Life and death with an autoimmune disease
There are now more than 100 autoimmune diseases, in which the immune system that would normally help a person fight off disease instead mistakenly attacks healthy tissue and does damage to the body.
According to the National Institutes of Health, up to 23.5 million Americans suffer from an autoimmune disease, and the incidence of many of the conditions is rising for reasons that aren’t entirely clear. And the list of potentially fatal autoimmune diseases, or those that can shorten life span, is long. These conditions include everything from rheumatoid arthritis, which causes pain and swelling in the joints and raises the risk for life-threatening cardiovascular disease, to lupus, a chronic disease that can cause inflammation in any part of the body.
“Almost all autoimmune diseases decrease life expectancy,” says Dr. Betty Diamond, director of the Institute of Molecular Medicine at the Feinstein Institutes for Medical Research at Northwell Health in Manhasset, New York. One notable exception is hypothyroidism, or underactive thyroid, she says.
Treatment advancements mean many with autoimmune diseases now live longer.
While disease severity varies, improvements in treatment have greatly bolstered life expectancy and improved quality of life for many with autoimmune conditions. Therapeutic advances include biologic drugs that suppress the immune system activity — or overactivity — that causes myriad health problems for those with autoimmune diseases such as lupus and multiple sclerosis.
Frequently, as with other disease prevention and management, a combination of lifestyle improvements — like eating well, exercising regularly and getting adequate sleep — and medical management are recommended.
“The most important thing is to find a physician who’s knowledgeable and experienced and with whom you work well, and together work out a treatment regimen that works for you,” Diamond says.
Overlapping autoimmune conditions
To complicate matters, some patients may have more than one autoimmune condition. “Having myasthenia gravis puts you at risk for other autoimmune diseases,” says Dr. Sujata Thawani, an assistant professor in the division of neuromuscular medicine at NYU Langone Health in New York City. For example, “A common comorbid autoimmune disease of myasthenia gravis is hypothyroidism, which is very common in the (general) population.”
However, Thawani adds, having two autoimmune conditions — such as myasthenia gravis, systemic lupus or Sjögren’s syndrome — combined “can be challenging to manage.”
Although research is ongoing, experts suggest it’s possible that genetic risk factors, environmental triggers or an already-vulnerable immune system contribute to a patient having more than one autoimmune disease.
Here are nine autoimmune diseases that may impact life expectancy and how treatment advances are beginning to change that:
Autoimmune diseases may impact mortality in a couple ways:
— First, more common autoimmune diseases like rheumatoid arthritis and Type 1 diabetes can have an impact on the lives of a greater number of people.
— Second, “there are autoimmune diseases that have a very high rate of mortality but are very rare,” says Dr. Virginia Pascual, director of the Gale and Ira Drukier Institute for Children’s Health at Weill Cornell Medicine in New York City. One example of that, she notes, is autoimmune myocarditis, a rare autoimmune disease characterized by inflammation of the heart muscle.
Myocarditis is often diagnosed in people in their 20s to 40s, and symptoms like abnormal heart beat, chest pain, shortness of breath, fatigue and fever can come on suddenly and without warning. The condition is underdiagnosed and may cause sudden death.
So if you experience symptoms that present like a heart attack, it’s important to seek medical attention immediately for treatment and to evaluate possible causes, including the possibility of myocarditis. When it’s diagnosed, drugs that suppress the immune system may be used to treat autoimmune myocarditis.
Nearly 1 million people in the U.S. are living with multiple sclerosis, according to the National Multiple Sclerosis Society. This autoimmune disorder affecting the brain and spinal cord results from the immune system attacking a protective layer around the nerves called the myelin sheath, which can cause a range of problems. These include difficulty with coordination and balance to thinking and memory issues.
Treatment improvements continue to inch life expectancy for those with MS closer to what’s typical for people without the neurological disorder. However, research published in the journal Neurology suggests people with MS live seven years less, on average; those with MS had a median age of survival of about age 76 compared with 83 for a matched general population, according to the 2015 study.
A long-term study from Norway also found a seven-year shorter life expectancy for people with MS, published in the August 2017 issue of the Journal of Neurology, Neurosurgery and Psychiatry.
Among other treatment options, drug therapies targeting B cells — a type of white blood cell, or cells used by the body’s immune system — have shown promise. “B cell depletion therapy has been phenomenal for many patients with multiple sclerosis, and is now standard of care, which it certainly wasn’t some years ago,” Diamond says.
