on March 15, 2018
Today we are honored to have Dr. Hector Chinoy with us. He is a researcher and clinical rheumatologist at the University of Manchester in the UK. He is also an expert in genetic and environmental risk factors related to myositis. He was among the many myositis experts who spent several years developing a new set of classification criteria for myositis diseases. We’ve invited him to share his insights about the criteria and how they may change the way inflammatory muscle diseases and their subtypes are diagnosed, treated, and studied. Thank you for joining us today, Dr. Chinoy.
Dr. Chinoy: Thanks for having me!
TMA Member: My 16-year-old son became critically ill this past summer after a case of strep and ended up intubated for 15 days. He recovered well with high dose prednisone. His diagnosis was interstitial lung disease with overlap syndrome (idiopathic inflammatory myopathy). He responded very well on the prednisone and was able to go off the prednisone within 4 months of his intubation. He is on 1,000 mg twice a day Mycophenolate with no other medications at this time.
His lung function has returned to almost normal. He has resumed his activities, which includes playing tennis about 3-4 days a week and working out with a trainer for two days a week. The rheumatologists are amazed with this quick recovery and the pulmonary doctor with his lung function. They comment that he wouldn’t be doing as well as he has been if he had a typical case of myositis. His antibody testing was negative. They have mentioned that maybe his case could have been an “acute” attack towards his lungs. My questions are: Are there such cases that are “acute” situations? Is there additional testing we could do to determine whether he actually has ILD or myositis?
Dr. Chinoy: I’m afraid it’s difficult to comment on a case like this without knowing the exact details. The important thing is that your son is a lot better now!
TMA Member: I was first diagnosed with polymyositis in 2011 and then in 2012 rediagnosed, after a third biopsy, with IBM. I have all the classic symptoms of other IBM patients with one exception. I had a mother who although would never go to a doctor, had the same symptoms as me and an older sister who was diagnosed with polymyositis. I also have an older brother who is not affected at all. My mother and sister are deceased. Dr. Shin Oh, who diagnosed, me always referred to my illness as familial IBM. He has since retired, and I have had to find a new physician. Have you ever heard of any other patients with IBM that have close family members with the same illness? At support meetings for myositis, no one else seems to have other family members with the same illness. Is my situation extremely rare or could I have been misdiagnosed?
Dr. Chinoy: You could have a genetic myopathy which should be investigated accordingly. You should make your physician aware of the family history.
TMA Member: Can you talk about how these new guidelines will affect how myositis is diagnosed?
Dr. Chinoy: They shouldn’t do. They are not really supposed to be a substitute for clinical acumen.
TMA Member: Is it possible that a person’s diagnosis will change based on these criteria?
Dr. Chinoy: Unlikely. Again, clinical judgement remains the gold standard. The criteria are there to help compartmentalize patients for the purposes of clinical studies and trials, rather than to be used as an adjunct in clinical practice
TMA Member: What is different about these criteria from the old way of classifying myositis? What makes this a better system than the old way?
Dr. Chinoy: They are more accurate and help to classify patients into different subtypes of myositis. They include biopsy information, as well as specific skin signs.
TMA Member: I understand these are “classification criteria” not “diagnostic criteria.” What’s the difference?
Dr. Chinoy: Best place to go is to read Dr Aggarwal’s paper on this: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482786/
TMA Member: Are these new classification criteria something one should share with their doctor? …primary care physician? …specialist?
Dr. Chinoy: Possibly if they don’t know much about myositis.
TMA Member: How might these criteria change the way myositis is treated?
Dr. Chinoy: I don’t think that they will make that much difference to the way we treat myositis. They will help to ensure that patients recruited into clinical trials are more likely to have myositis than not, though.
TMA Member: How do these classification criteria distinguish between PM and necrotizing myopathy?
Dr. Chinoy: I don’t think that they do – this will have to be a further iteration for the next criteria.
TMA Member: How do myositis autoantibodies figure into these criteria? I see that anti-Jo-1 antibodies are considered; what about others, such as MDA5, SRP, HMGCR, NT5c1A, etc.
