Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

[Valentijn]

I stopped Metformin in late October. I've had a noticeable increase in energy and can do quite a bit more but not a miracle cure. I have also been able to put on weight and don't need to eat every 2 hours to maintain weight. I'm a skinny Type 2. Gut issues have also improved but again no miracle.

What dose were you on? My symptoms weren't too bad with 500mg, but quickly intensified at 1000mg. And yes, I'm enjoying not having at least 3 BMs every morning, and chronic diarrhea The extended release formulation is supposed to help with the gut problems, but of course doesn't exist in the Netherlands. Not that it really matters, since I can't take it due to the lactic-acidosis side-effects.

My BGLs are up but I'm going to explore an even lower carb diet to see if that helps.

A lot of Type 2s do need insulin eventually. It sounds like it might be even more common when it's due to a mitochondrial dysfunction, versus the more typical Type 2 issues.

I started getting muscle fatigue when I first started taking Metformin years ago but was told by various doctors that it could not be the cause.

Yeah, same thing at the 500mg dose. Plus some burning on the outer edge of my upper arms. As far as doctors are concerned, the only possible side effects are GI. But luckily the insert said otherwise, though I wasn't getting most of the listed lactic acidosis symptoms until I went up to 1000mg.

Regarding the drug you are taking (G .....) I found it did push me into hypos but I was also told that over time there is a risk that by pushing your pancreas to produce more insulin it will burn out your Beta cells.

I'm at pretty much no risk of going hypo currently. I'm constantly at 10.0-14.0 at bedtime, and 10.0-12.0 every morning. It's been high in the middle of the night on the two occasions that I've tested.

It sounds like most of the risk to the pancreas would be for a Type 1 who still has some beta cells left. Our risk would probably be more with the cells getting worked beyond their capacity and crashing. The little I've read about Diabetes with MELAS indicates that the presentation and need for insulin can vary quite a bit. Gliclazide is commonly used in the non-insulin diabetics due to Metformin being contraindicated - and there's no mention of any apparent problems resulting from that.

So I'm not too worried about the Gliclazide. And really hoping I won't have to go on insulin.

BTW I've always been told to test before a meal and then two hours later. If I'm high before a meal I tend to have less carbs at that meal.

Oddly meals aren't a problem for me. I go up by 2-3 points at my peak, then am back down to my baseline (5.9-8.6) after another hour or two. My big problem is that after eating dinner I do a fairly normal peak, but it keeps going up through bed time and stays up all night. I've tried taking half of my 60mg of Gliclazide with dinner, and that might have helped last night. Have to watch for a few more days to figure it out though.

I've been doing about 30g of carbs per meal, totaling about 100g per day, since I don't want to go low carb until things are more stabilized. And partly because I was producing ketones while hyperglycemic shortly after diagnosis, and didn't want to confuse things by potentially producing dietary ketones. 40g per meal made me feel sick as hell, probably due to pushing my blood glucose up to 15+ and triggering an excess of ketone production.

 

[AndyPandy]

At one stage I was on 750mg breakfast, 500 lunch, 500 dinner. Possibly higher before that - I don't have my records handy.

I found that the slow acting made me retch uncontrollably.

I'm currently trying out 15g carb per meal or less. Waiting for an appointment with a dietician.

Everyone is different. My peaks are usually after breakfast or a dinner with too many carbs.

 

[Valentijn]

I've got a 2nd meeting with a dietician at home tomorrow. Loving the "at home" part! But the first appointment involved the suggestion that I add a lot of bread to my diet. The list of what I should be eating every day added up to around 200g of carbs daily

 

[AndyPandy]

I've got a 2nd meeting with a dietician at home tomorrow. Loving the "at home" part! But the first appointment involved the suggestion that I add a lot of bread to my diet. The list of what I should be eating every day added up to around 200g of carbs daily

That's ridiculous. I'm hoping the dietician here is up with current thinking which is more towards low carb.

