Muscle biopsy report - any thoughts?

Hello - I've been pretty open and public about my illness, and I've had something come up that I'd like to hear from the community about. About six months after I got my sudden fever, I started rapidly losing weight. I went from 185 pounds down to 155. I'm 6' tall, so 155 is underweight. I lost muscle, and I have slowly continued to lose muscle over the past five years. I have indentations in my skin in places that I shouldn't. I've long wondered if this is part of my ME or if it's a comorbidity. Earlier this year, I had a muscle biopsy, and the pathologists reading it saw some odd things. I'd be curious if folks on the forum who have had biopsies or know about how to interpret them had any input on this.

The main findings are: "This biopsy shows a mild, chronic necrotizing myopathy with perimysial and endomysial perivascular inflammation and diffusely upregulated
MHC-1 staining. Differential diagnosis includes inflammatory myopathies such as dermatomyositis and muscular dystrophies with inflammation. The prominent dystrophic features including fiber size variability, numerous split fibers, and many fibers with multiple internalized nuclei suggests the possibility of myotonic dystrophy, though clinical correlation is suggested."

A .pdf of the biopsy report from Hopkins is at this link:

I've had a consult with a muscular dystrophy specialist, and my genetics are being run against all the known muscular dystrophy SNPs and mutations by NIH. The specialist is pretty sure I wouldn't qualify for any known muscular dystrophy.

The NIH intramural study I'm enrolled in is looking at muscle biopsies of other patients, so they will eventually be able to compare my results to others. But I'm curious to know if anything in this report has been seen in ME before.

Thanks.

 

I see the biospy report did not say anything about any viral testing in the muscle tissue. I suspect this is because your presentation did not indicate a need. But I, and others, are interested in viral testing of tissues to see how they differ from blood testing.

I'm sorry, but I don't have any other comment regarding your tests. Your symptoms seem more consistent with patients with severe CFS or "very ill" patients. Perhaps someone with more familiarity of those patients can comment.

 

@B_V does this mean the specialist thinks you may have some as yet unknown type of muscular dystrophy?
My father had a muscle biopsy last year - no diagnosis forthcoming but now they are sequencing his genome....
He doesn’t have the fatigue - and I don’t have the muscle wasting , but I do find it interesting! Every jigsaw piece is good.
Nobody has suggested CFS to him btw.

 

It's more likely that I qualify for a diagnosis of some type of myositis. But the dystrophic fibers are weird (and concerning). I gathered that it's unusual to see a mix of dystrophic features and inflammation in muscle.

As for viral discovery, I'm not sure. The NIH docs said they are doing some discovery (looking for new things) with muscle tissue but I haven't asked what that entails.

 

My dad has a myositis... but they don’t know more than that.

 

The biopsy certainly seems consistent with a mild but significant myositis. I presume you have been checked for autoantibodies (extractable nuclear antigens)? Myositis can be difficult to classify. I don't think it is an accepted feature of ME and would suggest an alternative diagnosis. A particularly useful tell tale sign of inflammatory myositis is disruption of the small blood vessels in the cuticles giving a ragged appearance.

 

Hi, yes, I fit ME criteria. I've had a two-day CPET at Workwell and a single-day CPET at NIH three years later. Results were very much ME-like both times. I also have POTS and experience PEM and brain fog/cognitive problems (which are not features of any type of myositis AFAIK). So it would be likely that myositis is a co-morbidity, not an alternate diagnosis.

Edit: Should also mention that I had a qEEG with Mark & Marcie Zinn and they thought it looked so classically ME/CFS that they published it as a case study.

 

Yes, I've been checked for all the known myositis-related antibodies. On one test last year I was positive for the anti-SRP antibody but re-tests were negative for it.

 

Yes, I ended up having biopsies on both legs. Only one leg showed the abnormalities. Also, my MRIs look pretty much normal. They don't show the fibrosis or edema typical in many cases myositis.

 

For those interested in this area of medicine, diagnosis and classification of myositis is an evolving field. A recent paper in Nature Rheumatology suggests new diagnostic criteria.
https://www.nature.com/articles/nrrheum.2018.41

 

Or maybe just a part of ME? I think there haven't been any good studied on muscle biopsies to say that this is not common. I'm guessing that we'll be surprised with the number of abnormalities found when doctors start looking at the right places.

 

Could be. The NIH study should help answer the question. I haven't heard of any other biopsy results yet from that study.

 

Myositis often involves a chronic infection with the same aberrant form of enterovirus (non-cytolytic enterovirus) found in ME/CFS patients' muscles. So it could be your ME/CFS and myositis are caused by this same virus.

 

I don't think this is at all likely. Muscle biopsies were done in the 1980s and 1990s and found no evidence of this sort of change, And the creatine kinase is not raised in PWME. I think it almost certain that hundreds and probably thousands of PWME have had muscle biopsies. Even if only one in twenty showed this sort of change I think it would be documented.

I think when we actually understand ME it may turn out that myositis is one of the causes of ME. I doubt we will ever come to think ME is a cause of myositis.

 

That's interesting. I had a muscle biopsy but it showed nothing thought to be significant. But it was only from one leg. It would be interesting to know whether anyone else has had biopsies from both legs; one would suspect that this is most uncommon.

ETA s there any research regarding biopsies from both legs, and in particular showing one positive and one negative?

 

I had a muscle biopsy done early in my illness. The mitochondrial DNA was sequenced and deemed to be normal. As for the biopsy, there was a comment made about my slow twitch fiber (aerobic) that was atrophied. Whether it was simply due to the deconditioning process or a pathological process, I am not about to find out, as they gave up on me as soon as I didn’t have a mutation on the mtDNA. I would certainly give a piece of my muscle for research and for personal curiosity, however my health care system does not share that sentiment.

 

The reason I ended up with two muscle biopsies is probably rare and weird. I doubt many people get two. I decided to get one on my own, and it was an incision biopsy at Stanford. I had thought NIH would be able to use it, but they decided they needed to do on-the-spot processing that differed from how Stanford handled it. So I ended up getting a second (punch) biopsy at NIH three months later. Not how I would have chosen to do it starting out, but I guess it's good I ended up doing both.