Dr. Chinoy: Not a lot was known about many of these when the criteria first started to be developed about 8 years ago, hence their omission. I’m sure that they will be included in the next iteration.
TMA Member: How are these classification criteria different from previous methods of identifying myositis diseases?
Dr. Chinoy: They divide myositis into different clinical subtypes. They include amyopathic DM as well as IBM.
TMA Member: What is the significance/impact of these new criteria for patients?
Dr. Chinoy: They will help to standardize the way we include patients for clinical trials.
TMA Member: Is this new method for classifying myositis symptom-based, lab-test-based, MRI or biopsy-based, or a combination?
Dr. Chinoy: Clinical, lab, and biopsy based.
TMA Member: I had an MRI exam of the lower extremities. fat cells/tissue was found among the muscle tissue in the lower leg. Is this related to the myopathy that I have (dermatomyositis)?
Dr. Chinoy: I’m afraid it’s impossible for me to provide a clinical opinion via the web like this. Sorry.
TMA Member: I was diagnosed with dermatomyositis in 2014 and have been treated off and on with steroids and immunosuppressants since. I had a biopsy in 2015 which showed many abnormalities, such as atrophy and red-rimmed vascuoles. It also showed a single inclusion myositis cell on the biopsy, but it was negative for DM. My doctor said it didn’t matter as my symptoms were screaming DM. I have had three doctors diagnose me with DM. I have the rash on my hands, I had the rash on my eyes, extreme muscle weakness, elevated CPK, couldn’t get out of a chair, struggle to climb stairs, abnormal itching sensation on my back, along with multiple others. My rheumatologist was getting ready to start rituximab infusions and decided she needed another muscle biopsy. It was sent to Penn State. It showed muscle atrophy, and that is all. She has now decided she doesn’t want to pursue any treatment. She thinks I need a bigger center. I have recently been diagnosed with adrenal insufficiency. Other diagnoses are Sjogren’s syndrome, Lyme disease, gastroparesis, weak diaphragm, and I use cpap. I saw a pulmonologist and, after testing, he is concerned about the flow going in and out of my lungs and said he believes it is caused by muscle weakness. There was nothing normal about my first biopsy, very abnormal, but second was normal. Where do I go from here? I feel like my doctor is bailing on me. How would you handle my situation and the symptoms I present? Thank you for your thoughts.
Dr. Chinoy: Very difficult. I think you need to be seen in a specialist center. A negative biopsy does not exclude myositis; the disease can be patchy. Good luck!
TMA Member: I discovered the ICD10 code for IBM is G72.41. Is this current and correct? Likely to change?
Dr. Chinoy: Sorry, I’m not up to speed on ICD10 nomenclature.
TMA Member: My diagnosis in 2007 was polymyositis/mixed connective tissue disease based on CKs of 13,000, positive EMG for inflammation, positive muscle biopsy for inflammation, positive MRI edema/inflammation bilateral quadriceps, and these positive blood tests:
Sed Rate 42 1:640
IgE 748
Rheumatoid factor positive 69
ANA positive
Hep 2 cells positive
Anti RNP positive 345
Anti SSA (RO) positive 615
Anti SSB normal
Anti DS-DNA 118
Anti Jo negative
I have been through multiple flares, treatments, etc. My current regime is IVIg monthly, Rituxan every 6 months, prednisone 4 mg (only because reduction was difficult), and Azathioprine 50mg daily (was on MTX, but due to neutropenia it was stopped).
My CKs are for the most part now in normal range, but my strength isn’t the greatest. I mean I was wheelchair bound for a long while after diagnosis, and I can now walk short distances, but I don’t seem to be able to build strength despite physical therapy. I have a lot of muscle atrophy.
With the new criteria is there any other testing that should be done?
Thank you so much in advance.
Dr. Chinoy: Sorry, I don’t think that the new criteria will add anything to your diagnostics or disease label.
TMA Member: My husband has body inclusion myositis. Are there any treatments available?
