Mito. Causing Pots, How Do You Know?

[jem15]

I've heard people mention mitochondrial disease as a possible cause of POTS and I was wondering what tests are done in order to figure out if you have a form of mito. or not? Anything I can ask my dr. to screen for? In the past, before I knew about the POTS, someone else mentioned mito. diseases to me, and even though alot of times they are severe, and you'd know if you have it, supposedly more mild forms present kind of like a chronic fatigue/pots type syndrome. I have had bloodwork for some sort of mitochondrial antibody in the past, but it only was one type, so I don't know if there's more or that's it. I'm just curious cause my symptoms only seem to get worse from year to year and I haven't responded to exercise or any other treatments yet. Don't know if that's just typical for POTS or if there's another condition thrown in there.

[Birdlady]

The problem I'm finding is that you need a ton of tests done. One mito doctor I contacted a few weeks ago told me I could check Pyruvic Acid, Lactic Acid and CPK in blood. She warned me though that even if those are all normal, it doesn't mean you don't have a mito disease. However she said if any of those tests come back high, then it's pretty much guaranteed something is not right. I'm still waiting on the results of those tests.

I had urinary organic acids, fatty acids and amino acids tested, but don't have a doctor that knows how to interpret them.

The "gold" standard years ago was a muscle biopsy but that's changing from what I'm hearing...The results aren't always conclusive either.

Here's a link that I found through my research you might find interesting.

http://my.clevelandclinic.org/disorders/Mi...l_Diseases.aspx

[toddm1960]

The gold standard today is fresh tissue muscle biopsy, and they'll not only rule out the known varients but also look for dysfunction in the 5 complexes that make up the respiration chain. The best place to find doctors that deal with mito patients is to go on MDA.org (mitochondrial disease is an MDA disease) and find the closest MDA office. Check out both UMDF.org and mitoaction.org each has great information, good luck finding your answers.

[Birdlady]

The gold standard today is fresh tissue muscle biopsy, and they'll not only rule out the known varients but also look for dysfunction in the 5 complexes that make up the respiration chain. The best place to find doctors that deal with mito patients is to go on MDA.org (mitochondrial disease is an MDA disease) and find the closest MDA office. Check out both UMDF.org and mitoaction.org each has great information, good luck finding your answers.

Cleveland Clinic says it's not anymore.

Myth

A muscle biopsy is the "gold standard" for diagnosis of mitochondrial disease.

Fact

Although the muscle biopsy is a powerful diagnostic tool, it should not be considered a "gold standard." Examination of a biopsy includes microscopic evaluation, enzyme testing, and genetic testing. Although all U.S. labs that offer muscle biopsy meet strict laboratory guidelines, there is no agreed-upon standard approach for enzyme testing. Furthermore, a muscle biopsy with full analysis costs well over $10,000 and poses both surgical and anesthetic risks. In some patients, the diagnosis can be made based on clinical symptoms and a positive blood test (identifying a genetic mutation) or a combination of clinical findings and other non-invasive testing -- in either case, a muscle biopsy is not necessary. Finally, since biopsy results usually do not alter the long-term outcome or treatment considerations, some specialists and patients choose to treat without the need for a muscle biopsy.

[toddm1960]

The Cleveland clinic doesn't do fresh tissue testing, in fact they send out most of their frozen biopsies. I wonder what date that was from on their web site, the latest and greatest testing is now a swab test looking at the DNA and guess what their matching their results to......you guessed it fresh tissue muscle biopsy. The swab research is very new and only can detect dusfunction in complex 1 & 4, Dr Sims out of Mass General is leading the way with this testing.

The meat of this matter is finding dysfunction within the respiratory chain, this can not be found with a genetic genome or blood tests looking for enzymes. The type of mitochondrial dysfunction we're likey to have is this type, not the very deadly known varients. They are no longer naming varients with these crazy acronyms MELAS, MERRF, they are now just listing the complex you have a substandard function with i.e. complex I or complex III. 99% of us with POTS will be negative for genetic or blood testing the only way to see this level of dysfunction is with fresh tissue biopsies.

