Any Ideas?

[Omron]

Hi there,

About 6 years ago I came down with a mystery illness. So far no doctors had been able to get anywhere with a diagnosis, and I was just wondering that as so many of my symptoms seem to be nervous system based and doctors have attempted to tell me the entire illness is POTS, whether if I posted a fairly detailed history of my case, symptoms and test results would you be able to offer any ideas or thoughts on my situation?

The illness began in November and completely out of the blue. I woke up feeling totally normal and then at just after midday I started to feel very weak and fatigued. This continued for about 30 minutes at which point I wondered if it was being caused by low blood sugar or lack of energy from having not eaten for a while, so I promptly tried eating food (even though I had completely lost my appetite) and it made me much, much worse. I started to feel sick, shaking, sweating and heart thumping and also apparently became very pale – as was told by a friend. This continued throughout the afternoon until 5pm when I started to feel much better. In fact so much so that I believed I was over whatever it was and ate a full meal and went to bed assuming I’d be fine the next day. However, after waking and feeling ok during the morning, again at 12pm the exact same thing happened – fatigued throughout the afternoon. Come 5pm, I improved and felt much better during the evening. Every single day for the last 5 and a half years this exact same pattern has happened – 12pm become extremely fatigued and ill feeling, 5pm I improve and feel better. Unfortunately, this was only the beginning.

After this continued for about 10 days I went to a doctor who performed some routine blood tests that whilst didn’t show any specific illness, did show an increase in ESR, CRP, white cell count (neutrophils) and platelets.

These levels continued to rise throughout December, January and February, but then in April had begun to come down. By August they were all completely normal, and although I felt a little bit better, the illness remained.

Not only does the illness follow a daily pattern that I mentioned above, 12pm worse until 5pm, but there is a bizarre but obvious 6 monthly pattern – my blood tests are all increased during the winter months (October to March) and then from April they begin to improve until August when everything is normal again, and then come October they all start to rise again and the pattern repeats itself. This has happened every single year for 5 years now without fail. During the winter I feel worse too, as reflected by the blood tests, but come the summer when they all become normal I only feel a mild improvement in myself, and the illness is still basically there.

Recently, instead of my CRP, ESR, platelets, neutrophils etc. being raised as I said above, they all became normal during the winter and instead my ALT (alanine aminotransferase) became very high (313 and top of the range is 50), stayed this way throughout winter and has since become normal again as I’ve come into the summer months. I had my liver scanned and a hepatitis screen to check for liver problems but all was fine. I’ve since looked ALT up and found that it can be caused by inflammation to the liver, and the increased ESR, CRP, platelets etc. points to inflammation too, although only during the winter months for some reason.

Other symptoms I have:

Strongly beating heart – At first this was only present between midday and 5pm, but it has now become constant at all times. Whether I’m lying, sitting or standing my heart beats far too strongly all the time and I feel a constant pounding in my chest. Not necessarily too fast, just thumping away in my chest. When I stand my pulse rate increases too. This was shown as postural tachycardia by a tilt table test.

Hair loss – from body and head. Hair on my head is very thin now, and is still constantly falling out. Also lost hair from my thigh calf.

Constantly low temperature - low on waking (average about 36.0 C/ 96.8 F) and rises slightly throughout the day peaking at about 9pm at 36.4 C/ 97.5 F). Also if I stand, walk about or do any exercise my temperature drops.

Fatigue – the fatigue doesn’t make me feel sleepy, just weak and ill. It’s hard to describe exactly, but since this all started I haven’t felt right once.

Loss of appetite – Since becoming ill I haven’t felt hungry at all. It’s like my sense of hunger has been switched off.

Digestion – bloating, gas and wind. Along with a loss of appetite I seem to have lost feeling in my stomach, as if it is not sending me messages of when I’m hungry. I could go hours and hours and never feel hungry.

Weight – Has always been very low, and no matter how much I eat I can’t get over 8 and a half stone/125lbs. I'm 5ft 10" and 26 years old.

Skin – I have severe seborrheic dermatitis on my face, scalp and torso.

