Dr. Pestronk is the Director of the Neuromuscular Division and the Neuromuscular Clinical Laboratory at Washington University School of Medicine in St. Louis, Missouri, and a member of TMA’s medical advisory board. His discussion of diagnostic confusion at the 2014 Annual Patient Conference was very helpful to those who attended, and we are glad to offer the same opportunity to all TMA members. Dr. Pestronk has received many of your questions in advance, so if you are joining us live today you may find someone has already asked your question. Questions about your own particular case may require some personal detail, and your identifying information will be removed from the transcript shortly after the discussion is over.Ask a Question
I am a 55 year old man who was diagnosed with pure DM 5 years ago. After four years of tapering off of weekly methotrexate shots and daily prednisone I have gone over a year in complete remission – off all drugs. Just took some blood tests this past week and my Smith, RNP, Sjogren’s AntiSS A & B were all normal. The bad news was that my Nuclear Antibody (ANA) was again elevated to 640 with a Speckled Pattern! This despite the fact that I have been exercising 6 days a week and can do a three-mile run + 10 mile bike ride and have no pain or soreness the day after.
Will my ANA always be elevated? Will a person in complete remission for over a year always run the risk of having another DM flare up? What are the statistics?Dr. Pestronk:
Your ANA may remain elevated, but we treat the patient, not the lab tests. As long as there is no weakness or skin rash we wouldn’t generally resume treatment. There is always some risk that an immune disorder, like dermatomyositis, can relapse when a patient has their medications tapered or discontinued. The risk is likely lower the longer the remission lasts. I have no specific statistics.
Recently, WashU conducted a 79-patient targeted gene sequencing study. Is WashU participating in a larger scale sequencing project (exome or whole genome) to identify potential drug candidate pathways for sIBM? If so, what is the scale and scope?Dr. Pestronk:
We are hoping to collaborate with several other centers to study genetic predispositions to IBM.
Drugs for s-IBM?Participant:
I was diagnosed with s-IBM approximately 3 1/2 yrs. ago at the Mayo Clinic. I am also concurrently afflicted with ITP, which is controlled with low dose q48h prednisone. Are there any drugs in the foreseeable horizon (2-3 yrs.) that may be useful in treating s-IBM, and not contraindicated in patients on corticosteroids?Dr. Pestronk:
We are all working very hard to understand the causes of sIBM so we can develop treatments. I don’t know of any medications that are likely to produce useful benefits to greatly improve strength in sIBM patients during the next 2 to 3 years.
Sure of Diagnosis?Participant:
How can I be sure I have IBM and not DM or other myositis disease?Dr. Pestronk:
Ask your physician how sure he/she is. Features that make IBM a likely diagnosis include: Disease onset after the age of 60 years, Weakness that is worse with hand and finger flexion (grip) or knee extension (straightening); Slow disease progression over years; No family history of a similar disease; Typical muscle biopsy features; Serum antibodies to NT5C1A. The more of these features you have, the more likely it is that you have an sIBM-like disorder.
Not Sure of DiagnosisParticipant:
This is my first time in these live chat submissions. I am a nurse so I do understand most of the terms but have no experience in auto-immune disease.
First, I am not sure which type of myositis I have. I am a white Canadian 45-year-old woman. Have been diagnosed with DM 2 years ago. Here are my symptoms; started with dry cough, clubbing to fingers and toes, pulmonary friction rub, difficulty getting up from chair, weakness going up stairs, muscle pain and weakness to the hands (mostly pain), wrists, neck, shoulders (having a hard time to hold arms up for long period), Grotton’s papules, some but minimal heliotrope rash, raynaud’s and vasculitis, getting some ischemia to the fingers.
BW…ANA +, anti jo +, (said to be) antisynthetase syndrome, ALT- normal, AST Normal, CK normal, ESR normal, eGFR maintaining around 58 to 63 (normal range). Thank you very much for your help.Dr. Pestronk:
The presence of Jo-1 antibodies in your blood suggests that you have a form of myositis that damages both muscle fibers and connective tissue in your muscles. This type of disease can often produce damage to several parts of your body including: Muscles with weakness and discomfort; Skin, with a scaly rash called Mechanic’s hands; Lungs, with damage to the lung structure called interstitial lung disease; and joint problems. Your disease syndrome commonly responds to immunosuppressive treatments but requires continual monitoring for progression of any lung disease by your physician.
