diagnostic problems

Sep 27 2012

By Eleanor McDermid, Senior medwireNews Reporter

Most patients with sporadic Creutzfeldt-Jakob disease (sCJD) are initially misdiagnosed, with most not receiving a correct diagnosis until they are two-thirds of the way through their disease course, show findings in the Archives of Neurology.

Editorialist Richard Caselli (Mayo Clinic Arizona, Scottsdale, USA) commends the researchers "for highlighting this important but sometimes underappreciated dimension of neurologic practice."

The study, by Michael Geschwind (University of California, San Francisco, USA) and colleagues, included records for 97 patients with pathologically confirmed sCJD. This diagnosis was first raised as a possibility an average of 6.7 months after patients' first symptoms appeared and became the likely diagnosis after an average of 7.9 months.

Patients survived for an average of 12 months after their first symptoms appeared, so were not diagnosed until an average of 67.7% into their disease course. In the meantime, they received an average of 3.8 incorrect diagnoses.

"In the year of life left to them, patients spend nearly 8 months undergoing various forms of evaluation and treatment," comments Caselli. He highlights the "added physical and emotional toll that any incorrect diagnosis invariably takes on families, especially when confronted with such a serious illness."

Common misdiagnoses included viral encephalitis, paraneoplastic disorder, depression, vertigo, Alzheimer's disease, stroke, and unspecified dementia. Most - 73% - patients were initially referred to a neurologist, and 42% of the neurologists made an incorrect diagnosis. However, of the 17 patients who received an initial correct diagnosis, 16 received it from a neurologist.

Such delays and misdiagnoses are understandable, says Caselli, "because the initial symptoms of the patient may have been nonspecific or may have suggested a more common and less lethal alternative diagnosis." But he notes that delays postpone appropriate treatment, saying that "CJD is a challenging management problem, which is all the more reason why professional palliative care should be sought."

And Caselli also highlights the reverse scenario, in which CJD is diagnosed when the patient in fact has a potentially reversible condition.

"As we attempt to rein in health care costs while sacrificing no degree of medical accuracy or compassion, we owe it to our patients and to society to have the necessary knowledge to consider the diagnosis, establish the diagnosis as efficiently as possible, and then work with patients, families, and palliative care providers to maximize the quality of life for our dying patients," he concludes.

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