The Detective Work of Autoimmune Disease

Angela Crowley, MD, is up-front about it. Accurately diagnosing an autoimmune disease can be tricky.

UVA rheumatologist Angela Crowley finds autoimmune diseases fascinating.
UVA rheumatologist Angela Crowley, MD, finds autoimmune diseases fascinating.

“People on average see six doctors over a period of 4 years before they get a diagnosis.”

This is because, in general, autoimmune diseases tend to arrive unpredictably, disguised as other conditions, offering only confusing clues as to what they are.

Why Are Autoimmune Diseases So Mysterious?

One reason is that the list of what’s considered to be autoimmune is long and ranges from the very common to the extremely rare.

Did you know? The following are all autoimmune diseases:

  • Celiac disease
  • Diabetes type 1
  • Multiple sclerosis (MS)
  • Psoriasis
  • Inflammatory bowel disease

While very different, all these disorders have one thing in common: They occur when a person’s immune system decides to attack healthy body cells. Instead of fighting infection with antibodies, the body produces autoantibodies. The body is essentially fighting itself.

Where and how this self-attack occurs determines the disease and its symptoms. But the occurrence of these symptoms is not simple, clear or predictable. Other situations make diagnosis problematic:

Asymptomatic or Delayed Symptoms. You can have osteoporosis, for example, and have no symptoms at all — only getting diagnosed after a bone fracture. Or with ankylosing spondylitis, the average diagnosis timeframe is 10 years — about how long it takes for the condition to be visible on an X-ray.

Common symptoms. Or you could have severe joint pain as a result of any number of autoimmune diseases, but lack any other symptoms to help doctors determine exactly which one you have. Vasculitis, for instance, is systemic, which means, along with causing inflammation of blood vessels, it can cause pain anywhere and everywhere in your body.

Co-Conditions. Your celiac disease or Grave’s disease could lead to or just show up with rheumatoid arthritis; having both means one condition can mask the other.

Misconceptions. You might be in pain and avoid seeing a doctor. “People ignore their pain, thinking they are too young to have arthritis, which isn’t true,” says Dr. Crowley. “It can happen to kids. Rheumatoid arthritis and osteoarthritis are two different things.”

Mimics. Dozens of diseases can look like MS, for instance, from lupus to other neurological conditions. And it takes time to rule out.

Uniqueness. Lupus in one person can show up with a set of symptoms completely different than the ones that show up in another person. Doctors can’t rely on symptoms alone to determine the nature of the affecting disease.

Diagnosing Autoimmune Disease

Varied, numerous and inherently elusive, the diagnosis of autoimmune disease can be tough detective work.

But what might seem daunting to others is precisely why Crowley became a rheumatologist. “I find it to be fascinating. Everyone is different, so I’m surprised and challenged daily. It’s really rewarding to be able to identify a rare disease and to be finally able to give a patient an answer to symptoms and something that can help them. Or to find a rare presentation of a common disease.”

So how does one diagnose if you can’t count on symptoms entirely?

Myth vs. Fact: Celiac Disease

The proliferation of gluten-free options at restaurants and grocery stores might look like just another trend. But celiac disease is a serious autoimmune disease. And though sometimes treated as such, it is not an allergy one can grow out of or ignore. If a person with celiac disease ingests gluten, she can trigger a number of symptoms, not all stomach-related; over time, eating gluten can give rise to more autoimmune diseases.

Diagnostic tests include, but are not limited to:

  • Antinuclear antibody (ANA) test—the presence of autoantibodies does not automatically mean you have an autoimmune disease, but a high level can indicate lupus, scleroderma, juvenile arthritis, others
  • Comprehensive metabolic panel
  • Tests associated with inflammation and arthritis
  • Urinalysis

Rheumatoid arthritis I can usually diagnose in the first visit; it’s normally straightforward.” Which is good, since it’s very important to be diagnosed early. “The earlier we can treat it, the more likely it is that it will be easier to treat later on and you won’t need as much medication.”

Which is why Crowley is excited about the advances being made in the field.