What do you do if you have been diagnosed with dermatomyositis, but other doctors disagree with the diagnosis even though they have no other diagnosis to offer? How do I know who is right?Dr. Pestronk:
You probably have no way to know, by yourself. Consult a neuromuscular physician or rheumatologist who is expert in myositis and related disorders.
NT5C1A blood test definitive?Participant:
Is NT5C1A antibody blood test definitive for sIBM without the muscle biopsy?Dr. Pestronk:
No. NT5C1A antibodies can be found in the blood of patients with other disorders.
I was sent from a Dr at Hopkins to Wash U to see you. But they scheduled me with someone else in your clinic. Despite my already being diagnosed he wanted a muscle biopsy. It took me many weeks to recover from the first one and I missed a lot of work. It was so painful. I don’t plan to ever put my body through that again. Does your clinic always recommend another biopsy?Dr. Pestronk:
We recommend muscle biopsies when we think that they will be helpful in making a diagnosis and deciding on a treatment. Most patients don’t have the troubles with the biopsy that you experienced.
My journey began in Nov. 2008 with strange rashes (to me). I gave up trying to figure that out. Then, in Dec. 2008, I developed extreme muscle weakness in my upper arms/shoulders. I got up one morning (overnight) and couldn’t raise my arms above shoulder height.
Anyway, four Internal Med Drs and one Derm later, I was diagnosed in March 09 with Dermatomyositis. The diagnosis came with a slightly elevated (239) CK number and a positive skin biopsy.
At that point, no EMG was done, no MRI done and the muscle biopsy was done on a muscle group with no weakness.
I did later consult with Dr. Joseph Jorrizo (Wake Forest) and Dr. Christopher-Stine (John Hopkins). They both agree that I have DM.
Dr. Christopher Stine did order a MRI.
My current Rheum did recently run the myositis antibody panel and it was completely negative.
My question would be is there anything that can be done to see if the disease is progressing, if it’s under control, etc? I ask because I do continue to have weakness in my lower quads (almost at the knee) and pain/weakness in the hip flexor. My CK number stays in the 70’s regardless of how I feel.Dr. Pestronk:
To decide whether a patient’s disease is progressing, we diagnose what form of myositis we are treating and then evaluate appropriate areas like: muscle strength, the skin rash and possibly lungs and joints.
If I have DM how important is it to avoid sun? Is sun exposure +/- 2 consecutive weeks in row bad?Dr. Pestronk:
Sun exposure should be minimized with dermatomyositis. More is worse. I have no specific measure other than whether the disease becomes worse.
Opinion on DiagnosisParticipant:
Hi, Dr. Alan Pestronk, thank you for allowing us to ask questions. I was diagnosed with polymyositis by muscle biopsy, blood work and EMG. I was wondering with all the muscle diseases out there, how can one be completely satisfied with the results? No medication is working for me. I have read other diseases that are misdiagnosed as PM, such as Dysferlinopathy. My doctor is sure it is PM but I am having 2nd and 3rd thoughts. I would appreciate your opinion.Dr. Pestronk:
Patients can be misdiagnosed. Our approach is to examine patients, and review their lab tests and muscle biopsies. When we have doubts, we like to obtain the original muscle biopsy tissue and perform more tests on it.
I am a 49 year old female with DM. One of my problem is calcinosis. Would you recommend any new treatments?Dr. Pestronk:
I’m not an expert in treating calcinosis.
I was dx in 2008 with PM by bloodwork for antibodies, brain/spine (not muscle) MRIs, CK, positive response to prednisone, and EMG, confirmed by biopsy. After further muscular deterioration and lack of response to MTX and IViG, the dx was changed to “inflammatory myopathy-probable IBM” in 2010. I have had several other rule-out genetic tests. The only other supported dx is osteoporosis. I am still on 5 mg of prednisone, and became even weaker during a recent attempt to taper. I am a formerly athletic, health and weight conscious, 59 yr old female, homebound, now barely ambulatory. I regularly see MDA clinic, primary care, and a slew of other specialists. What is missing from my testing and “treatment” that might confirm a diagnosis, or find overlapping disease? Are there NEW kinds of blood and other tests that weren’t around 7 years ago?Dr. Pestronk:
The best initial diagnostic approach might be to reevaluate your pattern of muscle weakness and the changes on your muscle biopsy. Your physician could also test for NT5C1A antibodies in your blood.