Dr. Chinoy: There are no disease modifying treatments available, but there are ongoing trials. See our recent editorial https://www.ncbi.nlm.nih.gov/pubmed/29529264
TMA Member: I got Reiter syndrome in 1982 while in the Air Force. Could this have caused my IBM that I developed about 5 years ago?
Dr. Chinoy: There is no link that I am aware of between the two conditions.
TMA Member: I was diagnosed in 2010 with polymyositis after my first biopsy. When I didn’t respond as my doctors wanted (high CPK), they had me get a second biopsy, which was inconclusive and then a third with Dr. Shin Oh, who they thought may understand my illness better. Dr. Oh diagnosed me with familial IBM. I have all the classic symptoms of other IBM patients, including wasting away of my thighs, falling a lot, weak hand and finger flexors, etc. The only difference I have is that I have a mother, although never diagnosed, with IBM, because she would not go to the doctor but had all the same symptoms, and a sister who was diagnosed with polymyositis. Both my sister and mother are deceased. I also have an older brother with no symptoms similar to ours. Have you ever heard of this before, and do you think there could be a genetic link. Could there have been a misdiagnoses? If so, what should I look for?
Dr. Chinoy: It’s possible that there could be a link. When there is a first-degree relative with similar such symptoms, the possibility of a myositis mimicker should be considered. Good luck.
TMA Member: Doctors say I have a particular antibody on my myositis panel that leads them to believe my dermatomyositis is a secondary symptom to cancer. How does this effect the DM classification? Any information on DM and its relationship to cancer appreciated! Doctors say if the cancer is discovered and treated, the DM should go away. Thank you much!
Dr. Chinoy: You may have the TIF1g antibody. Good luck with your treatment.
TMA Member: Could I have gotten IBM from when I was a crew chief on a fully loaded B-52 bomber with nuclear warheads?
Dr. Chinoy: Unlikely. No link with this environmental stressor has been found.
TMA Member: What are the new criteria for sIBM?
Dr. Chinoy: They are incorporated within the new myositis classification criteria.
TMA Member: I am interested in learning more about orbital myositis.
Dr. Chinoy: Very rare condition. May also be associated with something called IgG4 disease.
TMA Member: Is sIBM an inflammatory condition? Does that mean it is caused by inflammation or does the condition cause the inflammation? Is sIBM an autoimmune disorder? One neurologist says yes; another no. What’s the answer?
Dr. Chinoy: This is so difficult to answer. There is inflammation, but the cause is likely to be due to issues with a part of the immune system called the innate immune response. We don’t have drugs at the moment that target this pathway. Antibodies such as Ro and cN1A can be associated with IBM. So yes, it technically is an autoimmune disease.
TMA Member: What difference will the new classification criteria make to the research community?
Dr. Chinoy: They will help to standardize the way that patients are included into clinical trials. Trial investigators and readers of the published papers will have increased confidence that patients with the stated subtype of myositis do actually have that condition, and not a mimicker for example.
TMA Member: Please describe the new evidence-based criteria for diagnosing IBM
Dr. Chinoy: They include biopsy evidence and particular patterns of weakness associated with IBM.
TMA Member: Can peripheral neuropathy accompany IBM?
Dr. Chinoy: It’s not classically associated with IBM.
TMA Member: What are the new criteria for dermatomyositis?
Dr. Chinoy: They include specific skin signs and incorporate amyopathic disease. See this link http://www.imm.ki.se/biostatistics/calculators/iim/
TMA Member: I have already purchased and read your publication on Myositis, it was very informative, thank you!
1) What is the approximate break down of myositis patients by subtypes?
2) How long before the new diagnostic criteria and treatment protocols reach the everyday physicians/rheumatologists and begin to be utilized?
3) Are the treatment protocols, listed in the book, recommended for amyopathic patients as well, and will the new diagnostic criteria finally permit this population of patients to be included in clinical trials?
4) When are amyopathic patients considered in remission if labs have always been normal but rash is still present? Or does the adage active rash, active disease apply here?
