Dysautonomia or inborn error of metabolism of sorts

[CaveGirl]

Please bear with me.

Since earliest childhood I've not been able to run, climb, etc. In my teens I realized I can't walk up mountains. No idea if this was present earlier. I'm nearly 47 now. Just a summary of my symptoms:

I can exercise and do, but not good. When I walk I run out of energy after roughly 120 minutes, when I run after roughly 70 minutes. I literally hit the wall, bonk, whatever you want to name it. All muscles in my body cramp up for minutes when I go to my max, then I limp home under pain and feel weak, confused, and in mild pain for two days. Basically how people describe depleting their glycogen stores. Year of running, hiking, cycling etc have not improved this at all. Fitness aside, In theory people should have enough energy to run half a marathon. I don't.

I've been running for years now, yet can't run a lot faster than walking speed despite structured running programmes to get better. As such, I can't improve on my VO2max and I'm still the slowest runner out there.

My HR when doing any sport but walking on flat ground is always very high. There's just no improvement in that I'm able to run at a lower heartrate. My vt1 zone is roughly between 160-180bpm, and most running is at the upper end, thus around 176-180. I estimate my HRmax at 209. Once I get past 180 all exercise stops due to burning muscles and shortness of breath. I think this is the VT2 threshold.

I can't walk uphill. I have no breath to speak, and need micro breaks after 50-300 steps which provide immediate relief from burning, fatigued leg muscles and shortness of breath. Old people overtake me while chatting happily. No problems downhill. The typical 9 hour mountain hike consists of 6 hours up, 3 down for me.

I crash if my diet consists of too little carbs, if I'm active before breakfast or don't eat every at least 2 hours. People are supposed to be able to fast for a day. I last 2 hours if I do more than laying in bed.

I had a cardiopulmonary exercise test recently, and I'm not sure something is there. The doctor chose much lower ventilatory thresholds than I would have chosen based on my own experience. Based on his interpretation all is fine. Based on mine I seem to get very little energy from fatty acids and none when running, cycling, etc, but this is influenced by other parameters that I can't calculate, like buffering of lactic acid (which wasn't tested). Thus all might be fine after all. Oxygen uptake was a bit low as well.

I had a few occurrences of lactic acidosis from short bursts of high intensity activity, like sprinting for a train, or trying to run up a hill.

Apart from all this I'm totally normal. I'm not dizzy, not tired, no palpitations, nausea, tachycardia apart from when exercising (but HR increases slowly when I start and comes down quickly as expected when I stop). I'm happy, active, do lots of fun things, climb trees or crawl into extensive caves on my stomach with just my phone torch that I should not crawl into. Yes, my heartrate shoots up briefly when standing up, and rarely I get a bit dizzy (feels like a waterfall rushing from head to chest). Exercising, and especially mountain walking feels like there might be a blood pooling issue, but I'm not sure. Compressive calve sleeves seem to help somewhat. But they do nothing against bonking and my constant need for carbs. There also seems to be a family story with exercise intolerance. It could be an error in metabolism, but it's a lot milder than what other people experience. Or some very, very untypical dysautonomia.

Also, when I exercise a lot I sometimes wake up at night with what feels like my heart stopped beating. I nearly faint, sit up in bed and it's gone. I go back to sleep and feel how my heart slows down again and stops. Once I get fully awake, jump a few times through my flat and then go back to bed it's gone. With some acidoses I get the same, but it lasts for weeks and eventually gets so mild that I'm not at risk of fainting anymore (still shortness of breath) and can just remain laying. And notice how a massive pressure builds up in my head, until I sit up again. Rinse and repeat. In these phases I also get shortness of breath during daytime, which I also get rid of by moving. It's like my heart seems to think: "there's a pressure gradient somewhere and no point trying to get blood and oxygen there. I keep it easy now" I had some recent checkups in a hospital, and all tests were normal. CT normal. They did a lumbar puncture in the end, and 15 minutes later I was dancing though my hospital room because I've not felt so good in weeks: pressure gone, dyspnea and wheezing gone, brain working. I have no idea why, but it did the trick and I'm still fine now. Well, I still get mild nightly symptoms when working out in the evening. This all feels like the autonomous nervous system is somehow involved. But not sure.

Oh yes, I don't feel understood by my doctors. Hey, not everyone can run for 60 minutes, thus why am I complaining? Thus a diagnosis seems far away. Opinions? Could this be some kind of dysautonomia?

