by Sal Capo

One out of every five Americans has some kind of autoimmune-disease. Put another way, that's over 50 million people. Seventy-five percent of those 50 million are women (pemphigus is one of a few autoimmune diseases which treat the sexes equally). Autoimmune problems cause over 80 different diseases, including lupus, scleroderma,, rheumatoid arthritis, multiple sclerosis, autoimmune hepatitis, and of course, pemphigus. So far none of these illnesses can be cured. Noel Rose, M.D., Ph.D., Professor of Molecular Microbiology and Immunology and Pathology at Johns Hopkins University was quoted as saying: "This nation involves some $86 billion of its health care money in the treatment of autoimmune disease. We're talking about a major health problem in the United States. Autoimmune disease in the aggregate is right up there with cancer and heart disease as major disease problems in this country, both from the point of view of the number of people involved and the amount of our health care effort that goes into autoimmune disease."

"Despite their devastating human and economic toll, autoimmune diseases are among the least investigated, most difficult to diagnose, and physically and emotionally painful diseases that face Americans today," said Susan Wood, Ph.D., and newly appointed Acting Deputy Assistant U. S. Secretary for Women's Health, Department of Health and Human Services for the National Institutes of Health.

Stephen Katz, M.D., Ph.D., Director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases, stated: "Two of the hottest areas in medicine today are genetics and immunology. Advances in these areas will have a direct impact on our understanding of autoimmunity. With regard to genetics, the fact that autoimmune diseases can run in families indicates that the development of these diseases has a genetic basis." Several genetic studies released recently have identified genes that may play a role in autoimmune diseases.

Towards that end, one study by the Yale University School of Medicine and St. Mary's Hospital in Connecticut isolated an antibody which is a "common thread" in families. This antibody, known as the antiphospholipid antibody (APL), is an "auto-antibody" protein produced by the body to attack itself. When APL levels are too high disease occurs. If at least one family member suffers from an autoimmune disorder associated with high levels of APL, others did also.

Twenty-three family members, 87 blood relatives, 18 spouses and 37 controls were included in the Yale and St. Mary's study. Auto-antibodies were found in almost 60% of the blood relatives. Only one spouse showed the same. One third had APL antibodies, while another 37% had other autoantibodies. The control subjects showed no positive results. Eight relatives were found to have lupus or lupus-like syndrome, two had suffered premature stroke, and three had recurrent fetal loss.

Thomas Greco, M.D., assistant clinical professor of medicine at the Yale University School of Medicine said "While the study is relatively small, it is supported by other previous studies that suggest APL antibodies may actually be genetically transmitted from family member to family member, from generation to generation. More important, the APL antibody may be associated with one disease process in one family member and yet another disease process in another family member."

Independent research by Duke University scientists into the genetic patterns of 12 unrelated families with APL found the possibility that a single inherited genetic defect may be at fault. These findings support Dr. Greco's research, and in fact, Dr. Greco has begun a study with Duke University researchers to define the genetic defect which causes these diseases. This would put Dr. Greco on the evening news and be a major step in medicine for humankind.

Recent data presented by French researchers shows families with APL antibodies had diseases related to these proteins, as well as many other immune system troubles such as rheumatoid arthritis, systemic lupus erythematosus, and multiple sclerosis, among others.

Dr. Greco pointed out that while these proteins are seen in only about one or two percent of the population of patients nationwide, in affected families the rate may be as high as 50%.

"If an APL inheritance pattern can be firmly established in future studies, the good news is that we may be able to prevent premature stroke, heart attack, recurrent miscarriage and the other APL-associated diseases by performing simple and inexpensive tests and taking more thorough family histories," Dr. Greco predicted.

"It may be premature to say, but APL may end up being one of the common threads that ties together all of the seemingly unrelated 80 known autoimmune diseases," said Virginia Ladd, president of the American Autoimmune Related Diseases Association (AARDA). "If it turns out that APL is a common factor in autoimmune diseases, then the next step for researchers is to begin looking for an autoimmune gene."