The latest? “We have a new imaging technique, a new type of CT scan, to diagnose gout. We’ve never been able to do it with imaging before. I’ve had patients who didn’t know it was gout until we used this technique. To diagnose gout you have to look at joint fluid and see gout crystals, but there’s not always a big collection of joint fluid to examine. Or you can look at uric acid, but some people have high levels of uric acid and no gout. You might suspect, from the symptoms and the blood tests, that the person has rheumatoid arthritis. Which is a problem, as rheumatoid arthritis and gout require very different treatments.”

But with the dual-energy 3D CT scan, diagnosis is straightforward. “The gout crystals look green. Fun pictures,” adds Crowley.

Flares & Triggers: Autoimmune Disease

While an ultimate cause for autoimmune disease remains unknown, research has shown that:

  • People can have a genetic propensity for an autoimmune disease
  • A trigger can activate or turn on the gene
  • Suspected triggers include environmental, chemical, sunlight, stress, drugs and infection factors
  • These triggers can cause a disease to “flare” up
  • These disorders can appear at any and all ages, making it difficult to pinpoint exact causes

Another thing is clear to Crowley and others in the field. “In the last two decades, we’ve seen a significant increase in autoimmune diseases, and a lot of experts think it’s the environment.”

Specific research has shown that tobacco use can turn on these genes, and gum disease can turn on rheumatoid arthritis genes.

But as with most aspects of autoimmune disease, these are hints, not answers. “We suspect it’s not just one thing, not one sole cause.”

No Quick Fixes: Treatments and Hope

There are no known cures for autoimmune diseases. Rheumatologists look to medications, supplements and physical therapy for the relief of symptoms and suppression of the immune system.

Crowley says that’s no reason to lose hope. “There is a lot of good research going. We have a lot of great treatment options. One hot topic in research is trying to predict the right treatment for each person. We have to do trial and error to see what can put someone in remission, but with more knowledge about disease features and genetics, we can narrow down the options and go straight to the most appropriate medicine right away.”

Stress and Self-Care

Along with medication, Crowley advises her patients to practice good self-care. She knows living with an autoimmune disease can be stressful. “People break down into tears in my office at least once a day,” she says.

But stress can make symptoms worse. “People get flared up when stressed, so I tell people we can’t fix the situations, but we can control the response. Good sleep and exercise are things we can work on. Tai chi and yoga are good for the body and mind (and there’s free videos for these on YouTube),” and can help manage symptoms. She also checks patients’ vitamin D levels, which are important for bones and the immune system.

Open for Business: UVA Rheumatology on Pantops

You can visit Crowley at her office on Pantops, where there’s plenty of free parking and friendly staff. View clinic directions, hours, contact info.

And while there aren’t published studies showing that diet benefits autoimmune diseases, she does see that diets can affect individuals, some of whom find that removing gluten, dairy, meat, sugars, fats and artificial ingredients help.

Even without a cure, Crowley finds her work rewarding. “We can put someone in remission and take them from not being able to do much of anything to being able to return to work and play ball with their kids. I get to develop relationships with people. It’s a team approach between us and our patients.”

And because an autoimmune disease can affect various parts of the body, Crowley also teams up with doctors in other fields. She doesn’t just treat one thing, she says. “We treat the person as a whole.”

Do You Have an Autoimmune Disease?

It’s hard to know without the care of a specialist like Crowley. If you have inflammation, joint pain or other vague symptoms, see your primary care physician for a referral.

Comments (23)

  1. Auto-immune disease is such a big traitor. I’ve been seeing patients with Guillain Barre Syndrome and Multiple Sclerosis, and I can’t stand to see them go through life having disabilities and limitations.
    The need for research funding should be implemented to limit the occurrence of this disease. It is really crippling.

