Tuesday, February 11, 2014 12:00 pm – 1:00 pm EST This discussion is archived.

Today we welcome Dr. Mark Gourley to answer your questions about autoimmunity. Ever since the discovery of myositis-specific and myositis-associated auto-antibodies several years ago, scientists have been finding ways to use individual disease profiles to prescribe treatment and predict risks. Dr. Mark Gourley is a rheumatologist in Washington, DC, with a long-time connection with the myositis studies at the National Institutes of Health, and a member of TMA’s medical advisory board. He has co-authored many studies on the inflammatory myopathies, and spoke at TMA’s Annual Patient Conference last year.

Ask a Question
TMA:

Thanks to Dr. Gourley for participating in our live discussion.

Dr. Gourley:

Thank you Aisha. It is a pleasure to be with you today to discuss the important topic of autoantibodies. This is an active area of research. Let’s go to the questions.

  • Complements C3 and C4

    Participant:

    What is the role of complements C3 and C4?

    Dr. Gourley:

    Good question. Complement (which there are many) are proteins that are parts of our immune system. We measure C3 and C4 by blood testing and the levels can tell a physician is a particular disease is active. Most often, we use complement levels to assess activity in Lupus. While dermatomyositis is thought have have complement involved in the disease, complement levels typically are not followed in myositis because the levels don’t correlate well with disease activity.

  • sIBM in Children

    Participant:

    I just wanted to ask if you know of any case, in the world, of sporadic inclusion bodies myositis with onset of symptoms in child ( 10/11 years of age).

    Dr. Gourley:

    We typically think of IBM as an adult disease sparing children. However, misdiagnosis can occur and the typical findings we see on a muscle biopsy of a child may be confused as inclusion body myositis. This is because some forms of muscle disease can cause the typical inclusions we see in adult IBM. It is doubtful that a child will have inclusion body myositis rather it may be a form of a dystrophy or other muscle disease.

  • Testing for MSAs

    Participant:

    I don’t remember ever being tested for MSAs. I have DM which is responding very well to treatment. Should I be tested? What kind of a test is it?

    Dr. Gourley:

    I always tell my patients not to rock the boat is all is going well. If your therapy is working and your antibody status is unknown, I’m not sure how knowing if antibodies are present or not work help you further. I’m happy to hear you are doing well.

  • CPK Readings

    Participant:

    How is this disease tied into CPK readings. My CPK has stayed about 650 for over a year and nothing seems to work to lower it. I do have general muscle weakness when walking. thank you for considering my question.

    Dr. Gourley:

    CPK elevations are always difficult to fully understand. We need to know that the normal variation of CK in blood levels vary by huge amounts depending upon many factors that include gender, ethnicity, genetics, medications and exercise. In the absence of muscle inflammation (which may require a MRI scan, EMG or biopsy) the elevation of CK may not need therapy, rather close follow-up.

  • Auto-antibodies

    Participant:

    What are auto-antibodies?

    Dr. Gourley:

    Understanding the importance of autoantibodies is something frequently asked by patients. Antibodies are part of our normal immune system that help fight infection and cancer. Autoantibodies are antibodies that no longer recognize our body as “US” rather they think that part of “US” is different and therefore needs to be attacked. The immune system then make autoantibodies to normal parts of our body. For example, anti-Jo-1 is a autoantibody produced to attack a protein necessary for our body to make certain proteins. It is an autoantibody typically found only in myositis patients and helps diagnose the myositis patient.

  • Negative Test

    Participant:

    What percentage of people with confirmed myositis do not test positive for any known auto-antibody?Are there different symptom profiles among the people with the various anti-synthetase antibodies? Is this information available anywhere?If someone with myositis is ANA positive but does not test positive for any of the auto-antibodies on a standard myositis panel (or on a regular full rheumatology panel) are there places studying auto-antibodies that are interested in looking at their blood? Do you think there are a lot of myositis specific antibodies that are still to be found?

    Dr. Gourley:

    A good reference for autoantibodies is found on The Myositis Association ‘s website: http://www.myositis.org/learn-about-myositis/diagnosis/antibody-testing. Two types of autoantibodies are discussed; 1. Myositis-specific (MSA) and 2. Myositis Associated (MAA). Specific autoantibodies are usually found only in myositis (there are exceptions) and about 1/3 to 1/2 of patients test positive for MSA. Common to many other autoimmune diseases are the MAA which are found more frequently in myositis.Autoantibodies do indeed profile the type of illness a patient with myositis may have and The Myositis Association website: http://www.myositis.org/learn-about-myositis/diagnosis/antibody-testing is an excellent resource. Lastly, a recent publication online that may be helpful: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3715024/.

