Understanding autoimmune disorders

April 13, 2012 By Nancy Churnin

Kathy Krolikowski of Frisco, Texas, suspected something was wrong long before her doctors did.

Every time she said her body ached, she was told she was working too hard or not exercising enough. It took three years before she heard, just as she had suspected, that she had the same autoimmune disorder that had afflicted her mother: rheumatoid arthritis.

Autoimmune disease, which disproportionately strikes women, is easy to miss, says Dr. Neelay Gandhi, a family practitioner on the medical staff at Baylor Regional Medical Center at Plano, who took over Krolikowski's care six months ago.

That's because the general symptoms of fatigue and achiness are common, and autoimmune disease can take many forms, including lupus, thyroid disorders and multiple sclerosis, he says.

In , an immune system attacks the healthy tissues it was designed to protect. Getting an early diagnosis can be crucial because the damage the disease causes generally can be stopped or slowed, but not reversed. Krolikowski, 64, says that's why she advises women to be persistent when something feels wrong and to find a doctor who will be attentive to their concerns.

"Sometimes it's hard to keep going in when you think, 'They don't believe me. What am I going to do?'" she says.

Dr. Noel Rose, director of the Johns Hopkins Center for Autoimmune Disease Research in Baltimore, has spent decades advocating for increased recognition of autoimmune diseases, which he says afflict an estimated 20 million Americans. Three-fourths of those cases are women; the Office of Research on Women's Health at the National Institutes of Health describes it as the underlying cause of more than 100 serious, , and it was cited in the in 2000 as being one of the top 10 leading causes of death among women 65 and younger.

The hope for cures lies in finding the common roots for the diseases that continue to be treated in a "scattershot" way by a variety of specialists as separate conditions, says Rose, co-author of the Encyclopedia of Autoimmune Diseases (Facts on File, $75). Rose would like to see autoimmune disease recognized as an umbrella for these various conditions, just as cancer is used to describe a wide array of diseases with an underlying cause.

In fact, the more we understand about autoimmune disease, the better we will understand cancer because they're opposite ends of the same problem, he says. Cells are too quick to attack healthy tissue in autoimmune disorders and too slow to fight in cancer, allowing harmful tissue to grow out of control.

"Autoimmune diseases are relatively common, and people should be aware that they're as much a threat to their health as cancer and heart disease," Rose says.

Dr. Benjamin Greenberg, a neurologist and assistant professor at UT Southwestern Medical Center at Dallas, sees great promise in the Boston-based Accelerated Cure Project. While it focuses primarily on supporting the latest research on multiple sclerosis, the studies can provide insight into other autoimmune disorders, he says. He also encourages patients to check clinicaltrials.gov, where patients can learn about the latest drugs being studied for various conditions.

Greenberg says research suggests that some important risk factors for autoimmune disorders are vitamin D deficiency, smoking, genetics, toxins in the environment and poor nutrition. Current cures involve killing or suppressing the cells. One exciting idea on the horizon involves drugs that can retrain cells to not attack healthy tissue, he says.

An intriguing area to explore is why women suffer disproportionately from autoimmune disorders. Experts speculate that because hormones tend to stimulate immune responses, women's major hormonal swings may play a significant role in many, though not all forms, of the disease (Type 1diabetes actually occurs more often in males). Women seem to be at greatest risk during their childbearing years.

Good communication between doctor and patient can prove key to navigating this disease, Greenberg says. In neuromyelitis optica, a rare autoimmune disorder that attacks the optic nerves and spinal cord, he learned, many patients reported incidents of vomiting or frequent hiccups before the symptoms manifested themselves. Now when he takes a patient's history, he asks about hiccups and vomiting.

"If they have this condition and you catch it early, you can prevent them from losing their vision or becoming quadriplegic," he says.

Elizabeth Brammer, 30, of Burleson didn't have anyone around to ask her questions like that when she was 11 and began struggling off and on with her eyesight. Her symptoms were dismissed at first as a plea for attention and were later mistakenly diagnosed as multiple sclerosis.

Due to the lack of proper treatment, she lost vision in one eye while in college. She finally got the correct diagnosis from a neurologist in New York four years ago. Since moving to Texas in 2010, she has been under the care of Greenberg, who prescribes regular, preventive immunosuppressive medications that have prevented a flare-up, attack or relapse during her pregnancy with her twin boys. Gavin and Garrison turned 1 on March 24, and she continues to be in remission.

For Brammer, finding out she had neuromyelitis optica, or NMO, came as a shock, a relief and a vindication that she was right to push her doctors into investigating her case further for so many years.

"I was overwhelmed. I cried because at least I had found a compass as opposed to rolling around in circles not knowing what to think or what in the world was going on. It's terrifying that I have NMO, but at least now I am under the proper care."


Lupus: The immune system creates an antibody that can damage any part of the body, but most commonly the joints, skin, kidneys, heart and lungs. Symptoms include fever, weight loss, hair loss, mouth sores, fatigue, rashes, painful or swollen joints and muscles, sensitivity to the sun, chest pain, headache, dizziness, seizure, memory problems and behavior changes.

: The immune system attacks the lining of the joints, resulting in fatigue, fever, weight loss, eye inflammation, lung disease, lumps of tissue under the elbows and anemia. Can lead to stiff, swollen, deformed joints and reduced movement.

Multiple sclerosis: The immune system attacks the protective coating around the nerves, damaging the brain and spinal cord and causing trouble with coordination, balance, speaking and walking. It can ultimately lead to numbness and tingling in arms, legs, hands and feet and to tremors and paralysis.

Thyroid disease (two common forms):

Hashimoto's disease (underactive thyroid): The immune system damages the thyroid gland, leading to decreased production of thyroid hormone, resulting in fatigue, weakness, weight gain, sensitivity to cold, muscle aches, stiff joints, facial swelling and constipation.

Graves' disease (overactive thyroid): The immune system binds to receptors in the thyroid gland and activates the gland to make too much thyroid hormone, resulting in insomnia, irritability, weight loss, heat sensitivity, sweating, brittle hair, muscle weakness, light menstrual periods, bulging eyes and shaky hands.

Explore further: Increased risk of blood clots on the lung for patients with autoimmune diseases

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