  2. Kendra says:

    Two years ago I presented with scleritis in the right eye. My opthamologist had a full work-up of tests done including CT and ANA tests to try and find the cause. Everything came back negative. While being treated for my eye, I began to have other symptoms and kept a log of them to take to my primary care provider. Those symptoms included exhaustion, fever, joint swelling and pain, muscle pain, rash on my arms and legs and another rash across my face which darkens or lightens in color. I was again tested for Lupus and RA but tests came back negative again. Since all of that I cant go anywhere without sunglasses as sunlight and bright light in general hurts my eyes. The rash on my face is still there and fever and muscle and joint pain and swelling come and go. What I am wondering is if its possible to have an autoimmune disease with negative blood tests and if not where can I go to get answers if my primary cant help me? I am a mother of three little girls and it would be amazing to have my energy back. Thank you.

    • Amy Sarah Marshall says:

      Dr. Crowley replies:
      I’m sorry you aren’t feeling well. There are many autoimmune diseases
      which can be associated with scleritis and it is absolutely possible to
      have certain autoimmune diseases and have a negative blood test. It
      certainly makes sense for you to make an appointment with a
      rheumatologist as soon as possible or ask your PCP for a referral.

      • Kendra says:

        Thank you for the information. I have one more question for you. What is your opinion on the possible link between the Epstein-Barr Virus and Lupus? Do you think that its a possibility? I stumbled across an article about it two years ago while researching autoimmune diseases. I only ask because I had a bad case of mono as a young adult and am now a carrier of EBV. Thank you so much for your insight.

  3. Nafrat says:

    I am disabled from two work reatled injuries, got hit with the worst RA one can have it is killing me, I can’t afford to go to a dentist must less a holistic one, I did call about one months ago but he is a long way for me. With my spine problems I am not sure how I’d get there much less pay for it. I have 2 maybe 3 root canals. Is there any free help out there? I’d been on all sorts of med’s but got off them all including my enbrel shots of twice a week methotrexate for RA

  4. Jackie says:

    Nafrat, if you have no dental coverage with your health coverage for disability, I know some dental schools offer free or sliding scale care if they take you as a patient. It’s worth a shot. In my state there is apple health care / medicaid that offers some dental care for people with disabilities. But the clinics that accept is were so bad I just try to pay out of pocket at decent places offering deals. The one place I wouldn’t be afraid to go was the UW dental school, they accept medicaid but only accept patients with conditions their students will find useful. It’s worth a shot to try a dental school. At least it will be clean and the students will all be supervised – better than many places with little oversight.

  5. Cloie says:

    After a month of exhaustion greater than I usually feel, which is a lot on a good day, joint pain, lack of appetite, throat pain, extreme bouts with raynauds and weakness, I saw the dr. My Ana came back speckled pattern with high levels. I am seeing a rheumatologist next week because it is strongly suspected I have systemic sclerosis. I have had MANY of the symptoms for years. The last “episode” i had went on for several weeks immediately following a highly contentious court appearance for custody issues with my ex husband. I just had to do the court thing again 4 days ago and I just can’t move. Same symptoms as last time…..just as severe. Could the court dates and stress be causing these episodes for weeks like this? Is there that much immediate cause and effect with autoimmune disease?

  6. C. Witherell says:

    I have a scalp psoriasis and in April the Dr. gave me a topical solution of Clobetasol Propionate. It just dawned on me that I started applying this as needed the beginning of May and by the end of May I was in a full blown flare with what I presume is IBS. I have scheduled several Dr. appts. to investigate this. Eliminating dairy and flour has (I believe) tamed down the flare tremendously. However, my question is this……if you control the “flare” of one autoimmune condition, (my scalp) does your body just adjust and flare up somewhere else in some other condition?

  7. olive says:

    HI, doc. i have a child 8 years old diagnosed with rheumatoid arthritis, she has severe pain that starts from the toes , fingers shoulders and of late cthe pain are also on her back . What do i do to help this child get off the pains . This has led to irregular school attendance.

  8. Janelle says:

    I simply do not understand why it would take 4 years for a diagnosis with diseases like lupus, sjogren’s, MS, etc….That’s way too long for someone to suffer and miss out on life, work and so forth. You wrote in a comment above that people can have an autoimmune disease yet have negative test results. So, basically what happens is one goes to a specialist who orders the tests, they come up negative and the patient is sent home. It seems more and more that test results are given more importance than the patient’s symptoms and suffering. Four years or more for a diagnosis? That seems horrific to me. I know that much of medicine is trial and error, but this seems like more error than trial. This is all very disappointing and also frightening at the same time.