In addition to treating the autoimmune disorder itself, clinicians have to be mindful of treating other health problems caused by or related to the autoimmune disorders. For example, the most common type of lupus, systemic lupus erythematosus, causes widespread inflammation and impacts organs like the kidneys (a form called lupus nephritis). So improved treatment of kidney disease, including the availability of kidneys for transplant, has helped improve the outlook for many with lupus.
Therapies that suppress the immune system also put patients at a higher risk of infection, a cause of death in some patients with lupus. So improved treatment of infections — including, as Diamond notes, having better antibiotics for some of those infectious complications of treating lupus — has also positively impacted survival rates for people with lupus.
As with other autoimmune conditions, various factors impact life expectancy for people with lupus, including, for reasons not fully understood, ethnicity. “Lupus mortality is increased in this country in African-Americans, in Hispanic populations, in Asians and is decreased in Caucasians,” Pascual says.
Type 1 diabetes
Commonly diagnosed in kids, Type 1 diabetes is an autoimmune disease in which the immune system attacks the pancreas so that it can’t make the insulin needed to properly control blood sugar.
Those with diabetes that’s well-controlled can live long, full lives and have good quality of life. However, particularly if it isn’t well-managed, Type 1 and other forms of diabetes (which aren’t autoimmune diseases) can cause a variety of serious complications. Those can include kidney and heart disease, eye disease, or diabetic retinopathy, and nerve problems.
Type 1 diabetes is managed with insulin — to keep blood sugar within a healthy range — rather than suppressing the immune system. Exemplifying the impact of lifestyle, proper management of Type 1 diabetes means also carefully considering diet, as well as exercising regularly. That includes controlling carbohydrate consumption and evenly spreading carbs across the day with meals and snacks.
Vasculitis — inflammation of the blood vessels, which is often caused by autoimmune disorders — also decreases life expectancy, notes Dr. Ignacio Sanz, chief of the division of rheumatology at Emory University School of Medicine, and director of the Lowance Center for Human Immunology at Emory University and Children’s Healthcare of Atlanta.
Treatment involves using medications like corticosteroids to control inflammation as well as addressing any underlying disease. Biologic therapies may be used to deal with immune system issues that contribute to the condition.
To prevent infections that can occur when immunosuppressive treatments are used for any autoimmune disorder, patients are encouraged to stay up to date on vaccinations. That includes getting vaccinated to prevent the flu, shingles and pneumonia, as recommended by a doctor. Vaccination should be part of the standard of care with autoimmune diseases, Sanz says.
Myasthenia gravis is an autoimmune neuromuscular disease with an estimated 36,000 to 60,000 cases in the U.S., although the prevalence is likely higher, according to the Myasthenia Gravis Foundation of America.
“It’s considered a disease of the neuromuscular junction,” Thawani says. “It’s the space in which a muscle and a nerve are communicating. There’s a disconnect between that communication.” What happens is that key proteins in the muscles are not getting appropriate signals from the nerve terminal, or nerve ending, she explains. “As a result, the muscle gets fatigued more easily. It becomes weaker.”
In the condition, a majority of patients produce harmful antibodies that hamper these key receptor proteins. These are known as acetylcholine receptor antibodies and muscle-specific tyrosine kinase antibodies. However, no associated antibody is found in 20% of cases, Thawani says.
Myasthenia gravis has a predilection for certain muscle groups:
— Ocular muscles that control eye movements and the eyelids.
— Muscles in the larynx and pharynx involved with swallowing and speech.
— Head and neck muscles that provide support.
— Limb muscles, shoulder and hip girdle, muscles of the hands and feet.
In the general population, although the disease affects patients of all ages, two peak periods — one for younger women and the second for older men — occur for when people are most likely to be diagnosed with myasthenia gravis, Thawani says.
“Most people can have a normal life expectancy,” she says. “MG has a prognosis of less than 5% mortality. Fifteen percent of people with MG can develop a myasthenic crisis, in which they develop severe weakness of respiratory muscles that leads to prompt treatment in an intensive care setting.”
Unfortunately, 15% of patients have what is considered very refractory (treatment-resistant) myasthenia gravis, Thawani says. That can be due to having associated MuSK antibodies, thymomas (tumors of the thymus gland) and having complex comorbid conditions. The mainstay of treatment is immune suppression.
Individualizing treatment for myasthenia gravis
With myasthenia gravis, treatment typically starts with a medication called pyridostigmine to improve communication between the nerve endings and muscle and to increase strength.
“Some people do fine just with that, but most people — especially if they have generalized myasthenia involving the arms and more muscles of the face — end up needing an immune-suppressing agent,” Thawani says. That includes steroids like prednisone or nonsteroid medications such as azathioprine, mycophenolate and intravenous immunoglobulin, or IVIG; and plasmapheresis, a blood treatment.
