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Lisa Hubbell suffered from bone-deep fatigue even though she slept 10 or 11 hours a day. But her son had just started kindergarten, she had recently finished a 60-mile breast cancer walk and was busy with work, so she just chalked up her exhaustion to a hectic life. But when the fatigue didn't let up and she developed joint pain a few months later, she knew something was really wrong.
In December 2002, Lisa saw a specialist who gave her a diagnosis: rheumatoid arthritis, an autoimmune disorder in which the body attacks the joints, causing them to become stiff, swollen and incredibly painful. She took steroids, which did ease the painful joint inflammation. "But they made me jittery, cranky and fat," says Lisa.
Over the next four years, Lisa tried a slew of other medicines that are known to help rheumatoid arthritis, but for her, they either worked temporarily or not at all. Then she read about an experimental new treatment, Rituxan, and the minute it was approved for rheumatoid arthritis in 2006, Lisa's doctor prescribed it to her. In just weeks, Lisa was able to get back to an almost-normal life of cooking, gardening and working as a freelance writer. "I'm a scrapper," says the 44-year-old, who lives in the Seattle area. "Rituxan gave me the ability to fight again."
Lisa is just one of an estimated 14 to 23 million Americans—three-quarters of whom are women—who suffer from autoimmune disorders, a group of 80 or more conditions (including type 1 diabetes, lupus, rheumatoid arthritis, psoriasis and multiple sclerosis) in which your immune system basically turns against you and attacks healthy organs and tissue.
But there's promising news: Thanks to a greater awareness of how widespread these disorders are—they're almost as common as cancer and heart disease—doctors now understand more about what causes them and have developed better diagnostic tools and treatments.
"It used to be that treatment of autoimmune diseases relied on one of two principles," explains Noel R. Rose, MD, PhD, director of the Center for Autoimmune Disease Research at Johns Hopkins University in Baltimore. "We either replaced the functioning of the damaged organ, as we do with the thyroid gland in thyroid disease—or suppressed the whole immune system, as we do in lupus and rheumatoid arthritis. But now we've developed drugs that target the specific parts of the immune system that are responsible for the disease."
Why the increase?
During the last few decades, the number of people with autoimmune disorders has skyrocketed. Certainly more people are being diagnosed, but that's not the only reason. Some experts believe the dramatic uptick is in part due to the increase of pollution and chemicals in the environment, which activate your immune system in much the same ways that infections do. Other researchers think that the obesity epidemic comes into play—obesity can cause inflammation, which can prompt the immune system to attack the body. Another potential culprit: being "too clean." The so-called hygiene hypothesis is based on the notion that when you're not exposed to viruses, bacteria and other germs, your immune system develops differently. When it is exposed to these things, it may respond in a way that predisposes you to an autoimmune condition, says Anne Davidson, MD, a rheumatologist at the Feinstein Institute for Medical Research in New York.
Because autoimmune diseases affect three times as many women as men, scientists suspect that the hormone estrogen may also play a role, says Betty Diamond, MD, chief of the Autoimmune Disease Center at North Shore Health System in New York. And although it's still unclear whether stress causes or simply exacerbates autoimmune disorders, research suggests that constantly elevated stress hormones can impair the immune system. In fact, numerous studies of people under chronic stress show they have much higher levels of a protein that causes inflammation.
Exposure to certain viruses like Epstein-Barr can also prompt the body to damage its own cells. "These infections can linger in our bodies long after we've recovered from the original illness and cause the immune system to mistakenly attack itself as a foreign invader," says John Harley, MD, PhD, chair of the Arthritis and Immunology Research Program at the Oklahoma Medical Research Foundation in Oklahoma City.
One thing experts do know for sure is that your genes play a role. "About one-third of your risk of developing an autoimmune disease is inherited," says Dr. Rose.
A faster diagnosis
Because symptoms of autoimmune disorders like pain and fatigue are hard to measure, and others like inflammation and weight gain or weight loss can be caused by many other diseases, getting a diagnosis can be tough. But one discovery has become a useful early warning: Certain genes and combinations of genes have been linked to these conditions. "We hope that in the next 10 years there will be a genetic test that can predict who's at higher risk for autoimmune disorders, so we can do more aggressive screening on those people and treat them before irreparable damage has been done," says Dr. Rose. (Actually experts can already do this with type 1 diabetes. "In families with a diabetic child, we can put together genetic information on the 'normal' sibling, test him or her for antibodies, and predict with a fair amount of certainty whether he or she is going to develop diabetes in the next five years," he explains.)
Doctors also now have a clearer understanding of the results of a blood screening called the antinuclear antibody test, which detects if you're making antibodies against your own cells. And even though a problem with diagnosing many (but not all) of these disorders is that there isn't one specific test to detect them, experts are much better at spotting the abnormalities that they can cause, says Josiah Wedgwood, MD, chair of the Autoimmune Disease Coordinating Committee at the National Institutes of Health.
Better treatments
All of these discoveries have led to the development of a new class of drugs called TNF (tumor necrosis factor) inhibitors, which stop the signals that cause inflammation. "TNFs are a real conceptual step forward, since they don't suppress the entire immune system and cause the health issues and side effects other medications can," says Dr. Rose.
"For many autoimmune diseases, the existing treatments we have work—like thyroid replacement hormone for thyroid disease and insulin injections for diabetes," adds Dr. Diamond. "But for the harder-to-treat disorders and people who can't tolerate steroids, these drugs give new hope. Instead of being destined for a wheelchair, patients can stay independent and even keep working. They've really transformed people's lives."
Protect your immune system
Maintain a healthy weight. Obesity can cause inflammation in the body, which can activate the immune system.
Don't smoke. Research shows that it doubles your risk of rheumatoid arthritis, and experts think it probably increases the odds of developing other autoimmune conditions.
Exercise. It strengthens your immune system and lowers levels of stress hormones. Plus, regular low-impact exercise—walking, cycling, swimming—may reduce the often-debilitating fatigue that comes with autoimmune disorders like lupus, rheumatoid arthritis and MS, according to recent studies.
Go green when cleaning. It will reduce your exposure to chemicals.
The new drugs
Humira (adalimumab)
TREATS rheumatoid arthritis, juvenile arthritis, psoriatic arthritis, ankylosing spondylitis (a form of arthritis) and moderate to severe psoriasis. Also for Crohn's disease if other treatments don't work.
GIVEN AS an injection, usually every other week.
Enbrel (etanercept)
TREATS rheumatoid arthritis, moderate to severe psoriasis, psoriatic arthritis, ankylosing spondylitis, juvenile arthritis.
GIVEN AS an injection once a week.
Remicade (infliximab)
TREATS rheumatoid arthritis, psoriatic arthritis, ulcerative colitis, Crohn's disease, ankylosing spondylitis and severe psoriasis.
GIVEN AS an intravenous infusion at intervals of several weeks.
Cimzia (certolizumab pegol)
TREATS moderate to severe Crohn's disease in adults who haven't been responding to conventional therapy.
GIVEN AS injections once every four weeks.
Rituxan (rituximab)
The drugs listed above are TNF inhibitors; this drug is what's called B-cell therapy. It targets cells that play a role in rheumatoid arthritis.
TREATS rheumatoid arthritis; also being tested for multiple sclerosis.
GIVEN AS two infusions separated by two weeks; repeated every six months.