A thread to talk about muscle biopsies

[Hoopoe]

I thought it would be useful to have a thread for this. Muscle biopsies aren't currently considered useful in ME/CFS but they are useful in diagnosing other illnesses that might look like ME/CFS.

Today I've had a muscle biopsy with 3 samples, in the upper leg. It was painful despite local anesthesia and I could walk only with difficulty afterwards. I believe the method used was of the more invasive kind. It's very useful to have a driver to get home afterwards.

I'll share my results once I get them. It will take several months.

 

[John Mac]

I had a thigh muscle biopsy done as part of a study at Liverpool University run by Professor Anne McArdle published in 2017

A sub-group of patients and healthy controls (HCs) also underwent more detailed analyses of muscle function, cytokine production and cognitive function.
Muscle content of IP-10 mRNA was significantly elevated, suggesting that, at least in part, muscle was a source of this IP-10 but not the other cytokines.

IP-10 is apparently a pointer to inflammation

 

[Milo]

I thought it would be useful to have a thread for this. Muscle biopsies aren't currently considered useful in ME/CFS but they are useful in diagnosing other illnesses that might look like ME/CFS.

Today I've had a muscle biopsy with 3 samples, in the upper leg. It was painful despite local anesthesia and I could walk only with difficulty afterwards. I believe the method used was of the more invasive kind. It's very useful to have a driver to get home afterwards.

I'll share my results once I get them. It will take several months.

yes I remember the spasms and the pain during and afterwards. I went by myself, thankfully they did the left upper thigh and I drove myself home. I could barely walk.

More importantly, I believe there needs to be research in that regard, so that knowledge is recorded.

 

[Ryan31337]

I had a thigh muscle biopsy as part of a workup in an NHS myopathy clinic. It was a needle biopsy (looked more like a drinking straw to me!) so only needed a small incision.

The second shot of local aesthetic really hit a nerve and I almost kicked the consultant in the face by accident, but following that the procedure was painless and I didn't have any issues with pain or mobility afterwards.

There were "issues" with the lab and the sample needed re-examining, but eventually after many months I was told there were only mild, non-specific muscle changes so it didn't warrant any further investigation (genetic investigations) & I was discharged without explanation for the indications (poor CPETs, high resting blood lactate, muscle burning etc.).

 

[AliceLily]

I had a scraping of cervix tissue a couple of years ago and will be undergoing another op in September for more extensive biopsy of cervix canal. I wish I could ask that these biopsies could go on to ME research afterwards. But might not be possible after first lab testing.

Sure is hard to walk after these biopsies!

 

[Milo]

I had a scraping of cervix tissue a couple of years ago and will be undergoing another op in September for more extensive biopsy of cervix canal. I wish I could ask that these biopsies could go on to ME research afterwards. But might not be possible after first lab testing.

Sure is hard to walk after these biopsies!

I am not sure what researchers could do with cervical cells and whether they too are involved with ME pathology. I would also hate to be told that the way to be diagnosed with ME would be to have a speculum inserted and scraping my cervix. There must be a better way and then, well, men do not have cervix.

 

[AliceLily]

I am not sure what researchers could do with cervical cells and whether they too are involved with ME pathology. I would also hate to be told that the way to be diagnosed with ME would be to have a speculum inserted and scraping my cervix. There must be a better way and then, well, men do not have cervix.

I thought any kind of muscle tissue could be used/made use of for research no matter what part of the body.

I wouldn't expect women to go through cervical biopsy for ME when there are other areas biopsies could be taken.
You missed my point.

I thought I had made it clear that I am going through a biopsy and wish part of it could be helpful for ME research in some way!

It is possible that ME could be found in all types of muscle tissue, female or male.

 

[Hoopoe]

I had a thigh muscle biopsy as part of a workup in an NHS myopathy clinic. It was a needle biopsy (looked more like a drinking straw to me!) so only needed a small incision.

Mine involved a cut into the skin, and then parts of the muscle being cut out with scissors.

 

[Milo]

I thought any kind of muscle tissue could be used/made use of for research no matter what part of the body.

Tissues are groups of cells that can be quite different from one another. Brain vs quadriceps will be very very different and while all cells have DNA, depending on what you are looking for, one would decide which cells (or tissue) they want to examine and for what purpose.

For ME, the interest in muscle biopsy is due to the PEM component of our disease, and energy metabolism- But then, muscle biopsies are invasive and cost more than a simple blood test. Skeletal muscle cells contain a large number of mitochondria, because these cells are needed to produce energy for the body and muscles to work. So if someone is suspected to have a mito diseases, the muscle biopsy, typically on the upper thigh will be where the bulk of the muscle is, and where the doctors would look, if they need a muscle biopsy.

The trouble with giving a piece of cervix for ME research is that half of the planet owns a cervix and it happens that regardless whether they have ME or not, cervix can get diseased, typically cancer or pre-cancer.