[MomtoGiuliana]

Have you been evaluated by as specialist in autonomic dysfunction?  Have you done orthostatics--even informally, to see what your hr and bp are doing lying and standing?

While exercise intolerance is quite common I would say it is typically a great deal more severe than you describe.  However, there is a wide range of symptoms in autonomic dysfunction.

 

[yogini]

Hi, so sorry you are going through this. I’m not a doctor but it sounds like you’ve come to the right place. Dysautonomia runs in families.  If your daughter had a positive tilt table, and you are having dysautonomia like symptoms there is a very good chance you have it.  The heavy legs resonates with me.
 

If you can manage, slow down, start measuring your heart rate and blood pressure and try to do more moderate physical activities and rest/lay until you can sort out your diagnosis and treatment.  If you have dysautonomia doing the wrong kind of exercise can make things much worse.  If you start to feel sick the best thing to do to avoid an episode is to stop and rest, rather than pushing through.  You eventually will figure out a rhythm and you may feel better and be able to do much more just by getting on the right medicine.  You can start to read and you’ll learn about home treatments like loading up on water and salt.  Best of luck,

[KiminOrlando]

You felt better after a lumbar puncture? Do the doctors know this? I'm not a doctor and I don't know how relevant that is, but it seems like it relieved pressure somewhere, possibly cerebral (brain stem), and caused things to work right temporarily. Brain stem compression causes dysautonomia symptoms according to my neurosurgeon. Often it is from craniocervical instability which is what I have, but I would think too much fluid or blocked fluid flow from chiaris or syrinx or some other reason could do the same thing. You may need an standing MRI with flexion to really see if something is going on with the brain stem. I don't know if a doctor would just order that though. Have you seen a neurologist or is all of this done through your primary doctor? Also consider I was a stock broker and am just guessing.  🙂

You sound like you have a high level of fitness compared to most people on this site. Don't lose it. If you have dysautonomia getting that back is brutal. Most of us had to become almost bedridden before we were able to get help. I hope you find help soon. 

[CaveGirl]

On 3/6/2021 at 5:52 PM, KiminOrlando said:

You felt better after a lumbar puncture? Do the doctors know this? I'm not a doctor and I don't know how relevant that is, but it seems like it relieved pressure somewhere, possibly cerebral (brain stem), and caused things to work right temporarily. Brain stem compression causes dysautonomia symptoms according to my neurosurgeon. Often it is from craniocervical instability which is what I have, but I would think too much fluid or blocked fluid flow from chiaris or syrinx or some other reason could do the same thing. You may need an standing MRI with flexion to really see if something is going on with the brain stem. I don't know if a doctor would just order that though. Have you seen a neurologist or is all of this done through your primary doctor? Also consider I was a stock broker and am just guessing.  🙂

You sound like you have a high level of fitness compared to most people on this site. Don't lose it. If you have dysautonomia getting that back is brutal. Most of us had to become almost bedridden before we were able to get help. I hope you find help soon. 

That's what I've been wondering.

I know that I have rather bad orthostatic hypotension sometimes. For some reasons I have periods where I pee out tons of fluid, and when I stand up too quickly then I nearly faint. It feels like not just dizziness but a waterfall of blood falling down from my head to my chest (I also get small waterfalls in my arm by just lifting it up. I might have a mild form of EDS, mind, and my connective tissue is rubbish). And blood pooling in the legs. Oddly in these periods my heart also seems to think: "well, I could correct this, but it's too much of a bother. I just beat extra slowly" Something is seriously messed up here. I had this the other day again and experimented a bit. Stood upright for a bit, then did a handstand against the wall. Et voila! The waterfall of blood went towards the head, and there was my head pressure and shortness of breath. I suppose, if the heart is not beating faster to solve the blood traffic jam then oxygenated arterial blood can't get towards the brain, hence shortness of breath without any further symptoms. Thus this is happening at night when I sleep, but currently only after I exercised in the evening. Sitting up lets gravity do its thing, and my heartrate might go up a tiny bit. Why this pressure kind of 'got stuck' is a completely different question though, as is why it happens after exercise. Maybe because my veins relax more during sleeping?

