Autoimmune Antibodies Testing

Recently I learned that a close family member tested positive for a rare auto-antibody. An autoantibody is an antibody created by the immune system that is directed back at one (or more) of the individual’s proteins. Many autoimmune diseases are caused or influenced by auto-antibodies. In my relative’s case, this genetic quirk means they are at greater risk of a group of rare autoimmune conditions, such as a disease that attacks the lungs.

With my severe case of rheumatoid arthritis and other autoimmune challenges, it seemed like a good idea for me to get tested. First, I believe there is a genetic component to my illness because autoimmune diseases run in the family. And second, I think it’s helpful to know possible risks so that I can monitor for symptoms of any new conditions and get immediate attention should they make an unwelcome appearance.

Testing for autoimmune antibodies

With these points in mind, I wrote to my doctor and asked to be tested because of my relative’s positive result. The doctor ordered an “ANA Comprehensive Panel” to test for a number of autoantibodies. The tests included auto-antibodies related to connective tissue diseases, Sjogren’s Syndrome, Lupus, skin diseases, and others.

While I was expecting several positive results (what a negative thinker I can be!), I was surprised that all of these specific auto-antibodies came back with a negative result. I was so glad that I asked, was tested, and now have this knowledge. It was just a part of my regular blood draw and the results came back within a few days.

Seronegative RA

Since I was diagnosed a long time ago, these tests were not a part of the process. In fact, I was only tested last year for rheumatoid factor because my rheumatologist was curious and I didn’t have any record of being tested. I’m one of the rare cases where I have a severe case of rheumatoid arthritis yet came back seronegative.

It’s an interesting question that Richard, my husband, posed: If a doctor just saw these blood test results would they even consider a diagnosis of rheumatoid arthritis? We don’t know because my joints so obviously are deformed from inflammation and decades of aggressive disease. But it is curious that I test negative for these indicators that are often used during diagnosis.

Sometimes I think my case is caused by a rare gene or autoimmune outlier. My hope for the future is that precision medicine will someday identify the magic trigger so that we can understand my specific case of RA better.

The recent research that indicates involvement of the interleukin-6 (IL-6) protein in juvenile idiopathic arthritis (or juvenile rheumatoid arthritis), like I was diagnosed with at age two, suggests we’re getting closer to understanding specific RA variants. In fact, new research on drugs targeting IL-6 in JIA patients shows great results in blocking this protein and reducing symptoms.

In my opinion, every test contributes to our knowledge of RA, related autoimmune conditions, and our efforts towards improving treatment and quality of life. I look forward to continuing this experimental journey.

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