Technology aids MS detection, but diagnosis still challenging

Washington -- Multiple sclerosis is beginning to reveal some of its secrets to the researchers who study the disease that plays havoc with the central nervous systems of about 400,000 Americans.

Although its cause remains elusive, a possible scenario for its development includes a genetic predisposition that may be influenced by infectious agents and environmental factors, said researchers at a June 24 Capitol Hill briefing.

The event was sponsored by the Society for Women's Health Research and the National Multiple Sclerosis Society.

About 20% of people with MS have a family history of the disease, said Henry McFarland, MD, chief of neuroimmunology at the National Institute of Neurological Disorders and Stroke.

Studies comparing identical twins and fraternal twins have offered evidence of the disease's genetic component. According to researchers from the University of California, San Francisco, the risk for developing MS when one twin has the disease is 2% for an unaffected fraternal twin and between 25% and 30% for an identical twin. But findings also point to a strong environmental influence because only a minority of genetically identical twins are both affected with MS.

The disease is generally more common among people of Northern European descent, and some populations have a very low incidence. For example, although MS is rare among Hungarian Gypsies, it is relatively common among other Hungarians, Dr. McFarland said.

Research indicates that a complex interaction of genes, perhaps between 50 and 100, is at work in the development of MS, Dr. McFarland said. A consortium of researchers in the U.S. and the United Kingdom have joined together to try to unravel the genetic influences, he noted. Last year two more genes were identified.

A diagnostic advance

Until recently, the disease has been difficult to diagnose, since its symptoms, which are many and varied, are shared with other conditions. But this ambiguity also can be a diagnostic clue: "The more difficulty people have in trying to explain the symptoms, the greater the likelihood that it is MS," said Heidi Crayton, MD, medical director of the MS Center of Greater Washington and an assistant professor of neurology at Georgetown University Medical Center in Washington, D.C.

Muscle rigidity is probably among the most widely recognized, but other systems can include bladder and bowel problems, numbness and tingling, pain and vision problems. "For years people with MS have been told there is no pain involved, but that's just not true," she added.

Among the most troubling symptoms is the cognitive difficulty that comes from loss of brain tissue in some patients, Dr. Crayton said. "This symptom is common, especially in untreated patients."

The 45% to 65% of patients who will develop cognitive impairments within 10 years is a "huge issue now," she said. It also is the focus of treatment.

Detection of the disease has become easier with the use of MRIs, which can make the "invisible visible," she said. Brain atrophy and spinal cord lesions are clearly seen in scans. But the link between MRI findings and the clinical status of a patient is not clear, she noted.

A number of possible triggering infectious agents have been studied, including the herpes virus and the Epstein-Barr virus, Dr. Crayton said. "We're starting to see that many people who have MS have also had mono infections in the past."

In addition, advances have been made in understanding the environmental factors involved in the disease, Dr. McFarland said. Ongoing studies are looking at exposure to ultraviolet light and the relationship of vitamin D levels before MS onset.

A "hygiene hypothesis" also is being investigated, he said. The thought behind this notion is that people with good hygiene are more vulnerable to the disease.