The Detective Work of Autoimmune Disease

detectiveArticle Written by Amy Sarah Marshall 
October 31, 2014
blog.UVAHealth.com

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

“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.

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.

Source Article
Article Written by Amy Sarah Marshall, UVA Health
October 31, 2014

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