© 2017, GENASSISTTM Inc.

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Background: Multiple Sclerosis (MS) has been divided into 4 types depending on the impact of the disease over time:

  • Relapsing Remitting MS (RRMS) – most common type. The disease typically involves flare-ups (relapses) and remissions.
  • Secondary Progressive MS (SPMS) – symptoms progress over time with or without relapse or remission.
  • Primary Progressive MS (PPMS) – less common. Symptoms worsen continuously without relapses or remissions.
  • Progressive Relapsing MS (PRMS) – also rare. Progression of the disease with relapses but no remissions.

Multiple Sclerosis (MS) is an acquired disease which is usually chronic and progressive and results in progressive damage to myelin resulting in damage to the central nervous system. The musculoskeletal, sensory systems can be affected and in some patients the cognitive system is involved.

The peak age of onset is 20-40 years of age and more females than males are affected.

The incidence of the disease varies geographically. The risk to relatives is slightly increased over the general population risk (2-5% for 1st degree relatives) and decreases as the degree of relationship to the affected individual decreases.

Beta interferon, anti-inflammatory drugs and steroids have been used. Vitamins, cooling techniques, ACTH, plasmaphoresis and glatiramer acetate (copaxone) have been used particularly for chronic relapsing disease. The risk for developing the disease is approximately 1 in 750.

Analysis: Colorado has one of the highest prevalence rates of Multiple Sclerosis (MS) quoted as perhaps 1 in 550 individuals but is Not the highest in the United States. The prevalence appears to be the highest in the northern U.S. e.g. Washington, Minnesota and Vermont, next – Montana, Wyoming and Idaho and then – Colorado, Nebraska, Massachusetts and Rhode Island.

The causes of MS are not known although environmental influences e.g. less sunlight, viruses, toxic effects which interact with immunologic and possible genetic susceptibility have been implicated.

Many diseases present with similar symptoms suggestive of MS and the National Multiple Sclerosis Society uses the pneumonic VITAMINS to describe at least 25 disorders which can be difficult to distinguish from MS.

Increased risk is seen in women smokers, individuals with other auto-immune disease, Caucasians, certain viruses (e.g. Epstein Barr) and patients with a positive family history.

Diagnosis: The diagnosis of MS is often delayed because of the variable presentation of the disease. Early diagnosis is encouraged since intervention may slow the progression of neurological deterioration, disability and episodes of relapse.

Dr. Ian McDonald advanced criteria in 2001 at an international meeting of experts which were subsequently revised in 2005 and again in 2010 to help aid in the diagnosis and early intervention of MS.

With diagnosis often delayed until multiple attacks (usually 20 or more), the McDonald criteria attempts to assist earlier diagnosis even after a single attack.

Diagnosis is made with a combination of clinical, imaging and neurological evaluations (evoked potentials). In addition to McDonald’s criteria, Magnetic Resonance Imaging (MRI) of the brain and spinal cord has become the imaging study of choice.

Most patients will have had several “attacks” defined as being at least 30 days apart and lasting at least 24 hours before additional testing will be recommended and MS suggested as the diagnosis.

Computed Tomography (CT), Visual Evoked Potenials (VEP’s), Somatosensory Evokes Potentials (SSEP’s), Brainstem Auditory Evoked Potentials (BHEP’s), angiography, electroencephalograph (EEG), lumber puncture for evaluation of cerebrospinal fluid for oligoclonal bands (OCB’s) and Immunoglobulin G (IgG) are still used for individual patients but are no longer routine for most patients. Ultrasound is Not usually used for diagnosis of MS.

Treatment: Multiple medications are available for treatment for MS with the goals of decreasing relapses, slowing progression of disease and ameliorating some symptoms.

Intravenous, injectable medications given under the skin or intramuscularly and oral medications are available.

Several different classes of drugs are available. The exact mechanism of action of these drugs are not completely known but are directed at the immune response e.g. steroids, beta interferon (Avonex, Rebif, Betaseron, Copaxone). Novantrone is a chemotherapy drug which has been used for treating lymphoma and leukemia and seems to slow the progression of MS and disability. It is usually used for only 2-3 years because of possible cardiac toxicity.

Less common approaches include Botulinum Toxin or Baclofen for spasticity, deep brain stimulation for tremors, plasma exchange and recently, stem cell therapy. Also, acupuncture, herbal therapy, yoga, dietary approaches, bee stings, cobra venum and marijuana have been used as well as physical therapy.

The wide variety of approaches suggest some of the frustration in trying to address the multiple symptoms and variable course of this all too frequent disease.