DM, PM or IBM?Participant:
Hello, I have sent a question earlier with the information provided. Can you say if my symptoms/test results are due to DM, PM or IBM?Dr. Pestronk:
If you have skin and muscle involvement, you can say that you have dermatomyositis. I don’t use that terminology. Jo-1 antibody related immune myopathies fit into their own category that can seem to be polymyositis, dermatomyositis, or none of those.
You refer to “IM-Vamp Syndrome.” What is that?Dr. Pestronk:
IM-VAMP is a group of myopathies that have similar features to, and include, sIBM.
With an error in initial dx of granulomatous myositis, I was treated with 20 mg methotrexate. Results: an initial 50% drop in CK levels from 400+/- to 200+/-. After 5 years, CK returned to 400+/- Argument w/ my docs now, with my new dx of IBM is whether or not I remain on methotrexate. I say, why bother. They say I may have a flair, whatever that is.
Your opinion, besides moving my care to Neuromuscular Clinic?Dr. Pestronk:
When faced with this question, we usually measure a patient’s strength, stop the methotrexate and see if they have any worsening. You can always restart the methotrexate.
Questions on DiagnosisParticipant:
Is it possible that myositis can cause a type of inflammatory bowel disease since it is an inflammatory disorder? 2. Is the fibrosis caused by the ILD reversible? I have antisynthetase syndrome and some of my symptoms are much different than patients with DM or PM. My joints swell, I get intercostal spasms that feel like charley horses in my intercostal muscles, and I also get swelling in my feet and legs, along with the fatigue. I’ve had myositis long enough to recognize that these symptoms are related to my disease and I’ve been very fortunate to have physicians who trust that I know my body. Another thing I’ve noticed is that I tend to have flare ups around the time of my period. 3. Has there been any research done correlating flares w/ hormonal surges in women of child bearing age w/ myositis? My pulmonologist said there was a study in patients with asthma that showed a correlation with asthmatic flares during the time of menstruation.Dr. Pestronk:
It is unlikely that the myositis is causing a bowel syndrome but patients with one immune disease may be more likely to have another.
Fibrosis from ILD can’t be easily treated. There is no good data suggesting that hormonal issues influence the course of myositis.
Cutting Back on PrednisoneParticipant:
I have DM, anti-jo positive, ILD. I have a hard time tapering off prednisone. I am down to 7.5 mg from 60 mg dose. I take 1.5 g cellcept bid, take 150 g of s/c Ig weekly, adalat 60 mg and hydroxyquine 200 mg bid. I am 45 years old and have a hard time stopping my active work, social and family activities. I feel too young not to be able to do the same as I used to. Am I damaging myself more by combating my muscle pain?Dr. Pestronk:
We always try to treat the symptoms of pain in immune myopathy syndromes.
Myopathies Similar to IBMParticipant:
Re: IM-VAMP: Could you name some of the myopathies in this group which are similar to IBM?Dr. Pestronk:
Myositis with mitochondrial pathology.
How long is a muscle biopsy kept for?Dr. Pestronk:
We try to keep muscle biopsies forever and have almost all samples from our institution dating from 1980.
How many types of myositis are there?Participant:
I am hearing people speak of different types of myositis – i.e. granulomatous Myositis. How many types of myositis are there and how do you know what type you have? I was told I have Dermatomyositis? Is there some subset of DM?Dr. Pestronk:
I believe that there are at least 4 different types of dermatomyositis and many more other immunemyopathies. See my web site
Treatment for Jo-1Participant:
Ok, so if Jo-1 antibody fall in its own category, how do you treat that?Dr. Pestronk:
We generally try to treat Jo-1 myopathy with immunosuppressive medications.