Dr. Chinoy: 1 – Approximately 40-50% have DM. 2 – Remains to be seen 3 – Yes, and I hope that we will see more treatments used in ADM 4 – Very hard to answer this question I’m afraid.
TMA Member: Because hereditary forms of IBM are generally non-inflammatory, among other reasons, would you classify them as completely different diseases than myositis diseases? In your opinion, do hIBM diseases demonstrate a spectrum link between myositis (sIBM), motor neuron disease, and ALS?
Dr. Chinoy: You could well be right here. The actual term hIBM is probably a misnomer and incorporates biopsy appearances of a host of rare genetic conditions.
TMA Member: Are the new criteria available in a publication?
Dr. Chinoy: Here’s the link https://www.ncbi.nlm.nih.gov/pubmed/29079590
TMA Member: Could you please address CK numbers as they relate to myositis findings? I was recently told I have IBM and, in going back through my blood tests for seven years, I noted CK numbers from 321 to as high as 413. It was noted that a “normal” range was 55-170 for a female. Although these high numbers were evident for all that time, no one ever mentioned it or suggested additional testing. What part does CK play in myositis, and should my high counts have raised red flags?
Dr. Chinoy: Some people do run a raised CK, but this should not be an assumption. We always investigate a raised CK, even it is for reassurance purposes.
TMA Member: Do the classification criteria address issues such as antisynthetase syndrome, cancer-associated myositis, myositis in overlap with other autoimmune diseases, ILD, and amyopathic dermatomyositis?
Dr. Chinoy: Of these, they only include ADM. We hope that future iterations will incorporate these other elements.
TMA Member: Will you be including NAM in your findings? Jan 2017 I was diagnosed with NAM anti-SRP with dysphasia. After many blood, scans, and ultra sounds, finally an MRI revealed edema on my major muscles. I subsequently underwent surgery for muscle biopsies in both shoulder and thigh muscles. I’ve gained a lot of my strength back after a heavy treatment plan including IVIg for 6 months, mycophenolate mofetil, prednisolone, Bactrim antibiotic, etc. It took six months from my first visit to the doctor before being referred to a physician who recommended I have a muscle biopsy. Four weeks later, I had a diagnosis of NAM. Once I commenced the treatment plan, I did notice small improvements within days, like swallowing, and this continued to improve day by day.
Dr. Chinoy: A lot more is known about NAM now than when the new classification criteria were originally planned. It’s important to distinguish this subtype from polymyositis, as it may need more aggressive treatment.
TMA Member: Could you please share any insights into any new research or developments in treatment that patients with different categories of myositis could look forward to? I have had PM since 2006 but am still on a cocktail of prednisone, azathioprine, and IVIg. It allows me to live a “normal” life, but I’m looking forward to the day my TTN gene mutations could be fixed, or have some other “curative” treatment, like the way some cancers are treated. Thank you!
Dr. Chinoy: We are years away from these concepts I’m afraid. For the purposes of the next ten years, I think we can look forward to licensed treatments for myositis finally.
TMA Member: How much confidence do you have in the credibility of the blood tests to identify myositis-associated autoantibodies? My concern is valid because I tested positive for anti-cN-1A as a bio marker for IBM with a “higher mortality risk.”
Dr. Chinoy: Be cautious about this interpretation. It’s basically based on one study. There could be other factors at play as well as the positive antibody.
TMA Member: I was giving a blood test at the VA. The blood test came back saying that my IBM was from people that came from the Caribbean. Is this possible? I’m from Puerto Rico.
Dr. Chinoy: I’m not sure how they can make this interpretation short of seeing your blood results. It’s possible that they may have HLA tested you and found some genes that are associated with your ethnic origin?
Aisha Morrow, TMA: This concludes today’s discussion. Dr. Hector Chinoy, it has been a pleasure having you join us to answer TMA member questions. Thank you to all the members who participated, and we apologize for the delay.
Dr. Chinoy: Thanks for having me!