June 1, 2012 (San Diego, California) — Misdiagnosis of multiple sclerosis (MS) is becoming an increasingly recognized problem in the field, one expert says.

Misdiagnosis is, "under-recognized, under-appreciated, and under-studied," said Brian G. Weinshenker, MD, from the Department of Neurology at Mayo Clinic College of Medicine in Rochester, Minnesota. "Unless we are 80% certain of the diagnosis, we should not offer disease-modifying treatments," he said.

Dr. Weinshenker's remarks came during an opening lecture delivered here at the 26th Annual Meeting of the Consortium of Multiple Sclerosis Centers and the 4th Cooperative Meeting with ACTRIMS.

For decades, the diagnosis of MS has depended on demonstration of central nervous system (CNS) lesions typical of the disease that are disseminated in time and space, he points out. The ways in which this dissemination can be demonstrated have recently been liberalized to facilitate early institution of disease-modifying therapy, Dr. Weinshenker said.

Making this early detection possible is the power of magnetic resonance imaging (MRI), which can be used to predict whether patients will ultimately satisfy the more conservative criteria for MS, he notes. However, the hazard of liberalizing the diagnosis has been overdiagnosis, an increasingly recognized problem.

It is becoming apparent that dissemination in space (DIS) and dissemination in time (DIT) are "neither necessary nor sufficient" for a diagnosis of CNS demyelinating disease, Dr. Weinshenker said.

"Diagnosis of MS is more than counting," he said. "DIS and DIT belong at the bottom of diagnosis."

For example, neuromyelitis optica, a relapsing idiopathic inflammatory demyelinating disease that is clearly different from prototypic MS, would nevertheless satisfy MS criteria. Progressive myelopathy associated with solitary lesions, typically in the cervicomedullary junction, has been convincingly shown to be due to demyelinating disease.

A New Paradigm

Dr. Weinshenker advocates a new paradigm for evaluation of patients that emphasizes qualitative rather than quantitative bases for diagnosis, particularly for complex patients with atypical presentations or imaging.

In 2008, an international panel of MS experts, including Dr. Weinshenker, published a consensus statement on the differential diagnosis of MS, incorporating "red flags" that can point away from a diagnosis of MS, among them loss of hearing, bone lesions, ataxia, and laboratory values showing low copper.

"Rarely do patients tell you of these red flags," he said. "You need to be aware of them and search for them."

Because "diffuse" white matter disease can occur in MS, "I would argue that the biopsy can be quite informative in differentiating diagnosis," Dr. Weinshenker said.

This extra effort can take many difficult cases out of the MS category. It can also lead to the identification of new diseases, such as the recently described CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids).

"CLIPPERS has been out there for decades or centuries," he said. "But until we shine a light on it, you don't recognize it."

Moving forward, Dr. Weinshenker advises physicians to be aware of patterns, keep track of difficult cases, network with colleagues, and keep up with the literature using the power of the Internet.

"Pursuing this path will keep practicing neurologists on their toes," he noted in his remarks. "It has and will continue to facilitate discovery of new diseases with distinctive clinical features, neuroimaging, prognosis, and response to therapy."

Dr. Weinshenker reports that he has received royalties from RSR Ltd., has intellectual property/patents with RSR Ltd., and has received consulting fees from Asahi Kasei Kuraray Medical Company, Elan Pharmaceuticals, and Biogen Idec.

26th Annual Meeting of the Consortium of Multiple Sclerosis Centers and 4th Cooperative Meeting with ACTRIMS. Opening Lecture: "Insights into the Diagnosis of MS: More than Dissemination in Space and Time." Presented May 31, 2012.


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