[Crow]

I would like to look into this, but don't have health insurance. Sounds like it would cost too much.

I've tried D-Ribose supplements and I think they've helped.

[Birdlady]

Very interesting! Thank you very much Todd!

[jem15]

thanks for the helpful info. Wow, a lot to consider with this mito stuff. ha, of course everything has to be so complex, i never anything easy to test for;-) I'm hoping if I bring some of this info to drs, they might know what to do with it, or where to start. ha, though i won't hold my breath, so far, it seems I just have to be my own doctor. They never know or look into anything.

I'm wondering though, when the info mentioned some drs just treating the condition, even w/o testing confirming it, what that involves, and if there's any site that elaborates on that. I feel like every other treatment I've tried has just been guessing, so if the mito treatment is not harmful, why not try it too? I'm guessing maybe it might not be that easy, or maybe the treatment differs based on the type you have? Anyone find further info on that?

[Birdlady]

As far as I know the treatment is usually large doses of vitamins. Specifically the "mito cocktail" which you should be able to find through google. I have to warn you though, I started taking low doses of vitamins on my own and I've had PVC's every single day since. I stopped them to see if it would go away and it hasn't yet! Ugh...so do so at your risk.

I found a link for you

http://www.mitoaction.org/blog/mito-cocktail

[toddm1960]

Dana is right as of today the treatment is a mix of vitamins and cofactors, I haven't seen any change in how I feel taking small and large amounts of these. I also have had no luck getting insurance to pay for these treaments, it's all there is for us and we're on our own to pay for them.

Check out mitoaction.org, umdf.org and mda.org all of these sites have great information, good luck and hope these help you feel better.

[jem15]

Thanks everyone for the info!

[megan2]

For a mito diagnosis, doctors usually begin with an "analyte" evaluation (creatine kinase, lactate, plasma amino acids, urine organic acids, acylcarnitine profile). If that doesn't show anything diagnostic they will proceed with genetic testing. They can sequence your entire mtDNA genome and for adults will also usually test the POLG gene. The Cleveland Clinic uses Transgenomic to do genetic testing. Some other doctors are using the new Medomics test, which is a new promising technology. Most clinical trials will NOT accept patients diagnosed through muscle biopsy. Some doctors like Dr. Kendall are not even doing muscle biopsies anymore. Check out mitoaction.org for Dr. Kendall's presentation on muscle biopsies. Muscle biopsies are invasive, and sometimes people can have normal biopsies, but still have mito. The new "gold-standard" is finding a pathogenic gene mutation. That is the ONLY way to have a 100% sure diagnosis of mitochondrial disease.

That being said, sometimes the genetic testing and analyte testing cannot reveal a diagnosis. In that case, they might decide to proceed with a muscle biopsy. A muscle biopsy can show mitochondrial dysfunction; however, a muscle biopsy does not distinguish between mitochondrial dysfunction caused by primary mitochondrial disease or caused by another condition. Some that are diagnosed with mito through muscle biopsy, have been rediagnosed with other conditions. Even so, currently, a muscle biopsy is the most common path to diagnosis. Most of the gene mutations have not been identified yet, making it impossible to diagnose some people with mito through genetic testing. This is changing with the development of the new Medomics MitoDx that looks at the entire mitochondrial genome; within a year, they hope to have another test on the market that will test for nuclear genes. (Mitochondrial disease can be caused both my mtDNA mutations and nuclear DNA mutations).

It is important to see a mito specialist so they can interpret the tests and direct testing. Most mito specialists use a "step-wise" approach, meaning they do one level of testing at a time. Dr. Shoffner is the exception--he will do a biopsy on first visit.

If you have a primary care provider, or doctor at home do the first level of testing, specialists often find that helpful.

