The symptoms may be vague at first—aching joints, weakness or fatigue. They might recede for a while, but then chest pain, mouth sores or other more specific signs emerge.
At issue could be an autoimmune disease, a category of more than 80 conditions in which the immune system goes haywire and attacks the body’s own tissues.
Estimates on the exact number of Americans grappling with autoimmune disease range from 24 million to 50 million, but medical professionals and researchers do agree that the ailments are far more prevalent in women. Ninety percent of people with lupus, for instance, are women.
Getting a diagnosis for autoimmune disease often feels like following a meandering path. Many patients spend nearly four years and see at least four physicians before receiving answers, according to survey results from the American Autoimmune Related Diseases Association Inc.
“It’s a source of tremendous frustration,” says Virginia Ladd, president and executive director of AARDA, which is based in Eastpointe, Mich.
Some patients get written off as chronic complainers in the earliest stages of their illness, she adds.
“So if you see four or five doctors—and that’s the average; some have seen many more—and you don’t have a diagnosis, and you have that implied to you, you begin to wonder about your own sanity,” Ladd says. “And your family does also because, after all, you’ve seen all these doctors, and nobody can find out what the problem is. But you know there is something wrong.”
Douglas Jones M.D., a rheumatologist at Rochester Regional Health, agrees that autoimmune disease can be tough to diagnose.
“The symptoms vary widely,” Jones says. “The tests are not perfect, and our labels are not perfect, actually.” If a patient has all the criteria for lupus and rheumatoid arthritis, “now what do you call them? It’s hard to say,” he says.
Low public awareness also complicates diagnosis. According to the AARDA, only 19 percent of Americans can name at least one autoimmune disease — examples of which include psoriasis, celiac disease and type 1 diabetes.
When AARDA was founded in 1991, “93 percent (of the public) thought autoimmune disease was AIDS,” says Ladd, alluding to confusion between “acquired immune” and “autoimmune.”
Back in the early ’90s, autoimmune conditions also were not recognized as a disease category, Ladd says. That has changed, but “we still don’t have an autoimmunologist,” she adds.
Some public awareness gains have been made, says Jennifer Anolik M.D., an adult rheumatologist at the University of Rochester’s Lupus Clinic. The National Institutes of Health and the Centers for Disease Control and Prevention, for example, have poured more effort into getting the word out about lupus, which can damage the kidneys, heart and other parts of the body.
“But, clearly, more can be done because probably if you ask the average person, ‘Have you ever heard about lupus?’ there’s still going to be many people who haven’t,” Anolik says. “For the commonness, relatively, of the disease—one in 250 to one in 1,000—probably there should be more awareness than there is.”
Of all the autoimmune diseases, Jones sees lupus most frequently in his female patients.
“I think we’re seeing more referrals for all these diseases partly because our testing is better,” he says.
Lupus typically strikes during childbearing years, but women can get through pregnancy safely.
“There are certain tests that will tell us if (mothers-to-be) are getting into trouble and allow us to increase treatment,” Jones says.
Anolik, an associate professor of medicine, allergy/immunology and rheumatology at University of Rochester Medical Center, agrees that pregnancy is an option for women with lupus.
“I have a lot of lupus patients that have had healthy children, and it’s not considered a contraindication for getting pregnant. But you have to be followed really carefully,” she says. “The better that the disease is controlled, the better the pregnancy is going to go.”
Still, lupus symptoms present particular challenges for women. Patients may lose their hair or develop a butterfly-shaped facial rash.
“It’s unusual, but certain kinds of lupus rashes—for example, discoid lupus—can even be scarring,” Anolik says.
She adds: “The flipside of the coin that I often hear women—and patients with lupus in general—talk about is that a lot of the disease isn’t visible to other people. So you may have very profound joint pain and even swelling in the joints that other people can’t perceive and fatigue that just is disabling. Family and friends may (say), ‘You look fine. You look normal. I don’t understand why you feel so lousy.’”
Beyond the personal side, lupus often intersects with when women are making career choices or establishing themselves in the workplace.
Exactly how much autoimmune disease costs employers is unknown, but the estimate of how much the federal government pitches in to cover hospitalizations and home-care nursing for rheumatoid arthritis patients alone approaches $5 billion annually. Some argue that including questions about family history of autoimmune disease on medical history forms would help trim those costs.
That information also would ease the process of diagnosis.
“If a physician saw that (information), that would be what would trigger them to think, ‘Well, could this be an autoimmune disease?’” Ladd says.
Local health initiatives have helped cast a spotlight on autoimmune disease, says Anolik, who has given talks at UR symposia on how women with lupus and rheumatoid arthritis have an increased incidence of cardiovascular disease.
“There’s increasing emphasis on these important diseases, and the key to advances in terms of better diagnostics and more effective treatments that are more targeted and less immunosuppressive is research,” adds Anolik, coauthor of a study on how tonsil tissue reveals key information about what goes medically wrong in lupus patients.
Yet life-altering fatigue and other aspects of autoimmune disease still get too little attention, Ladd says.
“So we are pressing for the National Institutes of Health to do more research on that symptom,” she says.
Sheila Livadas is a Rochester-area freelance writer.
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