Nervous system – It feels like my entire nervous system is very oversensitive, but not in the normal way people talk about. When I look at a TV, computer or phone screen I get what feels like an adrenaline release. I will sweat, shake, my heart rate increases and I have to open my bowels. This happens almost instantly. The same thing happens when I listen to the radio or my iPod, but for some reason not the sound from the TV. I don’t find the computer or TV a strain on my eyes or struggle with the glare, and the radio or iPod isn’t too loud, uncomfortable or a strain on my ears. I can turn it down so low it’s barely audible and the same thing happens. In fact the only problem I have is this ridiculous body reaction. I also get the same reaction of an what feels like an adrenaline release when I need to open my bowels – instead of the normal message everyone gets that tells them they have to go to the toilet my body instead does the shaking, sweating and heart rate increase which will persist until I open my bowels and it then stops almost instantly.

Also to do with my digestion is that when I drink fluid my body often reacts by shaking and sweating. My digestion is so poor that I cannot drink during the day as it fills me up and would not allow me to eat anymore food, and with such a low weight I am concerned about it dropping even further. So I finish my evening meal and then have fluid. However when I do drink my body reacts by making me sweat and shake – again what feels like adrenaline. This happens with cold drinks, so is not to do with the warmth from hot drinks. This coupled with my extremely poor digestion has meant that I find it very difficult to consume the required amount of fluid per day, and sweating and shaking every time you consume fluid is incredibly debilitating. I realise these could all sound psychological but can assure you they are definitely not. They are physical reactions that I have absolutely no control over.

Other problems with the nervous system are that any minor stress or tension results in a massive over reacting. I find it difficult to watch something like a sporting event or a tense thriller as even the slightly tension causes my body to over react and I will again sweat, shake, and have the heart rate increase.

The nervous system has become so sensitive that I even now find it difficult to wear clothing without it overreacting. When I put fabric or material on my skin I get this adrenaline release that causes all the same symptoms as listed above – sweating, shaking, heart rate increase etc. Although I get this reaction the material itself doesn’t make me feel uncomfortable or cause pain/sensitivity – it’s just this bizarre reaction that seems totally disconnected from anything else.

Exercise also causes a massive overreaction of the nervous system and results in (what feels like) huge releases of adrenaline. It makes it impossible to do anything even remotely strenuous. As you can see pretty much everything is causing my nervous system to hugely overreact and is making my life virtually impossible.

It’s really difficult to describe all these problems accurately as most people seem to always get the wrong end of the stick, like I don’t like material touching my skin because the nerves are so sensitive to the feeling of it, or I can’t look at a TV screen because it’s too bright and my eyes are sensitive to the light, but that’s not the case at all. All that happens is my body sweats, shakes, heart rate increases etc.

Reaction after stress – If something does cause me to be stressed or nervous, as mentioned above, then the next day or a couple of days later I feel much worse. More fatigued, digestion worse, more sensitive nervous system. Also my temperature can increase and has on a few occasions after a big stress caused me to have a raised above normal temp or even fever. It seems that after something stressful then whatever the inflammation is that’s lurking in my body and causing my increased blood tests is able to have more of an affect, thus causing the problems I mentioned above.

The sun – I am unable to go in the sun as if I do my body also reacts by causing me to feel much worse the next day and then thereafter and also causes me to have an increased temperature or fevers. This to me seems like my body is viewing sunlight as a stress to it (merely guesswork though). I've only been able to go in the sun 3 or 4 times over the last 5 years and each time I've felt much worse after and had quite severe fevers a few days later too.

Sweating – whilst so many things cause me to sweat, I only do so from my back, armpits and legs. My face, head, neck, chest, stomach, arms and hands do not sweat at all, ever.

Sleep – I cannot get to sleep unless I eat something. I am wide awake and then I eat something small and I fall asleep within a few minutes. I often wake during the night and have to eat something small to get back to sleep again.

Racing thoughts – my brain seems to be over stimulated all of the time. I also often get racing thoughts when I eat.

Reflexes – very quick reflexes.

Greasy hair – within hours of washing it my hair becomes very greasy.

One last thing I have not mentioned is that along with following the seasonal-like pattern of improving blood tests during the summer months, some symptoms I have improve during these summer months and then can go altogether, but as the blood tests begin to rise again around October new symptoms will then emerge. So symptoms can come and go following this pattern every year and large parts of illness seems to be continually changing.

I DO NOT suffer from:

Brain fog or memory problems – my mind feels as sharp as it has ever done.

Dizziness/light headedness/fainting

Chest pains.

Headaches.

Visual disturbances.

Pain – I have no joint or muscle pain whatsoever.