 

[AliceLily]

The trouble with giving a piece of cervix for ME research is that half of the planet owns a cervix and it happens that regardless whether they have ME or not, cervix can get diseased, typically cancer or pre-cancer.

God bless half the planet with a cervix! and bless the other half too.

 

[hibiscuswahine]

God bless half the planet with a cervix! and bless the other half too.

You may be onto something there, the cervix is jam packed with connective tissue and smooth muscle cells and under involuntary control, so is the prostate as it has similar developmental origins. But I think there are easier and less painful ways to get a muscle biopsy. Any biopsy is a bit ouch, lots of local anaesthetic required….want quick healing after it….

 

[Hoopoe]

5 days have passed since the biopsy. I can walk without problems in the house, but I'm not supposed to use the leg much until the sutures have been removed. I've also become more tired than usual and need more naps during the day. I'm not sure why. It didn't feel like the biopsy caused a major relapse. Maybe it's the antibiotics.

I'm so impatient and cannot wait to know what they've found.

 

[Wyva]

5 days have passed since the biopsy. I can walk without problems in the house, but I'm not supposed to use the leg much until the sutures have been removed. I've also become more tired than usual and need more naps during the day. I'm not sure why. It didn't feel like the biopsy caused a major relapse. Maybe it's the antibiotics.

I'm so impatient and cannot wait to know what they've found.

I'm currently on antibiotics too (badly inflamed wisdom tooth) and I've also become extremely tired and groggy and barely got out of bed because I needed to sleep so much. I can't decide if this fatigue was the result of the (at that time already disappearing) infection, the antibiotics (I've got some otherwise typical side effects too, so maybe they were just too stressful for my body, who knows) or the cognitive overexertion after I wrote some long letters a few days before. Or of course the combination of these.

 

[Hoopoe]

I was contacted and told the preliminary results of the biopsy. It is clearly abnormal (in the words of the doctor) and there was a suspicion of myositis, which was subsequently ruled out. I'm now waiting for the full results.

 

[SNT Gatchaman]

Hi @Hoopoe I'm currently down the rabbit hole of muscle biopsies. At the beginning of my illness it was obvious that there was a problem with my muscles (as well as my vasculature) and a biopsy was something I could easily have done on myself — in theory. My pathologist colleague had offered to do the histology and run some fancy panels. But I became too ill to realistically do this.

Now we have a recent presentation for a formal study, describing significant multi-focal muscle necrosis and regeneration following (severe) exercise challenge in 40%, with baseline changes also — in LC patients. The team are due to publish soon but the slides as presented look pretty convincing to me. They also are undertaking the same study in ME/CFS, and indicated they expect the same results (which suggests they have some preliminary indicators from the cohort).

A muscle biopsy also showed nonspecific abnormalities so my muscles are not healthy.

By any chance did you have any more detail from the final report, beyond the "suspicion of myositis" you mentioned above? In particular any evidence of macrophage infiltration as in this study?

 

[Hoopoe]

By any chance did you have any more detail from the final report, beyond the "suspicion of myositis" you mentioned above?

A few muscle fibers with internal nuclei, a few scattered atrophic fibres, small vacuolizations in some fibers in one section. Prevalence of type 2 fibres. 3-4 fibers COX negative on NADH-TR, SDH, COX-SDH testing. No lipid accumulation, necrosis, endomysial fibrosis or inflammatory infiltrates. Normal myophosphorylase, acid phosphatase, and MHC-I. Fiber diameter generally preserved.

It is odd that in the final report it says no inflammation when before I was told it looked like myositis.

My understanding is that the cox-negative fibers indicate sub-diagnostic threshold mitochondrial dysfunction. I don't know what the vacuolizations mean, and whether the internal nuclei and atrophic fibers are normal or not. The type 2 fiber prevalence seems to indicate rapid muscle fatiguability but I don't know what it means beyond that.

Do you have any comments?

 

[Milo]

The type 2 fiber prevalence seems to indicate rapid muscle fatiguability but I don't know what it means beyond that.

Google says:
In the simplest terms, fast-twitch (type II) muscle fibers are built for short, powerful bursts of energy—that's in contrast to slow-twitch (type I) muscle fibers, which are built for endurance activities like long-distance running or biking

I would be careful in making a judgement based on the few words in the report. A well versed expert in the field (both muscle and ME) may be able to decipher. The problem may not be in the muscle fibre, but may be indicative of diverse issues, for instance whether you have been sick and bedridden for a long time.

In my case, I had slow twitch muscle fibre atrophy but the biopsy was done within 2 years of being sick. I would love to see if the same findings show up, 15 years later.

I am quite bothered that more biopsy studies are not performed even considering the ethical concerns associated with invasive procedures and considering the cost to society that we pwME carry over time.

 

[cassava7]

Just to chime in, I had a muscle biopsy (left deltoid) done in July and it didn’t show any sign of mitochondrial disease. The only findings were related to muscular deconditioning from being bedbound and lipoatrophy from malnourishment / being underweight.