Is it possible to have IBM and PM or DM and not be diagnosed with PM or DM since IBM was the initial diagnosis and no further studies were done for diagnosing. Also, does PM or DM morph (become) IBM?Dr. Pestronk:
To make an accurate diagnosis, we always perform muscle biopsies. IBM and immune types of myositis are different disorders and only rarely occur together in the same person.
Your Opinion on DiagnosisParticipant:
I’m from Portugal. Last year I got diagnosed as having IBM (via 2nd biopsy). I find it odd having this disease because my symptoms started when I was 11 years old, which nowadays are difficulty climbing stairs, standing up from a couch or something, can’t stand up by my own from the ground, can’t run, some difficulty in balancing my body and lost mobility of my left arm and hand.
The characteristics they found in my muscle that indicate IBM where some IBM filaments among muscle fibers, nuclei-breakdown and some other stuff. The EMG indicates my nerves were good. I would really like to hear the opinion of other specialists in myositis so that I can get a final diagnosis. This matter got even more important now that treatment is being tested for IBM, if one day I take it I have to be sure of my diagnose.Dr. Pestronk:
Weakness beginning at 11 years of age is very unlikely to be due to sporadic inclusion body myositis. IBM can also mean inclusion body myopathy which is often a hereditary disorder.
Studies and MedicationParticipant:
Are there any studies or medications available for IBM? Also could people donate to raise money like the ice bucket challenge?Dr. Pestronk:
There are no medicines that have been shown, or are presently likely, to slow the progression of weakness due to IBM. Studies for IBM and other related diseases are listed at clinicaltrials.gov
The ice bucket challenge raised funds to support ALS research. A similar strategy could be used to benefit myositis syndrome by having people donate funds to The Myositis Association (TMA). You’d have to find a way to promote enthusiasm among donors.
Re IBM blood test, I’m thinking that if more patients had this blood test done, you’d have more data to support both your research and whether or not this is a good diagnostic tool. Would that be correct?Dr. Pestronk:
There are currently several physicians doing studies to further understand the meaning and importance of NT5C1A antibodies.
Antibody Blood TestParticipant:
Would you please explain the antibody blood test NT5C1A for sIBM.Dr. Pestronk:
NT5C1A antibodies are more common in IBM and IM-VAMP syndromes than in other types of myositis.
It usually takes a long time to get a correct dx of IBM. The NT5C1A blood test hopefully could be an added diagnostic tool and speed the process. How much weight or value do you give results of the NT5C1A blood test? I’ve heard it stated that if the test is positive, there’s an 80-90% probability of IBM. What’s your opinion?Dr. Pestronk:
In combination with a physical examination and evaluating a muscle biopsy, NT5C1A antibodies can help physicians decide on a diagnosis and whether any treatment may help.
Can you get a negative result to the NT5C1A antibody test and still have IBM?Dr. Pestronk:
NT5C1A Blood TestParticipant:
Is your lab the only one that does the NT5C1A antibody blood test for IBM?Dr. Pestronk:
Steve Greenberg at Harvard, and another European medical group, discovered the test. I don’t know of another lab that performs the test as a clinical service.
My doctors have never heard of the NT5C1A antibody blood test. Has information about it been published and promoted? If not, are there plans to do so?Dr. Pestronk:
A list of published articles on NT5C1A antibodies can be obtained by searching on PubMed. http://www.ncbi.nlm.nih.gov/pubmed?term=nt5c1a
A short summary of information about NT5C1A antibodies is on my website at: http://neuromuscular.wustl.edu/antibody/infmyop.htm#ibmab
Vacuoles and IBMParticipant:
I understand that currently the only definitive dx of IBM is if vacuoles are seen under an electron microscope. If no vacuoles are seen, then the dx is “probable IBM.” Is that correct?Dr. Pestronk:
No. Electron microscopy is not necessary, or generally useful. You are partially citing research literature. A clinical diagnosis of IBM and IBM-like disease can be made by evaluating a patient’s history, physical examination, muscle biopsy, and NT5C1A antibodies. There are features in muscle biopsies, other than vacuoles, that strongly suggest a diagnosis of IBM-like or IM-VAMP syndromes.
