Body can be its own worst enemy Doctors explore bad immune systems running in families

March 01, 1996|By Diana K. Sugg | Diana K. Sugg,SUN STAFF

Jacque Redmond suffers from an abnormal blood clotting condition. She and her mother had miscarriages. Three of her cousins have insulin-dependent diabetes, and another cousin has a heart defect. But until this week, the Columbia woman didn't realize her family members' symptoms were anything but random.

Like one in five Americans, Mrs. Redmond and her relatives have immune systems gone awry, a bodily response that researchers have begun to identify as the underlying cause of more than 80 diseases. As physicians and patients put these autoimmune conditions in context, diagnosis and treatment are changing.

"It's like, 'Wow, all of a sudden I can see it's linked,' " said Mrs. Redmond, 44, who plans to attend a public forum in Baltimore on Sunday to collect information for relatives as far away as Missouri. "On one hand, I think, 'Finally we're beginning to figure something out.' On the other hand I think, 'My God, they've now got grown children who are having children, and they're passing them on.' "

At a national symposium this weekend in Baltimore, specialists from dermatologists to endocrinologists will meet to share their knowledge about recognizable autoimmune diseases such as lupus and multiple sclerosis as well as conditions many people do not realize are autoimmune, such as psoriasis and ulcerative colitis.

The conditions are not contagious or infectious, but are caused by a body's immune system turning on itself. Instead of attacking foreign invaders such as viruses or bacteria, some parts of the immune system mistakenly go after the body's own tissues and organs, from the skin to the heart. Cardiomyopathy, one of the major causes of heart failure in young Americans, can be caused by such an autoimmune response.

"Recognizing and diagnosing these diseases could lead to treatment that could preserve the patient's health and actually save his life," said Dr. Noel R. Rose, professor of pathology and molecular microbiology and immunology at Johns Hopkins University.

But the long-time autoimmunity researcher said that diagnosis can be hindered by physicians who fail to view the illnesses collectively.

Autoimmune diseases are three times more prevalent among women than men and often strikes the young, leaving them with chronic, debilitating conditions that have no cure.

Researchers believe people inherit genes that predispose them to developing the diseases, but some outside factor -- such as a drug, a pollutant, or a food -- may bring out the response. Put another way, the genes load the gun, and something in the environment pulls the trigger.

Awareness by physicians and patients is crucial, since autoimmune diseases often begin insidiously, with the person feeling unusually tired, garbling a word once too often, or dropping things or tripping. The symptoms are often shrugged off by people and doctors until the person becomes partially paralyzed or suffers excruciating pain from a blood clot.

Even then, diagnosis can be difficult. Symptoms come and go. Some people swiftly find themselves disabled. Dale E. Moore left his car repair business yesterday after 20 years. The Fairfax, Va. man, 46, has severe nerve damage from an autoimmune disease known as chronic inflammatory demyelinating polyneuropathy.

Expensive intravenous treatments have enabled him to keep walking, although he struggles with stairs. Feeling has returned to his numb hands and arms, so his 6-year-old son can't beat him at arm-wrestling anymore. Still, his future is unclear.

One of the newly recognized autoimmune diseases, called antiphospholipid antibody syndrome or APS, causes trouble with the blood's clotting function and can lead to miscarriages and potentially fatal blood clots in the brain.

Mrs. Redmond, who had three miscarriages and was on her second of three blood clots before she was diagnosed with the syndrome, is now worried that her relatives might have the antibody as well.

Recent research supports the idea that this antibody may be genetically transmitted. A Yale University study published in November found that among 87 blood relatives of people with APS, 50 had autoantibodies, compared with only one spouse. Also, more relatives suffered from the manifestations of APS than did either the spouses or people in a control group. Several relatives were found to have lupus, premature stroke or recurrent miscarriages.

Because autoimmune diseases are thought of individually, they aren't given the attention of other major illnesses, despite their collective toll. The diseases cost about $86 billion annually, according to the American Autoimmune Related Diseases Association.

The group was founded four years ago by Virginia Ladd, a Detroit woman who, like many other autoimmune patients, has more than one condition: lupus, pernicious anemia and APS.

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