  • SRP

    Participant:

    Diagnosed 2007 PM diagnoses later changed to necrotizing myositis. confirmed Anti SRP antibodies. I am doing pretty well on 2500mg cellcept but have plateaued. Could you explain SRP and how that might effect my prognosis? Are there any other treatments that might prevent more muscle loss? Anything to build new muscles?I am able to some exercise. tai chi, water exercise and recently I have been trying to do Yoga but getting up and down off the floor is challenging and pretty comical I expect lol. Thank you

    Dr. Gourley:

    I’m sorry to learn of your SRP illness. SRP is an illness that is defined by an autoantibody – anti-signal recognition particle. The illness can be very severe and when we look at the muscle biopsy, the muscle appears very toxic. Hence the name necrotizing myositis. Mycophenolate (Cellcept) is a very good therapy. Recently, is was reported that rituximab may also be helpful: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107255/.

  • Antisynthetase Syndrome

    Participant:

    I don’t understand the significance of ‘antisynthetase syndrome’. Can you please put in simple terms: what do I need to know about it and its significance as a PM patient.

    Dr. Gourley:

    Understanding the antisynthetase syndrome is important. Basically it is a collections of illnesses that are combined into one disease = the antisynthetase syndrome. Most patients experience myositis (weakness and muscle inflammation) but, they also may have interstitial lung disease, fevers, skin rashes and arthritis. This collection of illnesses make your doctor think of this syndrome and helps to follow you – especially to monitor lung disease.

  • Diagnosis

    Participant:

    If you have autoantibodies on diagnosis will they always be present?

    Dr. Gourley:

    Another excellent question. Blood levels of myositis specific autoantibodies can fluctuate during your illness. Levels may elevate during flares and may be lower during periods of remission. However, this is not the rule and most physician’s use autoantibody testing to help establish the diagnosis and usually not to follow the severity of your disease.

  • Amyopathic Dermatomyositis

    Participant:

    What autoantibodies are associated with amyopathic dermatomyositis? What does titer level mean and what is normal? What does speckled mean? I’ve seen these on my record. Thank you.

    Dr. Gourley:

    Amyopathic dermatomyositis is an unusal form of DM in that the muscles appear to be okay but the skin can be terrribly involved and other organs as well, such as the lungs. The autoantibody Mi-2 is very closely tied to DM. Amyopathic disease can have other autoantibodies and when you speak of a speckled pattern, that refers to a different autoantibody called Anti-nuclear antibody (ANA). This is a very common autoantibody seen in many different illnesses and not specific to one disease. The term speckled refers to a pattern the test displays when viewed in a microscope.

  • Lung Disease

    Participant:

    What are the autoantibodies most likely to be involved with lung disease?

    Dr. Gourley:

    Lung disease is a terrible complication of myositis. Most commonly we think of the anti-synthetase antibodies being positive in myositis patients with lung disease, arthritis, skin changes in the hands and fevers. There are several types of anti-synthetase antibodies with anti-Jo-1 being the most common. In fact, anti-Jo-1 is the most common myositis specific antibody found in myositis but in patients with the above syndrome, is even more common.

  • Rituxan

    Participant:

    I have PM and have tried several treatments with no results. Can my autoantibodies tell my physician if Rituxan will work for me?

    Dr. Gourley:

    This is a very good question asking if antibody status may be helpful for patients with various autoantibodies and is a very active area of research. The Rituximab in Myositis study was published one year ago in the Journal Arthritis and Rheumatism and further studies are underway to learn if rituximab benefits specific antibody status. Hopefully we will learn more soon.

  • Lung Fibrosis

    Participant:

    I have DM and ILD but am Jo-1 negative.I had Antibody tests and have the anti-PM-scl 75 Antibody.Is this why I have the Lung Fibrosis ?

    Dr. Gourley:

    I’m sad to hear that your have lung fibrosis. The anti-PM-Scl 70 autoantibody is uncommon but when present is seen in patients with a form of myositis that may have features of another autoimmune illness called scleroderma (hence the scl portion of the antibody’s name). Patients with this illness can have lung fibrosis. In addition, the skin may be involved as well as the gastrointestinal tract.

  • Change in Autoantibodies

    Participant:

    Can my autoantibodies change and if so what might cause this and should I be retested? For example if I am negative for antinuclear which I believe means I do not have Lupus, does it mean I will never have it?

    Dr. Gourley:

    Antibody status can sometimes change, depending upon therapy, how much antibody there is to start and what type of antibody it is. Remember, the ANA is not specific to any disease and doctors see the ANA in so many illnesses that we need to tie it to the patients symptoms. The symptoms are more important than antibody status.

  • Diagnostic Tests

    Participant:

    I have CVID which has the autoimmune/immune deficiency. Polymyositis is one of the diseases I have. When they run antibody tests to determine if I have a disease, i.e.anti-PM/Sci-70, always come back negative but isn’t that because of the CVID? Is there any other diagnostic test to overcome this limitation?Also I’ve been on hormone replacement for osteoporosis since 1994. Is that contributing to autoimmunity? Thank you for your insights.

    Dr. Gourley:

    Many patients that have immunodeficiency (in the case of Common Variable ImmunoDeficiency CVID) can have autoimmune disease – such as myositis. Depending on what your immunologic defect may be – like your B cells are not producing antibody – you may not be able to make antibodies that relate to myositis. Hormone replacement is a very difficult answer. Typically we take lupus patients off hormones but with myositis it is less clear. You need to discuss this with your myositis caring physician in better detail. Good luck.