Yes, I told my doctor about the lumbar puncture. He sounded very disbelieved, and wrote down psychic problems. The treatment was in the neighbouring country, and I'm still waiting for the report and all results. I need to discuss this with my doctor again. Great. I also saw a neurologist for this, and he didn't think I have a neurological problem either. Argh!

So I spent a lot of time with the exercise test I had, made lots of additional calculations, and also compared the results to people with POTS and mitochondrial myopathy (as much as possible). There's a lot of similarity with a blood pooling type of pots, but it doesn't quite fit. There's a 100% match with mito if I correct VO2max and heart rate to before I started exercising some 15 years ago though (pays off to be a data geek). And especially that my body is essentially getting all energy from carbs instead of a mix of carbs and fats in every bit of exercise I do seems to be typical. In periods where I don't exercise my fitness diminishes so quickly, and even just working shifts the RER towards 100% carbs where I just sit at my desk and work and walk to a meeting every now and then. Hence I crash when glycogen gets depleted because i don't eat every 90 minutes or so or eat too little carbs because the keto guy at the office organized breakfast. I will discuss this at least tomorrow.

[CaveGirl]

On 3/6/2021 at 2:33 AM, MomtoGiuliana said:

Have you been evaluated by as specialist in autonomic dysfunction?  Have you done orthostatics--even informally, to see what your hr and bp are doing lying and standing?

While exercise intolerance is quite common I would say it is typically a great deal more severe than you describe.  However, there is a wide range of symptoms in autonomic dysfunction.

 

I have occasional orthostatic hypotension. But there's usually a reason for it, namely that I pee out a pile of fluid. I have no idea why this happens though. However, if I do wear lower leg compression I'm able to do more. Thus I guess there's still some blood pooling going on. No, not being tested yet. I just had a cardiopulmonary exercise test, which showed that I am kind of healthy apart from little energy coming from fats relative to carbs, and when I correct the test to before I started exercising then it's very, very off: highly hyperkinetic circulation (HR increases nearly 2x faster than oxygen uptake) and a few other things. . But I've been exercising for 15 years, after growing up with knowing I can't run, climb, do all the things other kids do. Thus while the test is kind of normal it should have shown a person that is a lot fitter than I am. Thus I put in a lot of work, but only have the fitness level of someone who goes for a walk every now and then.

[CaveGirl]

On 3/6/2021 at 4:06 AM, yogini said:

Hi, so sorry you are going through this. I’m not a doctor but it sounds like you’ve come to the right place. Dysautonomia runs in families.  If your daughter had a positive tilt table, and you are having dysautonomia like symptoms there is a very good chance you have it.  The heavy legs resonates with me.
 

If you can manage, slow down, start measuring your heart rate and blood pressure and try to do more moderate physical activities and rest/lay until you can sort out your diagnosis and treatment.  If you have dysautonomia doing the wrong kind of exercise can make things much worse.  If you start to feel sick the best thing to do to avoid an episode is to stop and rest, rather than pushing through.  You eventually will figure out a rhythm and you may feel better and be able to do much more just by getting on the right medicine.  You can start to read and you’ll learn about home treatments like loading up on water and salt.  Best of luck,

I don't have children. My dad suffered from exercise intolerance as a young man and decided to never exercise again. My sister has also problems, but they developed at a later age, and one of her daughters as well, but she's also got epilepsy that nobody can explain and mentally is on the level of a 5 years old (she's 10). Thus there's something in the family. And nobody has a diagnosis.

I actually can't exercise slower. Yes, I can walk. But as soon as I run my HR jumps up by a lot. Doesn't matter how slow I run, nor how fit I am. But it's totally under control in that it slows down immediately when I walk or stop, and picks up in a normal way once I run again. I can prevent getting above the second ventilatory threshold usually, just by slowing down. But I can't run at all with a less crazy hr.

[CaveGirl]

So I went for a run again tonight. I had a pile of salt before the run and wore my compression socks. The run was fantastic! The first part of the run, this is where potential blood pooling might play a role was very smooth. I quickly and smoothly got into my normal running HR and pace. But: this all didn't help with energy. It was just gone at the same point as ever. Thus I wonder if there are two problems: blood pooling, and something else.

With regards to blood pooling; is this possible in body parts other than the feet? This would be my head when lying down, then associated with shortness of breath. Maybe in my stomach area (same odd pressure happened in the past)?

[Pistol]

4 hours ago, CaveGirl said:

With regards to blood pooling; is this possible in body parts other than the feet?