 

[AndyPandy]

You might also want to look into low GI foods if you are not already aware.

 

[Dr.Patient]

I've been on metformin for more than a year for my metabolic syndrome, and luckily have no problems with it.

 

[Valentijn]

GP appointment went well. Gliclazide is being increased a bit more, to 90mg per day. She suggested taking 2 in the morning, and 1 at night, to see if it helps with my blood sugar being high all night.

I told her I think I might have a mitochondrial disease, due to my symptoms, my reaction to metformin, and a genetic mitochondrial mutation I have which can cause it. She frankly admitted she didn't understand what I was talking about, and asked if I wanted to be referred directly to the specialist unit for it which is quite far away, or see an internist at the local hospital.

We opted for local first, since they might be able to do some diagnostic stuff there. She's sending me to see the endocrinologist she consulted regarding my hyperglycemia and ketones a couple weeks ago. I'm fine with that, since as someone dealing with diabetes he's probably somewhat familiar with the genetic diseases which can cause it. So he's probably at least heard of MELAS and would know what to do next.

I should get notified of when the appointment is scheduled sometime in the next week.

 

[antherder]

@Valentijn, very pleased to hear you are getting to see a specialist. Progress!

 

[Valentijn]

2nd appointment with the dietician last week went pretty well. She even came up with an example of a daily meal plan which wasn't too far off (118 carbs). It ended up looking very similar to what I was already eating, including the full-fat dairy and such

She's coming back in a few weeks, which is great, because I might need to tweak things further to actually lose any weight.

 

[Valentijn]

The endocrinologist's office decided to downgrade my referral to be with a nurse instead. Since I doubt a nurse has even heard of MELAS, much less has any idea how to diagnose it, I pointed out that was not the referral I got and I have no use for an appointment with a nurse. So that would have been on Friday, but is now cancelled.

Time to go back to the GP. From what I've seen online, it looks like all the diagnosis (muscle biopsy, etc) is done at the specialist center, so I probably would have ended up there anyhow.

I'm just finding everything very frustrating right now, and somewhat overwhelming.

 

[Jenny TipsforME]

Amazing how one day everything can be passed off as complex and not in their specialty and then the next a non-doctor is expected to know all about it (although actually with some things nurses do understand better but diagnosing MELAS definitely isn't in that category).

Our local CFS/ME centre doesn't even have a doctor at the moment (before I just didn't get to see a doctor, but there was one there somewhere ).

 

[erin]

So frustrating, things move so slow. It is not acceptable to see a nurse, endocrine problem is a serious health issue. What you're going through is like watching a film in slow motion. Ridiculous.

 

[Valentijn]

So frustrating, things move so slow. It is not acceptable to see a nurse, endocrine problem is a serious health issue. What you're going through is like watching a film in slow motion. Ridiculous.

Well, a nurse might be fine for the diabetes management - probably much better than my GP anyhow. But pretty useless for diagnosing a disease which might be causing the diabetes (and everything else)

 

[arewenearlythereyet]

Well, a nurse might be fine for the diabetes management - probably much better than my GP anyhow. But pretty useless for diagnosing a disease which might be causing the diabetes (and everything else)

I hope you find an answer soon and completely agree with you on the gp bit! Mine was useless for cortisol testing. Nurse put him right though. Hopefully yours will be super efficient.

 

[Gingergrrl]

Sorry to hear about this latest set back @Valentijn and hope it gets straightened out soon!

 

[antherder]

@Valentijn, I'm very sorry to hear that too. Beyond frustrating.

 

[Silence]

Have you thought about trying bitter melon as an adjunt? Bitter melon has been used for some time to treat diabetes as an alternative to prescription drug or complimentary regimen in mostly asian countries..and gaining popularity quite fast in the states. Quite a few people on amazon use it to help control their blood glucose with some reporting they were able to get off metformin and just take the supplement/powder. My grandpa takes it with his metforman. It is commonly used in japanese cuisine and I used to eat it regularly-its really bitter.

