Celiac disease. Lupus. Multiple sclerosis.
This alphabet soup of debilitating conditions is just a small sample of the 100-plus autoimmune diseases that 50 million people nationwide struggle with every day. Even more startling: 75 percent of those affected are women, according to the American Autoimmune Related Diseases Association (AARDA), a nonprofit advocacy group.
The diseases run the gamut and can impact almost any organ or system of the body. Yet, they have one thing in common: They’re sparked by an immune system gone awry that attacks the very organs it was designed to protect, leading to chronic inflammation, organ damage and other symptoms.
The number of diseases – some rare – is disheartening. Some are life-threatening. Most are life-altering. And, if you have one autoimmune disease, you’re more likely to develop a second or third.
Although there is much research yet to be done on the issue, including why women are more susceptible, there are some theories.
“Autoimmune diseases can occur at any age, but they are predominantly diseases of young women in childbearing years, when society places greatest demands on women,” explained pioneer immunologist Dr. Noel Rose in an interview with AARDA. “Autoimmune disease is not the disease of the patient; it’s the disease of the entire family. That’s why we must pay attention.”
Adds rheumatologist Dr. Kari Sutter, an assistant professor on the faculty of Integrated Medical Sciences at Charles E. Schmidt College of Medicine at Florida Atlantic University in Boca Raton: “We know certain things. Women have a more robust immune system. On the good side, we don’t get as many infections because our immune system is so complex. One thought is because it’s so robust, it makes us more predisposed to autoimmunity.”
Scientists believe the answers lie somewhere with the second X chromosome and female sex hormones. Perhaps that’s why the ratio of females to males who have Hashimoto’s disease is 50 to 1, and 9 out of 10 lupus patients are women. (Lupus is also two to three times more prevalent in women of color.)
Dr. Kari Sutter
Many women with autoimmune diseases, including lupus, may not look sick, adding to their anguish.
“If you tell your friends and teachers that you have cancer, they understand it, but if you tell them you have lupus, they don’t understand that it took you three hours to get out of bed because your joints were so sore and inflamed,” Judith James, chair of the Oklahoma Medical Research Foundation, told The Washington Post. “Lupus can also affect your brain and cause depression and affect your ability to think. It’s a terrible disease.’’
Lupus also poses a significant dilemma when it comes to birth control: Oral contraceptives make the disease worse, says Dr. Sutter, and some women develop autoimmunity issues postpartum.
Unfortunately, there’s more bad news, according to the Office on Women’s Health: “Pregnant women with lupus have a higher risk of preterm birth and stillbirth. Pregnant women with myasthenia gravis might have symptoms that lead to trouble breathing during pregnancy.”
But not all the reports are dire: Many women notice a decrease in their autoimmune symptoms while pregnant.
The cause of autoimmune diseases is unknown, but genetic and environmental factors, such as exposure to toxins or childhood infections, could come into play. Lingering fetal DNA could be a trigger. Another hypothesis is that gut microflora, influenced by sex hormones, might be a contributing factor.
“Autoimmunity is known to have a genetic basis and tends to cluster in families as different autoimmune diseases – a mother may have lupus; her daughter, juvenile diabetes and Hashimoto’s thyroiditis; her sister, Graves’ disease; and her grandmother, rheumatoid arthritis,” according to AARDA’s website.
Dr. Sutter says it’s important to note that doctors don’t screen for most autoimmune diseases because a percentage of the population without clinical disease tests positive for the ANA (antinuclear antibody test) used as a primary test for autoimmune diseases.
After a physical exam and medical history, a patient testing positive for ANA will typically undergo more inflammatory marker tests to help determine where they fall on the autoimmune spectrum. Examples include a complete blood count, C-reactive protein and erythrocyte sedimentation rate. But it’s not an easy or quick process. It can take five years to be diagnosed with an autoimmune disease, and most patients see more than five doctors during that time to reach the diagnosis.
Being diagnosed with an incurable disease can be terrifying, says Dr. Sutter: “There’s nothing that they did or could have changed. They see the worst complications of these diseases – dialysis or being in a wheelchair – and it’s scary.”
Vicki* knows that all too well. The 57-year-old Delray Beach resident was diagnosed with Sjogren’s syndrome, which causes dryness of the mouth, eyes and other mucous membranes, three years ago. She also has fibromyalgia and mixed connective tissue disease, which has lupus-like symptoms, such as muscle, skin and joint pain.