Yes, your blood can pool in the abdomen, that is called splanchnic pooling. Happens often with dysautonomia. 

[CaveGirl]

7 hours ago, Pistol said:

Yes, your blood can pool in the abdomen, that is called splanchnic pooling. Happens often with dysautonomia. 

Oh gosh, I had that! My doctor ordered an ultrasound to see if something was going on. Of course there wasn't. Then the head problems started. Time to discuss this again.

 

Can blood pooling not caused by serious venal insufficiency but by vasodilation cause a bit of an edema? I have a bit of leg swelling since being a teenager. An unsporty, but normal-weight one. If so, then that might possibly explain my problems. But if extra fluid from this accumulated in the skull then this should be visible on ct, right? But the ct was normal according to the doctor I saw in this emergency treatment. Hmm...

[Pistol]

@CaveGirl - blood pooling does not occur in the head, since it goes to the lowest body parts. Pooling means that gravity causes the blood to get stuck in the lower body b/c for various reasons the body is unable to pump it adequately back up to the organs, including the head. The mechanisms for this can be either vasoconstriction or vasodilation as well as a weak heart muscle, the latter NOT being from dysautonomia. Head problems such as headaches, cognitive issues etc are usually caused from not enough blood reaching the head. 

 

[CaveGirl]

1 hour ago, Pistol said:

@CaveGirl - blood pooling does not occur in the head, since it goes to the lowest body parts. Pooling means that gravity causes the blood to get stuck in the lower body b/c for various reasons the body is unable to pump it adequately back up to the organs, including the head. The mechanisms for this can be either vasoconstriction or vasodilation as well as a weak heart muscle, the latter NOT being from dysautonomia. Head problems such as headaches, cognitive issues etc are usually caused from not enough blood reaching the head. 

 

Yes, but when you lay down the lowest point is not the feet. Maybe too little blood flow causes a massive pressure in the head, eyes, ears. Not sure. I however get the same symptoms when doing a handstand against the wall, including shortness of breath and a heart rate that doesn't go up. Getting my heart beat faster fixes the problem. But it doesn't explain why this goes away as soon as I sit up. I woke up over the past few weeks with either a pressure buildup in my legs, in my belly or my head. My heart seems to be healthy. The only thing found during a 48h holter test is that my heart randomly speeds up to 100bpm for 20 seconds or so while I sleep. There were nights where unfortunately nothing else happened and I just slept all the way through. My heart also occasionally does a little sprint during daytime, very rarely though. I always thought it was kind of fixing blood pooling but not sure.

[yogini]

14 hours ago, CaveGirl said:

Yes, but when you lay down the lowest point is not the feet. Maybe too little blood flow causes a massive pressure in the head, eyes, ears. Not sure. I however get the same symptoms when doing a handstand against the wall, including shortness of breath and a heart rate that doesn't go up. Getting my heart beat faster fixes the problem. But it doesn't explain why this goes away as soon as I sit up. I woke up over the past few weeks with either a pressure buildup in my legs, in my belly or my head. My heart seems to be healthy. The only thing found during a 48h holter test is that my heart randomly speeds up to 100bpm for 20 seconds or so while I sleep. There were nights where unfortunately nothing else happened and I just slept all the way through. My heart also occasionally does a little sprint during daytime, very rarely though. I always thought it was kind of fixing blood pooling but not sure.

When you lay down your blood should distribute evenly.  There is no pooling in the head.  You can check your blood pressure as maybe it’s going too high when you lie down 

[CaveGirl]

8 hours ago, yogini said:

When you lay down your blood should distribute evenly.  There is no pooling in the head.  You can check your blood pressure as maybe it’s going too high when you lie down 

It's low.
I agree, blood should distribute evenly. There's however something odd going on that causes what feels like high pressure in specific bodyparts from which I wake up which goes away once I sit up. I don't have an explanation either.

[Pistol]

@CaveGirl - have you tried to elevate the head of your bed? That is a commonly recommended tip for POTS sufferers. It might prevent your sleep problems?

[CaveGirl]

7 hours ago, Pistol said:

@CaveGirl - have you tried to elevate the head of your bed? That is a commonly recommended tip for POTS sufferers. It might prevent your sleep problems?

My bed is not made for this, but yeah, in the past. While sleeping I slide down the elevated part and curl up at the bottom of it.