If no IBM vacuoles are seen in a muscle biopsy, do you recommend getting a repeat biopsy? If so, how much later and what would be the total biopsies you’d recommend?Dr. Pestronk:
We would re-look at the initial biopsy for other features suggestive of IBM-like or IM-VAMP syndromes. 80% to 90% of muscle biopsies have such features, if properly analyzed.
Re IBM blood test, is your lab considering making a kit available, which would make it easier for a patient to send a blood sample to you?Dr. Pestronk:
A kit is not necessary. Any clinical laboratory, or physician, can draw blood and send a tube for testing. A requisition for our lab, and instructions are at: http://neuromuscular.wustl.edu/lab/reqs/SerumRequisition.pdf
I understand the IBM blood test is not FDA approved and values not established. Is FDA approval being sought? If not, why not?Dr. Pestronk:
FDA approval is not necessary for a laboratory to perform such blood tests.
IBM and Celiac DiseaseParticipant:
I was diagnosed with IBM in 2008. in 2009 diagnosed with celiac disease. Dr here says brought on by the myositis? Up to that time could eat wheat etc no problems. Do you find this occurring in others? Even on strict diet have a lot of stomach problems?Dr. Pestronk:
I do not know of any disease, or medical or dietary treatment, that modifies the progression of IBM-caused weakness.
If antibody serum tests sent to WA Univ came back positive and all clinical signs show IBM, is it safe to say the diagnosis is IBM?Dr. Pestronk:
Features that make IBM a likely diagnosis include: Disease onset after the age of 60 years, Weakness that is worse with hand and finger flexion (grip) or knee extension (straightening); Slow disease progression over years; No family history of a similar disease; Typical muscle biopsy features; Serum antibodies to NT5C1A. The more of these features you have, the more likely it is that you have an sIBM-like disorder. A muscle biopsy can find other changes that could suggest an additional diagnosis.
Since my diagnosis of IBM my immune system fights everything. No longer take Tylenol, antibiotics I have been used to taking (many urinary infections). I end up in emergency with bad reactions. Can you explain to me why this has happened & if you have any suggestions.Dr. Pestronk:
I don’t know of a reason why IBM would cause your problems.
Distal Myopathy DiagnosisParticipant:
I have been diagnosed with a distal myopathy. I have had two muscle biopsies and both have shown rimmed vacuoles with an extreme amount of inflammation. After the second biopsy, I was told it was probably hIBM and had the genetic testing done for the GNE gene, which came back normal. I then proceeded to have more genetic testing done, such as Welanders, which was also normal. Hence, the diagnosis of distal myopathy. I have been taking oral prednisone and my CK levels seem to decline with a higher dose. I have been taking 7.5mg for 2 months now and my CK level went back up to 1892 after it was 744 in November, when I was on 20mg. I was just wondering if you had any insight into a diagnosis? Thank you for your time.Dr. Pestronk:
Prednisone will reduce CK levels no matter what your diagnosis. There are many causes of distal myopathies. A long list is on my website: http://neuromuscular.wustl.edu/musdist/distal.html#distal
Features that may suggest hIBM are disease onset age less than 50 years, and other family members with a similar disease.
Abundant inflammation is unusual but can occur, in hIBM. If we strongly suspect a hereditary disorder, we try to re-evaluate the muscle biopsy and may send a patient’s DNA from blood for “whole exome sequencing”.
Adipose Stem Cell TherapyParticipant:
What are your thoughts about adipose stem cell therapy for both idiopathic interstitial pulmonary fibrosis and inclusion body myositis? Dr. Thomas Gionis of the Miami Stem Cell Treatment Center has power point slides of one patient’s lung tissue before and two years after adipose stem cell treatment. The results were amazing because the fibrosis had cleared up dramatically. During the past year, there have been about ten IBM patients who have had adipose stem cell treatment and are showing some gains. The Myositis Association Community Forum has an ongoing thread from these patients.
I am interested in your response because my father died of interstitial pulmonary fibrosis and I have IBM.Dr. Pestronk:
We are years from finding that any kind of stem cell therapy is useful for IBM.
