As researchers discover that more diseases have their basis in autoimmunity, the need for standardized testing becomes apparent.
Testing for autoimmune diseases desperately needs to be standardized, according to Robert Lahita, M.D., Ph.D., chief of rheumatology at St. Vincent’s Hospital in New York and professor of medicine at New York Medical College.
Lahita calls standardization a big problem. “One patient may test positively in one doctor’s office, and negatively in a different doctor’s office because two different labs were used. It’s crazy. It makes things very difficult to diagnose, and it makes for very frustrated patients.”
It also troubles Lahita that often there are no descriptions of the testing technique included along with the lab results. “You just get numbers. There should be a law requiring that the techniques of the tests [be included along] with the results so we know the sensitivities and specificities,” said Lahita, who gets so frustrated with the standards problem that he talks about, “opening up my own lab and doing the tests myself.”
Now there’s a physician with passion about his lab test results! If Lahita has those concerns about testing, it’s likely that other physicians share them. How do the physicians served by your laboratory feel about standardization of autoimmune testing? Somehow, I’m sure this is not the last we’ll hear of this one.
— Coleen Curran
Kellie Martin, former star of the television show “ER,” unexpectedly became the official spokesperson for autoimmune diseases after her sister’s tragic death three years ago. Martin, who has spoken before the United Nations and on the Today Show about the issue, learned through personal experience that doctors lack information about autoimmune diseases even though they are a leading cause of death for women.
Martin’s family tragedy began when her 19-year-old sister, Heather, suddenly experienced fatigue, an unusual skin rash and a variety of unexplained ailments. Baffled by her symptoms for eight weeks, doctors thought it was a virus. No treatment worked, and Heather’s health plunged.
Desperate, the family took Heather to UCLA Medical Center where doctors diagnosed her with systemic lupus erythematosus, or simply lupus. By then, it was too late. Her kidneys failed, and she died from a lung infection.
“Unfortunately, this story is not as rare as it should be,” said Virginia Ladd, president of the American Autoimmune Related Diseases Association, Inc., a non-profit organization dedicated to educating people about autoimmune diseases. Every day Ladd hears heartbreaking stories of children and adults unexpectedly dying from autoimmune diseases.
More than 50 million Americans suffer from autoimmune diseases which account for an estimated $86 billion in healthcare costs annually. Autoimmune diseases result when a person’s immune system attacks his or her own cells. And generally, it is “her.” For unknown reasons, 75 percent of autoimmune diseases affect women in their childbearing years from age 15 to 45. Some theories on why point to women’s hormones gone awry, while others say it’s the downside (over-responding) of our naturally stronger immune systems.
Autoimmune diseases can attack a specific organ or gland. Hashimoto’s disease, for example, attacks and causes chronic inflammation of the thyroid gland. Or, they can attack the entire body, as in lupus, which causes profound fatigue, rashes and joint pain. Individually, autoimmune diseases are rare. Collectively, they are the fifth leading cause of death by disease for women aged 15 to 44. They also are one of the leading causes of death by disease among children and teenage boys. Autoimmune diseases tend to run in families, although they may not be recognized as such since they present with so many different faces. For example, a grandmother who has Type 1 diabetes may have a cousin with psoriasis and a daughter who has rheumatoid arthritis.
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In Kellie Martin’s case, no family history of an autoimmune disease was evident. That may have to do with doctors not being trained to look at autoimmune diseases collectively, like cancer, said Ladd. A woman with Type 1 diabetes dies of kidney failure, yet her death certificate may not state the autoimmune disease that caused it.
“The problem has been lack of awareness.” Ladd said. “The doctor who doesn’t think autoimmune diseases, doesn’t test for autoimmune diseases. It needs to be recognized as a related group. Researchers are now being trained to look at them collectively.”
Between 80 and 100 diseases today fall under the category of autoimmune and more are being discovered daily. Unless the doctor specifically looks for an autoimmune disease, diagnosis is difficult. It can take an average of five years from the onset of symptoms to final diagnosis. About 60 percent of people diagnosed with a serious autoimmune disease verified by a specialist were told they were chronic complainers or too concerned with their health, Ladd said. Advocates have pushed for a national chapter to study autoimmune diseases under the National Institutes of Health, a dream still unrealized, but becoming more promising.
Controversy surrounds the field when determining if a disease is autoimmune-mediated, or not, said Christopher Viele, president of Boise, Idaho-based Kronus, which develops tests for endocrine and metabolic autoimmune diseases such as Graves’ Disease and Type 1 diabetes. “Certain diseases to this day are being argued,” Viele said. “A major cause of death and disability, atherosclerosis, or hardening of the arteries, could even be an autoimmune disease,” said Brys Myers, vice president of sales and marketing at Inova Diagnostics, Inc. in San Diego. “It is now thought that the arteries are not just breaking down with age, there is an autoimmune-mediated inflammatory process at work. Many more studies need to be done,” Myers said.
Testing for autoimmune diseases is the fastest growing area in diagnostic immunology, Myers said. About 15 years ago, the worldwide market was between $50 million to $150 million. Today the market has tripled, he said. “More and more diseases are being considered autoimmune diseases. Any time you learn of the etiology of a disease, you can treat it, and manage it better,” he said.
New autoantigen/autoantibody links to disease are being discovered all the time. For example, tissue transglutaminase (tTG) was recently identified as the primary autoantigen associated with Celiac Disease; 21-hydroxylase (21-OH) has been identified as the autoantigen associated with autoimmune Addison’s Disease; autoantigens to GAD, IA-2 and Insulin have been identified as the autoantigens most closely associated with progression to Type 1 diabetes in high-risk individuals.
The 20 percent market growth annually is mostly attributable to increased testing, said Tedd Mishkin, marketing manager of Wampole Laboratories, in Cranbury, N.J. “The menu keeps expanding as to what’s attributable to autoimmune diseases. As testing becomes more efficient beyond ELISA, you’ll see even more testing done in the autoimmune area.”
Testing needs to be standardized, Ladd argues, and many in the field agree. “Unlike an infectious disease test, where you test for something specific, with autoimmune diseases you are testing for a question mark,” Mishkin explained.
“You can screen for six autoimmune diseases and then confirm with IFA (immunofluorescence) or ELISA and then do reflex testing. It’s a combination of the technologies,” said Mishkin. Previously, testing was done with IFA, looking at antibodies labeled with fluorescent dyes under a microscope, a very subjective task relying on highly trained lab technicians. IFA is still used, but it remains time consuming and tedious. The more automated ELISA method helps overcome the labor-intensive IFA and adds to sensitivity and specificity. “But ELISA hasn’t done as well as people thought it would. Doctors still want to know what the pattern is fluorescing on the slide. It gives them a better idea of the disease state and the treatment required,” Mishkin said.
Only one autoimmune disease, Celiac disease, is curable by eliminating from the diet gluten, which triggers the immune system to attack the intestines. The rest are managed often with lifelong care and monitoring. However, once diagnosed, most people with autoimmune diseases live productive, normal lives.
Lori Tighe is a freelance writer based in Timonium, Md.
