A rheumatic disease is one that usually, but not always, affects the joints and connective tissues of the musculoskeletal system. More than 200 rheumatic diseases have been identified, and each can have a distinct impact that varies from person to person. Many are chronic and progress over time, making it harder for those affected to do daily activities. Some cause episodic flare-ups of pain and stiffness within specific body areas, while others can impact internal organs.
Because symptoms can be general and are not always easily noticeable, rheumatic diseases are notoriously hard to recognize. What causes a rheumatic disease is also not always well understood. Many are immune-related, triggered by the immune system’s overreaction to a perceived threat. Some rheumatic diseases also have a genetic component.
Johnson & Johnson is working on investigating therapies in this area to help improve the health and quality of life for people diagnosed with a rheumatic disease—and some recent breakthroughs hold even more promise.
“During my career, I’ve seen the treatments for rheumatic diseases evolve to today’s pathway-centric approach, which allows us to treat more patients across a broader spectrum of diseases,” explains Terence Rooney, M.D., Vice President and Rheumatology Disease Area Stronghold Leader at Johnson & Johnson Innovative Medicine. “Looking ahead, we continue to see the prospect of positive impact. For example, recent studies have shown the potential of investigational therapies across multiple autoantibody-related diseases.”
Here’s what to know about rheumatic diseases, including the most common symptoms, causes and innovative therapies.
What are the symptoms of rheumatic disease?
Though pain, stiffness and swelling of joints and related tissues are the main features, more specific aspects depend on the exact disease.
Rheumatoid arthritis (RA) is the most common type of inflammatory rheumatic disease, affecting 18 million people worldwide. RA is a chronic condition that causes the immune system to attack the lining of the joints, known as synovial tissue, says Dr. Rooney. As a result, people with RA experience not only flare-ups of pain, stiffness and swelling, but also permanent structural joint damage and deformity.
Psoriatic arthritis (PsA) affects the joints and entheses, where tendons and ligaments attach to bones. Like RA, it causes episodes of pain, swelling and potentially permanent damage to joints—but symptoms also include scaly patches on the skin, nail changes and eye inflammation.
Ankylosing spondylitis leads to inflammation in the joints and ligaments, including in particular those of the spine, to the point where those bones can fuse together, which is “extremely limiting,” says Dr. Rooney. “Imagine not being able to bend over or move your head back and forth.”
Not all rheumatic diseases necessarily directly affect the joints in a given individual. Lupus impacts multiple parts of the body, including the kidneys, lungs, skin, blood cells and even the brain. Therefore, signs of lupus can vary widely. Typically, a person with lupus will experience flare-ups alternating with periods of quieter disease.
Sjögren’s disease also targets tissues beyond the joints. This disorder typically features an immune attack on exocrine glands, which produce tears, saliva, sweat and digestive and other fluids. “Dryness is a key feature of Sjögren’s,” says Dr. Rooney. “Dry eyes and mouth can adversely impact everyone, and for women—who are the vast majority of Sjögren’s patients—vaginal dryness can also be a significant problem, including for sexual health.” Other symptoms include fatigue, plus numbness and tingling in the extremities.
What causes a rheumatic disease?
Many rheumatic diseases—including RA, PsA, lupus, ankylosing spondylitis and Sjögren’s disease—are autoimmune, which means they are the result of a person’s immune system mistakenly going on the offense against healthy tissue.
“The immune system enables the body to fight harmful germs that it encounters,” explains Dr. Rooney. “But sometimes, the immune system doesn’t switch out of attack mode when a threat is gone and instead starts to go after healthy tissues and cells.” Scientists aren’t yet exactly sure why the immune system sometimes behaves in this way, but in recent years much progress has been made toward deepening this understanding.
Not all rheumatic diseases are autoimmune. Osteoarthritis, for example, occurs when the tissues in joints break down, in part due to wear and tear, says Dr. Rooney. Sports and other activities involving repeated joint injury can be a cause, but it’s not just athletes who develop osteoarthritis. The condition will impact most of us to some extent as we age, and it can be genetic in some people.
Who’s most at risk for rheumatic disease?
Anyone can develop a rheumatic disease. Some of the conditions are genetic and therefore run in families, and some groups may be more affected by different diseases than others—though it’s not always clear why.
“Almost without exception, autoimmune rheumatic disease can affect anyone, irrespective of sex, age, your family, genetic background and where you are in the world,” says Dr. Rooney. “However, there are patterns when it comes to the demographics of specific conditions.”
Women, for instance, are about nine times more likely to have lupus than men, and Black women are more at risk than white women. Women are also more likely to experience RA (especially as they age) and Sjögren’s disease. PsA, on the other hand, affects men and women equally.
Diagnosing rheumatic disease
People who are experiencing pain or stiffness in joints or surrounding tissues should see their primary care provider, who can help rule out other causes and get a better idea of whether a rheumatic disease is behind these symptoms.
If the primary care provider suspects this is the case, the next step is often to see a specialist in rheumatic disease. These specialists may arrange lab tests, imaging tests and even biopsies to help make an accurate diagnosis.
How are rheumatic diseases treated?
Treatment options vary depending on the type of disease and how far it has progressed, but options may include everything from lifestyle changes like getting more rest or exercise to taking medication that targets the immune system.
Since the 1990s, Johnson & Johnson has been developing advanced treatments for rheumatic conditions. The first immune-targeted therapies the company developed for inflammatory rheumatic disease are known as anti-tumor necrosis factor (anti-TNF) therapies. These are engineered to specifically target this key molecular pathway that drives diseases like RA, PsA and ankylosing spondylitis, says Dr. Rooney.
Another class of medications has since been developed to treat immune disorders by targeting a different pathway to a molecule called IL-23. This pathway is also involved in driving overactive immune responses, and the associated treatments have the potential to help patients with PsA, he says.
Johnson & Johnson is currently also researching investigational therapies for lupus and Sjögren’s disease. Indeed, a recent clinical trial showed positive results for an investigational therapy to potentially treat Sjögren’s. While he calls these results “exciting,” Dr. Rooney says there’s still much work to do to improve outcomes for patients with rheumatic disease, which can be debilitating.
“We’re investing our brainpower, our time, our effort and the work of our scientists and other colleagues in developing new solutions for people who suffer across the spectrum of inflammatory rheumatic diseases,” he says.