Many patients, among those who have acetylcholine receptor antibodies, benefit from a surgery called thymectomy to remove the thymus gland, which is located in the chest, under the breastbone. This may put patients into clinical remission or reduce the amount of immunosuppressive medication they need.
For patients with refractory disease, an immune-modulating drug called Rituximab can help. Eculizumab, a targeted treatment for myasthenia gravis patients who have a specific antibody, has recently been approved for very refractory cases, Thawani notes. Even newer-wave targeted therapies are awaiting Food and Drug Administration approval.
Patients with myasthenia can take steps to improve their outcomes, Thawani says. That includes getting their bone density checked regularly if they’re on chronic steroids, and also using vitamin D and calcium supplements, as well as exercising (but not overdoing it), maintaining a normal body mass index and not smoking. Fatigue is common in MG and addressing mental health is also important.
For women who want to become pregnant, doctors can adjust their medications to avoid immune-suppressants that can harm the fetus, Thawani says. “We do this often, so they can safely have children.”
The joint disease — which affects up to 1% of the population, predominantly women — can raise the risk for heart disease and lung disease. Based on research to date, having RA may decrease life expectancy by a decade or more.
RA is one of a number of autoimmune disorders called rheumatic diseases, or musculoskeletal conditions marked by inflammation. Most rheumatic diseases have a decreased life expectancy and increased mortality, Sanz says. “That is very well-documented for rheumatoid arthritis, it’s well-documented for lupus (and) it’s clear for vasculitis.”
However, as with other autoimmune diseases, life span varies greatly with RA by the individual, and proper management of the disease can improve a person’s outlook. Treatment often includes the use of immunosuppressive anti-rheumatic drugs, or DMARDs, and self-care for arthritis symptoms such as using a heating pad and pain relievers to ease joint discomfort.
Just as rheumatoid arthritis can impact health well beyond inflaming joints, psoriasis is more than a skin disease. The autoimmune disorder is also associated with other serious issues, including an increased risk of diabetes, depression and heart disease.
As a result, depending on the severity of psoriasis, it may affect life expectancy and raise mortality risk. For that reason, experts say, patients and their doctors should discuss not only topical treatment to address scaly patches of skin, but if and when immunosuppressive therapy might be warranted.
Thick, tight, hardened skin is just part of the damage from scleroderma, an autoimmune disease that can also impact connective tissue and internal organs. Scleroderma is considered fairly rare, affecting an estimated 75,000 to 100,000 people in the U.S. — in most cases, women between the ages of 30 and 50 — according to the American College of Rheumatology.
Localized scleroderma mainly affects the skin. With systemic scleroderma, scarring and inflammation can cause permanent damage to the kidneys, lungs, digestive system and other parts of the body.
“Many autoimmune diseases affect quality of life but not so much life expectancy,” says Dr. John Varga, a distinguished professor of internal medicine and chief of the rheumatology division at University of Michigan. “Scleroderma causes scarring in the lungs and scarring of the blood vessels, and both of those are leading causes of death. So when that happens, which it does in a lot of patients, their life expectancy is pretty significantly affected.”
Survival estimates vary. For severe scleroderma, five-year survival rates range from about 75% to 80% but decrease significantly with each decade after diagnosis. For patients with localized disease, five-year survival is estimated at about 90%.
For scleroderma, treatments are aimed at improving symptoms like impaired circulation and at controlling complications such as kidney disease and pulmonary arterial hypertension, or high blood pressure in blood vessels of the lungs. The FDA approved the first treatment to treat scleroderma-related lung disease in 2019, and a second drug in early 2021.
It’s essential for patients to find specialized centers to develop treatment plans — incorporating advances like personalized therapies — for autoimmune conditions like scleroderma.
Some less-informed doctors may take a fatalistic approach to severe systemic cases, Varga says. “They say, ‘Well, (patients) have scleroderma, there’s nothing we can do; there’s no treatment.’ And that’s not true anymore. There are treatments. They are not great treatments but they certainly make a difference. So being very proactive and aggressive in treating it, and going to the right center where there’s expertise to treat it is important.”
Ongoing research for severe scleroderma is also essential. “There’s a lot of momentum in the research area to develop new drugs, so the picture is really changing in the last five years for the outcome,” Varga says. “It’s looking better but we still have a ways to go.”
Some autoimmune conditions that may affect life expectancy:
— Autoimmune myocarditis.
— Multiple sclerosis.
— Type 1 diabetes.
— Myasthenia gravis.
— Rheumatoid arthritis.
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Update 08/30/21: This story was previously published at an earlier date and has been updated with new information.