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New Ways to Define Multiple Sclerosis Could Change Treatment

define multiple sclerosis

We need new ways to define multiple sclerosis (MS). Since the descriptions established in 1996 have been in use, much research has been done and the recent discoveries could have a significant impact on treatment, diagnosis, and therefore patient care and quality of life.

At the Icahn School of Medicine at Mount Sinai, a team of experts have come together to examine the clinical course descriptions (phenotypes) of MS. Phenotype is the expression of physical characteristics that are determined by an individual’s genes, environmental factors, and genetic variation.

For example, compared with white individuals, African Americans who have MS more often experience symptoms that are limited to the optic nerves and spinal cord. In white people, these traits are believed to have a genetic basis, at least partially.

If you have MS, you may wonder how you can benefit from new definitions of the disease. According to Fred D. Lublin, MD, Director of the Corinne Goldsmith Dickinson Center for Multiple Sclerosis at The Icahn School of Medicine, the new definitions “should make communication with patients and among physicians clearer and should also enhance the design, recruitment and conduct of clinical trials, which will further help us understand the disease.”

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Eighteen years, ago, four standardized definitions of MS were established: relapsing-remitting, secondary progressive, primary progressive, and progressive relapsing. Significant advances in imaging and other diagnostic techniques as well as medications and a better understanding of the disease course make revisions necessary.

Now a 32-member advisory team, which is part of the International Committee on Clinical Trials of MS, has recommended some changes to the existing phenotype definitions. Here are some of the suggestions:

  • Add a fifth phenotype—clinically isolated syndrome—which is recognized as the initial clinical sign of a disease that shows characteristics of inflammatory demyelination, the classic sign of MS
  • Individuals with relapsing MS should undergo a clinical assessment and braining imaging at least once a year
  • Individuals with progressive MS should have an annual clinical assessment but imaging frequency guidelines are less clear. Clinicians may make decisions about progression based on a patient’s history or an objective measure of observed change
  • Part of the description of each phenotype should include disease activity as detected by imaging or clinical relapses as well as the progression of disability. This information can prove useful in determining treatment decisions, prognosis, and clinical trial development

Progress in the prevention, diagnosis, and treatment of MS seems to be painstakingly slow. Retrospectively, however, we can see that much progress has been made. The proposed changes in clinical definitions of MS should allow healthcare providers to make more accurate and informed decisions about patient care.

Cree BAC et al. Modification of multiple sclerosis phenotypes by African ancestry at HLA. Archives of Neurology 2009; 66(2): 226-33
Mount Sinai

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