Is remission possible?Participant:
I was diagnosed with DM at the age of 55 and began treatment with prednisone for approximately 3 years and supposedly it went into remission at 61 years old and stayed dormant for 7 years. When I was around 67 years old it reappeared again with an elevated CK and I’ve been on methotrexate and prednisone for 4 years. My doctor says I’m not a normal case and it is very unlikely that DM comes back after initial remission. But in my reading and study of the disease, it really never goes away completely. Does it ever go away into remission with no further treatment or does it stay with you the rest of your life and keeps the potential to flare? I’ve been lucky. DM has never put me down so that the muscles are so weak that I’m disabled. I feel fatigued in my shoulders and my upper quads when walking, getting up, or doing yoga …. more than the normal people my age.Dr. Pestronk:
Dermatomyositis, and most other autoimmune disease, can relapse after long periods of remission. However, if treatments that helped the first time don’t help the recurrence, further diagnostic testing may be useful. Even with successful treatment, some residual symptoms, such as fatigue, may persist.
Siblings with MyositisParticipant:
We have three siblings in my family with myositis. One had a diagnosis of polymyositis through biopsy. Another had a biopsy showing dermatomyositis and has the skin problems associated with it. The last one has been diagnosed with IBM through biopsy. We have different rheumatologists and neurologists. The rheumatologists seem to believe the diagnoses are correct and possible. The neurologists say this isn’t possible – two of us must have been misdiagnosed. Could you give your opinion as to the possibility of our situation?Dr. Pestronk:
It is certainly possible that everyone is correctly diagnosed. In the absence of data, one is just guessing. Careful re-examination of all the muscle biopsies by an experienced muscle pathologist could add further certainty to any diagnostic conclusions.
Tightness and StiffnessParticipant:
Thank you for your time I have DM (7 years of worsening symptoms before diagnosis by muscle biopsy ) also PL-12 and KU antibody ( ASS no ILD ) I also have photosensitivity, Mala rash, mouth ulcers, Raynauds, edema in fingers and toes and have considerable tightness to the skin on my feet and hands with increasing stiffness to joints. I have episodes of Trigeminal Neuralgia and have never had raised inflammatory markers excepting initially high ferritin. I am moderately ++ incapacitated in self-care and mobility due to stiffness and inflammation and UV sensitivity. I would be grateful and appreciate your opinion as I feel I have stepped out of the DM / ASS boundaries. Currently IM Mtx 20mg and Prednisolone 30mg.Dr. Pestronk:
Many of your symptoms can be associated with immune myopathy syndromes. Trigeminal neuralgia has no clear association to Dermatomyositis or immune myopathies. You may wish to consult a neurologist or neurosurgeon about this diagnosis.
Blood Test Results in Normal Range?Participant:
Do some people who have polymyositis have blood test results (CK, Aldolase, etc.) that are in the normal range?Dr. Pestronk:
Patients with immune myopathies can have CK and aldolase test results in the normal range. However, there would then have to be some other test, like a muscle biopsy, that makes such a diagnosis likely.
Continuing to WorkParticipant:
After a person is diagnosed with IBM, what is the average time the person should continue to work?Dr. Pestronk:
This is a personal decision. Patient with IBM can have very different rates of progression of their weakness. I encourage my patients to work as long as they enjoy it, can do their job and are safe. We work with our patients’ disabilities to reach their goals of employment.
Triggered by VirusParticipant:
I was diagnosed with suspected polymyositis (PM) back in 2001. I became ill with PM shortly after having the mumps. I’ve heard that PM can be triggered by viruses. Is this true? The information on this seems very sparse and would appreciate any info you have.Dr. Pestronk:
There are only a few immune disorders that are clearly linked to specific preceding infections. I have no useful information about immune myopathies.
Accuracy of PrognosisParticipant:
If you have anti-Jo-1, a lot of research indicates a prognosis of 5 yrs if ILD is present. How accurate is this research and can you indicate any readings on this subject?Dr. Pestronk:
Technical information is on my website http://neuromuscular.wustl.edu/antibody/infmyop.htm
This concludes today’s discussion. TMA would like to extend a special thank you to Dr. Alan Pestronk for spending the time to answer your questions. Thanks to all the members who participated.Dr. Pestronk: