Q&A: What makes autoimmune diseases so difficult to manage?
Illustration by Sara Montes Delgadillo.
Note: This interview was originally published in Doing Well, a health news outlet from ASU Media Enterprise and ASU Learning Enterprise. Subscribe to Doing Well to get interviews with health experts delivered to your inbox weekly.
My grandfather lived with multiple sclerosis, and two of my family members are navigating life with systemic lupus erythematosus and Crohn’s disease. Because of them, I’ve seen firsthand how difficult and unpredictable autoimmune diseases can be.
It is estimated that up to 8% of Americans live with one of more than 100 autoimmune diseases, which occur when the immune system — normally tasked with fighting off bacteria and viruses — mistakenly attacks the body’s own cells. Symptoms often include inflammation, pain and fatigue, but they can vary widely and come and go, making diagnosis especially difficult. Patients may find themselves ping-ponged between doctors, frustrated, and still without answers.
I spoke to Dr. Sherine Gabriel — a rheumatologist, the executive vice president of ASU Health and the former president of the American College of Rheumatology. We explored why diagnosing autoimmune diseases can be so complicated and the importance of advocating for yourself.
Short on time? Here’s what to know:
Autoimmune diseases occur when the body’s defense system mistakenly attacks healthy tissue instead of invaders like viruses or bacteria.
Conditions like rheumatoid arthritis aren’t just about joints — they’re systemic, impacting organs throughout the whole body including the heart, lungs, kidneys and more.
Newer autoimmune disease treatments work by preventing disease progression and thereby permanent organ damage, so early diagnosis is critical. This can mean the difference between living a largely normal life and having significant disability.
If you have symptoms that tend to come and go, start keeping a log of when they appear, how long they last, how often they occur, and how severe the pain or discomfort is. If your symptoms point to an autoimmune disease, having this information on hand can make it easier for your care team to connect the dots and get you answers faster.
Note: The below Q&A has been edited for clarity and length.
Question: "Autoimmune disease" is a broad term that covers many different conditions. For those who aren’t familiar, can you walk us through what “autoimmune” means and how conditions like rheumatoid arthritis and lupus differ in how they show up or progress?
Answer: An autoimmune (disease), very simply, is when the body’s defense systems — the systems that we all have to protect against viruses or bacteria that enter the body — instead of attacking something foreign like a virus, start attacking normal tissue. It’s sort of a mistake in the functioning of the immune system.
These conditions are difficult to manage and diagnose because they show up in insidious ways — a sore knee, a sore wrist, a rash after somebody’s been out in the sun. It’s really hard to know sometimes whether this is just something passing — maybe I twisted my knee or was in the sun too long — or if it’s something persistent. That’s why it’s really important to monitor the symptoms.
Q: You mentioned that these cells attack healthy tissues. How does that impact which autoimmune condition you might get?
A: It’s probably genetically determined. It’s important to remember that autoimmune conditions like (Type 1) diabetes, rheumatoid arthritis (RA), (and) inflammatory bowel disease can occur in children, as well as adults. We don’t really know why. It’s almost certainly genetically determined in one way or another. Your genetic makeup might make it more likely that you would get lupus as opposed to RA, or that you’d get inflammatory bowel disease, or that it doesn’t happen at all.
Q: Like you mentioned, autoimmune diseases can take a long time to diagnose. On average, after symptoms start appearing, it takes four years to get a diagnosis. What makes diagnosis so challenging, and what signs should patients and providers be aware of?
A: It’s honestly one of the most challenging things about these conditions, because as I mentioned, the initial symptoms are commonplace. We’ve all twisted our knee and had a sore knee for a couple of days, or we’ve all occasionally had a sore joint, had rashes. But when these things occur repeatedly, together, and really don’t go away, and when they are accompanied with systemic symptoms — fatigue, fever, just really not feeling well — that’s when you need to see a doctor.
One of the challenges is because autoimmune diseases are pretty rare, a lot of primary care doctors aren’t really well versed in these conditions. So, ideally, patients should try to educate themselves, pay attention to their symptoms. If these symptoms just don’t seem quite right, it’s time to see somebody. And if you’re not getting what you need from your primary care doc ... ask to see a rheumatologist. A rheumatologist is a physician who specializes in autoimmune and rheumatic diseases.
You want to get the diagnosis as soon as possible, because we have now — which we didn’t have decades ago — some new treatments that are highly effective. But they are optimally effective — in many cases, only effective — if the treatment happens early.
After years and years, in something like rheumatoid arthritis, once there is joint deformity, which can happen with advanced RA, you really can’t reverse that. But early on, when the inflammatory disease is active and patients are symptomatic, but it hasn’t quite yet caused the damage that we see in later disease, you can reverse it. It can really make the difference between leading a pretty normal life with medications managing this condition, to being disabled. So it really is important to get the diagnosis early.
Q: You’ve studied the relationship between cardiovascular disease and inflammation, specifically with rheumatoid arthritis. How are the two connected?
A: When you think of somebody with rheumatoid arthritis, most people think of joint swelling, pain and joint deformity. But it’s important to remember that the disease is a systemic disease, meaning it’s in your entire system. It’s in your bloodstream. The most visible manifestation is the joints — people see that. But as we studied these conditions and as we looked at patients with these conditions, we found that it affects the heart, the lungs, the kidneys, multiple organs. The challenging thing is that heart disease in people with rheumatoid arthritis presents differently and sometimes behaves differently than garden-variety heart disease.
We’ve also learned that inflammation is a key cause of cardiovascular disease. So if inflammation is a serious and a primary cause of cardiovascular disease and people with RA have way more inflammation than the average person, then it’s not a surprise that people with rheumatoid arthritis have more heart disease.
The treatment is different because in people with RA, what’s giving them heart disease (is) all this inflammation due to RA. So you need to aggressively treat the RA, bring down the inflammation as much as possible, and then see what you can do about their cholesterol and the usual things that we do for cardiovascular disease. In many places, there are collaborations between rheumatologists and cardiologists to create a special clinic for people with autoimmune diseases, to monitor them, so that we can pick these things up early and treat them.
Q: What advice would you give to patients who are navigating these very complex and chronic lifelong autoimmune diseases, especially as they try to navigate our very complex health care system?
A: Honestly, the most important thing is finding a rheumatologist because those are the specialists who really and truly understand the systemic nature of the disease.
Q: What inspired you to become a rheumatologist?
A: Because it’s a chronic illness, you actually form long-lasting relationships with patients. As opposed to infectious disease — somebody comes in with an infection, you find the right antibiotic, you treat them, they’re on their way. I liked the idea of forming lasting relationships with people and helping them navigate their lives with this illness.
The other part that was appealing is the science. It’s just so much of a black box. Why is it that these immune cells that are designed to kill bacteria and viruses all of a sudden get mixed up and start attacking joint tissue or heart tissue or something else? I just found that fascinating. I wanted to study and see if I can impact it in any way.
Q: You have been a mentor to countless clinicians and researchers. What do you tell the next generation about the most meaningful ways to improve health outcomes for people living with autoimmune diseases?
A: I think you cannot beat early diagnosis and early treatment, so try to find ways to screen patients as early as possible, treat patients as early as possible. Keep up to date on the new treatment modalities, the new drugs called biologics. They’re injectable drugs. They changed the course of the disease entirely to help someone (lead an) essentially normal life. That’s really dramatic. But you have to catch it early.