Todd, the Cleveland Clinic does do fresh muscle biopsies. They do fresh testing through the CIDEM lab in Cleveland. They don't do all testing at the CIDEM lab, some muscle is frozen and sent out (for glycogen and mtDNA depletion testing). Only certain tests like OXPHOS polarography require fresh muscle.

As for treatment, tests for mito may, or may not uncover some new treatment options. It depends on what type of mito you have, and if you are deficient in anything. For example, if you have low coq10, supplementing coq10 may help (more than if you had normal levels). Same goes for creatine, carnitine, etc. With a confirmed mito diagnosis, you can get insurance companies to cover the supplements...especially if you get the medical food version (Solace Nutrition). Sometimes it require appealing a decision, but many mito patients have their cocktail covered.

The supplements haven't cured me, far from it. But they have improved many of my symptoms. Not everyone will have a positive response like me, but it is usually worth trying. In my case, a fresh muscle biopsy pointed to new treatments we had not started before such as a low fat diet and creatine.

[toddm1960]

Megan you are correct it was Dr. Kendall on the mitoaction webinar, I had been reading information from Dr Sims and didn't correctly give her credit. This is the swab testing I talked about also, and the problem today is if you don't have a known variant this can only find dysfunction is 2 of the 5 OXPHOS complexs. When you say the ONLY 100% sure diagnosis of mitochondrial disease is finding a pathogenic gene mutation, that's great if you have known variant. There are thousands, maybe tens of thousands of unknown variants today.

My goal was to find out if I had mitochondrial dysfuction, either a known variant or not and the only way to find mitochondrial breakdown is with a fresh tissue biopsy (my mitochondrial genenome testing was negiative). You are correct in saying it could be mtDNA or nuclear DNA, to me it didn't matter, I wanted confirmation the mitochondria were not functioning correctly. Had I only had the blood or genetic testing I would have been told there's no mitochondrial problems.

As far as insurance covering mito vitamins and cofactors could you please write to Blue Cross and Blue Shield of New York, I've appealed twice and coverage has been turned down 3 times. Each time I've noted the orphan drug status and medical food version for C-Q10. Though like you I havn't seen much if any improvement in symptoms or overall feeling.

Megan if you don't mind could you share what was found with your fresh tissue biopsy, and it sounds like you also had your CSF checked ( I did also ) what did they find and where did you have yours done?

Please don't take of of this response as mean or agrumentative, it's not meant that way at all. I do enjoy the back and forth of ideas and information, and don't like threads that become personal attacts.

[megan2]

Todd- do you have a mito specialist? Have they written a letter for your insurance company? That sometimes helps. Are you trying to get cyto-q covered?

As for biopsies I agree they are necessary because we don't know all the gene variants yet. However, diagnosis is only certain if they can find the gene. They haven't found the gene responsible for my mito yet either, although they have found 4 mutations of unknown significance. I also had signs in my bloodwork, such as elevated alanine. However, your labs have to be really off for any of that to be diagnostic and it wasn't with me so we proceeded with the biopsy.

I had a fresh muscle biopsy done in Cleveland. I have mtDNA depletion and secondary CPT2 deficiency. I have never had a CSF test. I am still waiting on some results from the biopsy--it has been two months since my biopsy.

Todd brings up a good point about CSF testing. Sometimes if they can't find anything in the bloodwork, they will run some of the tests on CSF fluid.

[Birdlady]

Despite high normal lactic acid in my urine along with many other elevated amino acids and organic acids, my CK and lactate were normal in blood. I'm probably going to abandon the idea of mito for the time being. I refuse to do the muscle biopsy and I have no way of getting down to Atlanta to see Dr. Kendall. It's not an easy thing to diagnose and I haven't seen many people even feel better with the mito cocktail...hmm Makes me wonder why!

Did either of you have urinary amino acids/organic acids done? If so were any of your results elevated?