“It’s depressing and debilitating,” she says, adding that it caused her to leave her job as a real estate broker. “From day to day, I don’t know how I’m going to feel. If I do too much exercise, I end up in bed. But, on the other hand, you have to keep your body moving. Every day is a struggle. For me, it’s hard to drive because I can’t keep my arms up.”
To cope with her condition, Vicki takes Plaquenil, a DMARD (disease-modifying anti-rheumatic drug); medical marijuana oil; and naproxen, an NSAID (non-steroidal anti-inflammatory drug). She also attends a monthly support group for Sjogren’s sufferers and seeks comfort in online support groups.
But there is one bright spot, she says: “Luckily for me, I haven’t been diagnosed with rheumatoid arthritis. A lot of people with rheumatoid arthritis and lupus have Sjogren’s.”
Eighty-year-old Georgia* of Delray Beach was diagnosed 10 years ago with lichen planus, which causes an itchy rash on the skin, hair and mucous membranes.
“It sometimes gets worse, but it has never left me,” she says.
The unbearable itchiness and hair loss – along with expensive hair replacement treatments that aren’t covered by insurance – are very stressful. She has one friend she talks to about her illness, but she otherwise doesn’t share her experience with friends or family.
“I periodically get depressed, and then I talk myself out of it,” Georgia says.
To combat the myriad symptoms of autoimmune diseases, doctors prescribe many medicines, including steroids and over-the-counter NSAIDs to reduce joint pain, stiffness and swelling. Although steroids suppress inflammation, their side effects, including weight gain and high blood sugar, make them unsuitable for long-term use.
“They work quickly to calm the system down,” Dr. Sutter says. “The aim of treatment is to get the immune system back in check.”
If the disease is mild, a rheumatologist might prescribe DMARDs to treat rheumatoid arthritis or lupus. If a patient has a more severe case that can’t be controlled by a DMARD, a doctor might prescribe Methotrexate, which is an antimetabolite.
Biologics are another treatment option. These immunosuppressant drugs – “the ones we see on TV,” like Enbrel and Humira, says Dr. Sutter – have been available since the 1990s. Derived from living organisms, biologics are given as injections or infusions to inhibit cell-signaling proteins that cause inflammation.
When it comes to symptom management, one size does not fit all, Dr. Sutter says. The pathway of inflammation determines which drugs to use.
“The role is to block the inflammatory cascade, stop the symptoms, stop destruction, make the patient feel better and prevent disability.”
With all their potential side effects, such as serious infections, biologics “do sound scary on paper,” Dr. Sutter admits.
Dr. Joseph Ahearn
“But in the right hands of doctors who know how to use them and with the right monitoring, patients do very well. They’ve changed the lives of patients who can have completely normal lives.”
There are some changes on the horizon for the diagnosis and treatment of autoimmune disease. The Allegheny Health Network Autoimmunity Institute at West Penn Hospital, the first institute of its kind in the country, opened last year in Pittsburgh. It hosts four Centers of Excellence for the treatment of lupus, rheumatoid arthritis, inflammatory bowel disease and celiac disease. Physicians from clinical subspecialties such as rheumatology, allergy, clinical immunology, pulmonary, dermatology, gastroenterology, nephrology, endocrinology, cardiology and infusion therapy are also on staff.
“The AHN Autoimmunity Institute provides patients a one-stop shop where a team of highly specialized caregivers work collaboratively to develop individualized treatment plans,” Dr. Susan Manzi, chair of the institute’s department of medicine and co-director of the Lupus Center for Excellence, says in a press release. “Here, patients will not get lost.”
Dr. Joseph Ahearn, chief scientific officer for Allegheny Singer Research Institute at Allegheny Health Network, adds: “The pace of discovery right now in autoimmune disease is at its steepest trajectory ever. We are on the horizon for breakthroughs for new medication and new treatments. Our focus has been on better lab tests for diagnosing patients, for prognosis, to determine whether they’ll respond to a therapy, to monitor their disease activity.”
In short, for the nearly 38 million women nationwide who currently suffer from autoimmune diseases – and those yet to be diagnosed – there’s plenty of reason to hope. O
*Names have been changed to protect privacy.
