Information sourced from NEJM Journal Watch:
Multiple Sclerosis Misdiagnosis: Current Trends
A multicenter study identifies patterns of misdiagnosed cases.
The diagnosis of multiple sclerosis (MS) is clinical and relies on expert neurological evaluation, accurate interpretation of magnetic resonance imaging (MRI) findings, and targeted exclusion of other potential causes. Now, four academic MS centers provide pooled data on MS misdiagnosis, defined as a firm diagnosis of MS from another physician for a patient subsequently given an alternate revised diagnosis (presumed to be correct) after evaluation in an MS specialty center.
Of 110 patients misdiagnosed with MS, 70% had received MS immunomodulatory therapy and 4% had enrolled in MS clinical treatment trials. One quarter of MS misdiagnoses were made by neurologists with MS-focused practices. The most common alternate diagnoses were migraine (22%), fibromyalgia (15%), nonspecific or nonlocalizing neurological symptoms with abnormal MRI (12%), conversion or psychogenic disorder (11%) and neuromyelitis optica spectrum disorder (6%). Identified causes of MS misdiagnosis included misinterpretation of clinical events as consistent with MS relapse, lack of objective evidence of demyelinating events, misinterpretation of MRI findings, and misapplication of MS diagnostic criteria. Of the 67% of misdiagnosed patients who underwent cerebrospinal fluid (CSF) examination (not a required element of relapsing-remitting MS diagnostic criteria), 54% did not have oligoclonal bands or an elevated immunoglobulin G index. Among patients with a CSF exam, 11% had oligoclonal band lab results misinterpreted as being positive when bands were in fact matched in serum and CSF.
Accurate diagnosis of MS relies on clinical acumen and attention to detail. Although this study was not designed to provide an exhaustive accounting of all MS misdiagnoses, it is valuable in highlighting preventable patterns of MS diagnostic error. As the authors note, a big challenge is that, like MS, many alternate diagnoses lack specific biomarkers and rely on clinical judgment and expertise. The results also raise the question of whether CSF findings should carry more weight in MS diagnostic criteria. Evaluation in an MS specialty center is an option to insure the accuracy of MS diagnosis.
Jeffrey M. Gelfand, MD reviewing Solomon AJ et al. Neurology 2016 Sep 27.
Dr. Gelfand is Assistant Professor of Clinical Neurology, MS Center, University of California, San Francisco.
Solomon AJ et al. The contemporary spectrum of multiple sclerosis misdiagnosis: A multicenter study. Neurology 2016 Sep 27; 87:1393.
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