  9. Barbara says:

    I thank you for info. Have had chronic dry eye for five year. Between having plugs lips flow vision impairment I now wear scleral lenses I recieve from Duke. I have been to many docto and rheumatologist. They have tested me for every thing possible In 1999 I lost fifty pounds and was very sick I had the damage the celiac presents but test negative. Five years later I started gf diet and did feel better. I was tested and tested since my eyes started getting dry. I keep on going need my job. Whether they ever find anything out or not I know that the cure ain’t there. The treatment for dry eye is pretty generic. I had lesions on my eyes that at times hurt so much I wanted to cry. I stayed tough and still work. I thank God for giving me a tough gene. I went to a rheumatologist a couple years ago and he gave me plaqenil 200 mg once daily. After a year he asked me how I felt and nothing is going to heal my eye help discomfort when contacts out but that is about it It did help my OA a lot. Long store short doctor took me off plaqenil because he said it doesn’t help OA and he didn’t want to take responsibility. Me time I was diagnosed with morphea. In remission tight now. After two months of no plaquinelarthritis horrible. Found a new rheumatologist and she put me back on plaqenil and seems interested in helping me get comfortable. I don’t do pain meds. I do treadmill seven days a week thirty minutes and swim. I hope it keeps me going. I sixty.years old and have too much living to stop. Good to vent though. Don’t vent to family mom is tough

  10. Barbara niblock says:

    Thank you

  11. Heidi Mellor says:

    I’am a type 1 diabetic with an insulin pump and I’ve had it for 20 years. I delivered my baby 5 1/2 years ago I’ve gone down hill and I’ve developed a lot of autoimmune diseases. I see a rheumatologist for RA and Lupus (because there not sure which one I have so they just started calling it mixed Connective Tissue Disorder.). I have hychmotos thyroid disease. I was just diagnosed with Celaics Disease. I have autoimmune hives (forget the name). I’ve been called the autoimmune nightmare! Anyway, I need help!! I see a lot of specialists, but they don’t communicate. I want to start see an internist–1 doctor who is like my primary and communicates with the specialist. I’am not getting better. Just spent 4 days in hospital hooked up to fluids,antibodics for pneumonia and dilaudid for all my joint pain! I want to a better life…..I can’t even sit on the ground and play games with my 5 year old! Hel!!’

  12. Michelle says:

    My 13 year old son was dx with Celiac at age 7. At that time, he was anemic and had severe beaus lines on his thumbnails and big toes. After being gf, they went away, his hemoglobin normalized, and his Ttg was negative. Last summer, the beaus lines starts reappearing, he started vomiting, constant nausea and abdominal pain, he was slightly anemic and his Ttg was slightly elevated. His DGP was negative however. We have a gf house as we have 3 celiacs, and he is extremely paranoid about what he eats, so I know he wasn’t sneaking it. We tried to wait it out, three months later he was worse, and Ttg had gone up a few points. Have done ultrasound, xrays, hida scan, endoscopy and colonoscopy. No sign of active celiac. Negative Calprotectin and CRP. Beaus lines are very deep and prominent. He can not keep solid food down and has been living on Ensure for months. Has dropped from 65% in growth chart to 25% and has list about 15 lbs. GI VERY reluctantly agreed to do an MRE and pill cam to make sure Crohns is not in the small bowel, but does not think it will show anything. If not, he said he can’t help us and thinks it is just anxiety, which is does have severe anxiety and depression…all of which was there when he was dx celiac, and then went away, and now came back when he got sick again. I know anxiety didn’t cause the beaus lines or elevated ttg or anemia. We are at UVA…if the GI dumps us- where do we go next for answers?

  13. Rachael says:

    I Have chronic joint pain along with cluster headaches and muscle aches and weakness… extreme fatigue as well as blurry vision… it has been going on for almost 2 years with no diagnoses… 2 ADA tests both negative… any ideas?