Excerpts from a Diabetes management website on the use of bittermelon:
A study by researchers in Australia, China, and Germany found that four compounds in bitter melon that “activate an enzyme that is responsible for… transporting glucose from the blood into the cells.” The enzyme is called AMPK, the same one activated by exercise.

Bitter melon’s scientific name is Momordica charantia. In English, it is called bitter melon, bitter gourd, or bitter squash. It has long been used in Chinese recipes, often in soups. But the effort in cooking and not-so-great taste has kept many people from eating it regularly.

In the 60’s, 70’s, and 80’s, studies of bitter melon in Asia found a chemical called charantin, which reduced blood glucose in rabbits. According to Livestrong.com, other “insulin-like compounds” in bitter melon include vicine and polypeptide-P.

So it may be that bitter melon reduces insulin resistance, or it may be that bitter melon acts as a substitute for insulin, at least when it comes to getting glucose into cells.

In a 2007 study, the Philippine Department of Health determined that 100 milligrams per kilogram of body weight of bitter melon each day reduces glucose as much as 2.5 mg/kg of glyburide, a sulfonylurea drug, taken twice per day. Tablets of bitter melon extract are now sold in the Philippines as a food supplement and exported to many countries.

Also I think I mentioned earlier about seeing a mito specialist named fran kendall. I think she diagnoses MELAS and offers phone appointments and skype consults even to people overseas. But like you said, It seems like the last step for you is a muscle biopsy which is quite familiar to me as I am in a familiar situation. Don't know if I am going to see her to help diagnose mitochondrial myopathy.

 

[Valentijn]

Have you thought about trying bitter melon as an adjunt?

This thread is about MELAS - I'm really not interested in discussing natural remedies for diabetes management.

Also I think I mentioned earlier about seeing a mito specialist named fran kendall. I think she diagnoses MELAS and offers phone appointments and skype consults even to people overseas.

I'm going to need local management, preferably in the Dutch system, because it's free. And diagnosis definitely needs to be local, since it's likely to involve a biopsy.

 

[Valentijn]

Finally found a pretty good resource for mitochondrial diseases: www.amdf.org.au/wp-content/uploads/2014/05/Mito-Medical-Info-Booklet-201405-web.pdf

The rest of their website seems pretty good as well. Though there is a mild pushing of exercise, based primarily on the benefits of exercise in healthy people presumably being applicable. Albeit with the caveat to stop if there's any symptoms. There doesn't seem to be any research into exercise in MELAS, beyond a few case studies of new onset patients lasting a few weeks while hospitalized and with no followup.

Theoretically it might be workable if done without triggering any lactate production. Which probably isn't possible when the myopathy is too widespread. Example: my lactate was 2.3 before bed time last night, which is elevated, albeit mildly so. And that was after a low-activity, well-paced day.

The general lack of research is frustrating. And there's almost no research involving more than 20 patients or so.

 

[arewenearlythereyet]

Finally found a pretty good resource for mitochondrial diseases: www.amdf.org.au/wp-content/uploads/2014/05/Mito-Medical-Info-Booklet-201405-web.pdf

The rest of their website seems pretty good as well. Though there is a mild pushing of exercise, based primarily on the benefits of exercise in healthy people presumably being applicable. Albeit with the caveat to stop if there's any symptoms. There doesn't seem to be any research into exercise in MELAS, beyond a few case studies of new onset patients lasting a few weeks while hospitalized and with no followup.

Theoretically it might be workable if done without triggering any lactate production. Which probably isn't possible when the myopathy is too widespread. Example: my lactate was 2.3 before bed time last night, which is elevated, albeit mildly so. And that was after a low-activity, well-paced day.

The general lack of research is frustrating. And there's almost no research involving more than 20 patients or so.

Thanks for posting this @Valentijn , I've only read a portion so far but this looks interesting and may explain some other conditions I have been living with for a while.

Shame about the similarity of the authors name.....my hackles are now primed to go up when I see that name.