  • Change in Anti-jo 1

    Participant:

    I have antisynthetase syndrome with anti-jo 1 autoantibody. I was diagnosed 2 years ago and have polymyositis and interstitial lung disease. My rheumatologist said that if we tested my blood again now I may or may not test positive for anti-jo 1. Why would that be?

    Dr. Gourley:

    We really use the Jo-1 test to better classify your myositis. Most physicians do not use the test to tell is your improving or worsening. Therefore, if you did test positive and have symptoms of the anti-synthetase syndrome, the value or retesting is very small.

  • Toxins not Tissue?

    Participant:

    Do you think it’s possible that our antibodies are not really acting against our own tissue but microscopic fragments of toxins that are currently undetectable by science?

    Dr. Gourley:

    Wow – you thinking deeply about this!!! You may be entirely correct. Many of the autoantibodies indeed are markers of disease and may not relate to causing or sustaining the illness. For example, antinuclear antibodies are very common, even in healthy people. Researcher don’t believe that this antibody is able to penetrate a healthy cell (i.e. go through the cell membrane) in to the nucleus of the cell and cause damage. This is why we think of the antibodies as markers of disease. However, in some cases these antibodies can cause harm and scientist need to clarify this better

  • Cellular Immunity

    Participant:

    Is cellular immunity the most important aspect of myositis vs. humoral?

    Dr. Gourley:

    Another deep hitting question. Researchers will debate cellular vs humoral vs innate vs adaptive immunity and its importance. The immune system as a whole needs to work with its host to protect it. If any part of the whole goes bad, the entire system could go haywire and illness results. The good thing for us, the immune system is very redundant and can overcome simple errors sometimes.

  • Turning autoantibodies off

    Participant:

    With myositis or other diseases triggered by autoantibodies, has there ever been any success in effectively turning an autoantibody “off”?

    Dr. Gourley:

    Its not clear that turning off the antibody will solve the problem with autoimmune disease – because they may not be the problem causer, rather the result of another problem. So what physicians do to heal you, they put medications in you that suppress the immune system in hopes that a suppressed system will stop attacking your body and healing can occur. Again, here is where the research will really help.

  • TMA Conference

    Participant:

    Since there are likely to be 200+ myositis patients at TMA’s upcoming conference, could there be any value in setting up a blood-test station where we could have blood drawn and our antibodies tested for any ongoing research? Not so much for the patient’s information but for the researchers’?

    Dr. Gourley:

    Ahh – interest in research, I love it!!!! Researchers have vast collections of blood from thousands of patients that have been collected over many years. Many investigators examine the blood and the antibodies and correlate their findings with signs and symptoms the patient may have. Some may find antibody status important, some may find that it is less important and focus on genetics of the disease. In short, many of you patients have given blood for research and this really helps our efforts. Thank you very much.

  • Coconut watter

    Participant:

    I heard coconut water is good to build lean muscle. Is this useful for IBM?

    Dr. Gourley:

    Several questions have come in asking about coconut oil. While this doesn’t relate much to antibodies, I look to the TMA membership to answer the question at the next annual meeting. I don’t know of active research but I’ll bet the membership can help the Medical Advisory Board with this question.

  • Relapsing/Remitting

    Participant:

    My rheumatologist describes my antisynthetase as a relapsing/remitting condition. In relation to autoantibodies, why would this be? Do the antibodies stop and start? I’m just not clear why any of the standard treatments (mtx, imuran, cellcept, rituxan) would be able to effect the autoantibodies.

    Dr. Gourley:

    The presence of autoantibodies will fluctuate during your course of disease. The presence or absence of the antibody shouldn’t dictate therapy, your symptoms and other lab testing should tell your doctor in what direction your headed. The antibodies are helpful for diagnosing and not so much for following disease activity.

  • New Autoantibodies

    Participant:

    Are new Autoantibodies being found , I remember Professor Robert Cooper telling us that a lady was working specifically on Myositis Antibodies here in England.

    Dr. Gourley:

    Yes, new autoantibodies are found every year. For example, at Johns Hopkins, they found a new autoantibody that is present in a large percentage of patients with statin induced disease (that is in patients taking a cholesterol lowering medication). As science progresses, we will always find new antibodies, the challenge is to determine their importance.

  • Thank You!!

    Participant:

    Dr. Gourley, Thank you so much for your work and participation in this discussion. It gives me hope when professionals dedicate themselves to helping those of us with myositis.

    Dr. Gourley:

    Thank you for your support. As a physician and researcher, I can’t tell you how important it is for us to get feedback from our patients. Remember, we need to work together, we need to always keep hope and all things can be solved.

TMA:

This concludes today’s discussion. TMA would like to extend a special thank you to Dr. Gourley for taking the time from his busy schedule to answer your questions. Thanks to all the members who participated.

Dr. Gourley:

Thank you Aisha and The Myositis Association for all your hard work. We had a lot of excellent questions that really hit hard at the meaning of autoantibodies. Take care everyone and keep positive.