  14. Cynthia says:

    I have seen two rheumatologists in Seattle in less than one year. I was told that a rheumatologist is the doctor who will treat me systemically and track all the other doctors I have needed to see. So far I have about the same peace of mind I had before I saw these two doctors – about zero. They do not plan to do anything for me, they just want me to see them once a year. I cannot afford to fly to Virginia to take a chance Dr. Crowley is truly any better. My symptoms are real, but our health care is very poor in this country.

    • Amy Sarah Marshall says:

      Hi Cynthia, We’re sorry to hear about your experiences. Autoimmune diseases can indeed be challenging. We wish you the best!

  15. Pamela says:

    I’m a 54 year old female and have had positive tests for autoimmune disease.
    I have had symptoms for years and thought the pain come from my osteoarthritis.
    The pain in my joints have gotten worse.
    I have muscle pains that occur in different parts of my body at different times.
    I have trimmers that happen to my muscles when I’m sitting still.that are painless but just twitch.
    I have issues with constipation sometimes and other times I barely make it to the restroom in time.
    I swear all the time and I’m stressed weak and extreamy tired.
    Dont like going out of the house and its getting harder and harder to take care of myself.
    They cannot pinpoint what kind of autoimmune deficiency I have. But they are treating me with 200 mlg of Plaquenil
    Twice a day.
    I do feel somewhat better but still no energy still have pain tho sometime it is more dull
    I get dizzy and am hot all the time.
    I still feel like I don’t have a life.
    Is anyone with symptoms like mine been diagnosed. Yet
    I’m hoping they find out what it is soon
    Before its to late.
    I raise my two grand twins who are 3 and need me.
    I’m hoping to be treated before this disease hurts me so bad I can’t recover

    • Amy Sarah Marshall says:

      Pamela, Thanks for sharing your story, though it sounds like such a painful one. We hope you get your diagnosis and some treatment soon!

  16. kerry wilson says:

    For 2 years i have been seeing a rheumatology specialist and was told today because he can’t see any inflammation he thinks i am just suffering from normal aches and pains! It is so frustrating that i can’t get a diagnosis. Every few months a new joint will become sore and painful, whatever it is i now have it in the joints at the side of my feet both right and left, my big toes, my thumb joints, wrists and more recently my first finger knuckles all right and left, exactly the same place. Also severe dryness of mouth and eyes. Surely there is some other test that can be done?? I am 37 and have a 3 year old, it’s quite scary thinking if this carries on I won’t be able to look after him properly, i feel like its just going to travel to all my joints and nobody is doing anything about it. And suggestions about what i can do next would be appreciated.

  17. Marianne Arnell says:

    I had classic RA symptoms tested positive for RF highest19 ANA CCP positive but it really high numbers. Started in hands stiff in am for one hour hard time using them until the loosened up. Also just recovered from Planters Facitisis. Shortly After diagnosis,the pain went into foot tendonsand it hurt so bad to wak. Was started on Planquel 2x a day. Was on for almost a year, labs for RA came back normal but same amount of pain infeet. Rhuematologisst reduced medications one pe day within 2 weeks pain became worse moved into joints. Went back up on medication It stopped working. Been off all RA medication despite the pain and swelling it now my joints, especially middle knuckle, if I do work all day clean my house work outside I can barley move the next dy so many joints are involved depending if I use them, today hands hurt swollen knuckles feet, knees ankles wrist, legs weak, neck and back but I did lay carpet for 2 days but it was not that strenuous. I feel like I was hit by a truck. Rheumatologist seems to dismiss my pain. It is real and has taken all that I enjoy in life away, as I was a very physically active person which helped with severe depression. I see a Rheumatologist, therapist, Primary Care Doctor Pyschiatrist. I cannot live like this, it’s torture. If I take steriods for flares or the inflammation it gets in down but I become suicidal.

    • Amy Sarah Marshall says:

      Marianne, it sounds like you’ve been through so much. Thank you for sharing your story. Auto-immune disease is so tricky and difficult, on top of causing pain. We wish it weren’t so!

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