Thanks

[megan2]

Despite high normal lactic acid in my urine along with many other elevated amino acids and organic acids, my CK and lactate were normal in blood. I'm probably going to abandon the idea of mito for the time being. I refuse to do the muscle biopsy and I have no way of getting down to Atlanta to see Dr. Kendall. It's not an easy thing to diagnose and I haven't seen many people even feel better with the mito cocktail...hmm Makes me wonder why!

Did either of you have urinary amino acids/organic acids done? If so were any of your results elevated?

Thanks

Dana, my urinary organic acids were normal. Are you able to go to the Cleveland Clinic at all? That is another option.

Dr. Kendall will meet with you via skype or phone chat, but it is harder to get insurance to cover that than a normal visit.

You may want to try the supplements if you can afford it. If it doesn't help after a month, you can stop.

[Birdlady]

I could make it to Cleveland Clinic, but my negative experience in another department makes me hesitant to give them anymore of my money. Do you have any experiences with the mito department? If you need to private message me, that is fine.

My urinary amino acids and organic acids were really messed up, so that is quite interesting yours were all normal.

As soon as I start to take any thing on the mito cocktail (coQ10, l-carnitine or B6) I immediately get irregular heart beats. It's really scary, so I've been reluctant to treatment myself with them. I've tried several times too.

[megan2]

I could make it to Cleveland Clinic, but my negative experience in another department makes me hesitant to give them anymore of my money. Do you have any experiences with the mito department? If you need to private message me, that is fine.

My urinary amino acids and organic acids were really messed up, so that is quite interesting yours were all normal.

As soon as I start to take any thing on the mito cocktail (coQ10, l-carnitine or B6) I immediately get irregular heart beats. It's really scary, so I've been reluctant to treatment myself with them. I've tried several times too.

Interesting you say that...that has never been officially reported, however, with long chain fatty acid oxidation disorders, some specialists believe that theoretically, carnitine can cause arrhythmia

Have you had an acylcarnitine profile? That might point to a diagnostic direction; many FODs do not require a muscle biopsy to diagnose. When people say "mito" they are usually referring to OXPHOS disorders (complex 1, 2,3,4,5) however, sometimes FODs are considered a type of mitochondrial disease because the problem occurs in the mitochondria.

FODs usually result in abnormal organic acids. Treatment is a low fat diet supplemented with MCT oil. There are some good clinical trials open as well.

I have seen Dr. Cohen over at the Cleveland Clinic...he is awesome. His staff I've had some problems with, but Dr. Cohen is great.

[Birdlady]

Very interesting! Thank you so much for all this. I have not had the acylcarnitine profile, so maybe I'll look into this. I assume it's a test any doctor can order.

I had no idea that MCT oil could help with this. I started taking coconut oil a few days ago and it coincided with the heart palps going away... I discontinued the supplements too.

[megan2]

Very interesting! Thank you so much for all this. I have not had the acylcarnitine profile, so maybe I'll look into this. I assume it's a test any doctor can order.

I had no idea that MCT oil could help with this. I started taking coconut oil a few days ago and it coincided with the heart palps going away... I discontinued the supplements too.

Yes, any doctor should be able to order the profile, interpreting it might be another story. http://fodsupport.org/ has some information if you are interested. Good luck! PM me if you have any questions!

[Birdlady]

Thank you very much. Interestingly I just found out my 20 y/o brother is going to the doctors tomorrow because he's been having heart palps, dizziness and near fainting upon standing. This is a new development for him and that's exactly how mine started.

Edit: There was one thing that caught my eye on the site you linked. In one of the videos on there, it said that people with FOD have to be careful with aspirin. Do you know why? I cannot take aspirin (even in tiny doses) as it gives me temporary hearing loss in either ear for up to 24 hours after I take it.

[megan2]

i am not sure, but mito conditions can cause temporary hearing loss. hope your brother starts feeling better soon!