Vomiting.

Immune system – been ill with regular viruses, none more so than usual though, and the immune system hasn’t struggled.

Depression – haven’t been depressed at all, just frustrated.

Doctors have performed quite a few tests on me:

TSH – in first few weeks of illness it was 2.2, now 5 and half years later it is 1.4.

T3 – 4.8 PMOL/L – normal.

T4 – 19.4 PMOL/L – normal.

Parathyroid – 2.8 PMOL/L – normal.

Cortisol – 901 NMOL/L – high.

Echo cardiogram, ECG and 24 hour heart rate monitor – normal but cardiologist noted my strongly beating heart and an erratic heart during the night.

Ultrasound of stomach – normal.

Ultrasound of liver – normal.

ACTH Stimulation (Synacthen) test – normal.

MRI of head and lumbar - normal.

Tilt table test – proved postural tachycardia. Adrenaline and Noradrenaline both increased on being tilted but for some reason supine and tilted Dopamine levels were so low they couldn’t be measured, although I was told that was totally normal in some patients. I do find that quite strange though.

Supine Blood Pressure – 139/69

Supine Heart Rate – 106

3 minutes standing Blood Pressure – 134/69

3 minutes standing Heart Rate – 126

5 minutes standing Blood Pressure – 165/72

5 minutes standing Heart Rate – 131

These figures are all obviously elevated by the stress and nerves as my heart rate at home is on average around 70, and my blood pressure is around 110 / 65.

Noradrenaline Supine – 269 (Normal 200 – 500 pg/ml)

Noradrenaline Tilted – 560 (Normal 200 – 500 pg/ml)

Adrenaline Supine – 53 (Normal 20 – 150 pg/ml)

Adrenaline Tilted – 95 (Normal 20 – 150 pg/ml)

Dopamine Supine – Not measurable (Normal 10-80 pg/ml)

Dopamine Tilted – Not measurable (Normal 10-80 pg/ml)

(Something odd – my reaction to any form of stress is massive, and I end up sweating, shaking, very fast heart rate and just generally feeling awful from it. A bit like a panic attack I suppose but not quite as bad. I always assumed this was from adrenaline but when my adrenaline levels were measured during the tilt table test (and I was VERY stressed at the time) they were both normal, as you can see above. In fact the supine was low-normal and tilted just pretty normal. So I’m guessing that my over-reaction to stress isn’t coming from very high levels of adrenaline. A sensitivity to it instead? Or could it be from Cortisol which has always come back high in blood tests?)

Urine metadrenalines – normal.

Anti-nuclear antibodies – negative.

Smooth muscle antibodies – negative.

Mitochondrial antibodies – negative.

Gast PL Cell antibodies – negative.

Liver Kidney microsomal antibodies – negative.

Endomysial antibodies – negative.

DNA binding antibodies – negative.

Rheumatoid Factor – normal.

Borrelia (Lyme disease) antibodies – negative.

Infectious Mononucleosis – negative.

Coxsacki B Virus – negative.

Toxoplasama antibodies – negative.

IgG – normal.

IgA – normal.

IgM – normal.

Chromongranin A & B – normal.

Compliment C3 – 1.38 g/l – normal.

Compliment C4 – 0.28 g/l – normal.

Glucose fasting test – normal.

Insulin-like Growth factor 1 & 2 – normal.

ESR – 60 mm/hr - high.

C-Reactive Protein – 77 mg/l - high.

Neutrophils – 12.4 x10^9/L - high.

Platelets – 460 x10^9/L - high.

MCV – 73.0 fL - low.

MCH – 22.9 pg - low.

MCHC – 29.6 g/dl - low.

Serum iron – 4.4 UG/L- low.

Iron Saturation – 11% - low.

Haemoglobin – 11.8 G/DL - slightly low.

One last thing – I’ve noticed as I’ve become more aware and familiar with my symptoms that looking back over most of my life, there have been small events that lead me to believe that whatever this illness is it has been sort of within me or lying dormant for most of, if not all my life. Looking back from the age of 8 I can think of about 10 separate occasions where I became ill for a brief period that had exactly the same symptoms as I now have all the time. Also the fact that throughout my entire life I have been such a low weight (up to 20 years old I weighed no more than 8 stone/120lbs) and found it impossible to put any on. I personally now believe that whatever is the matter with me has been there for over 10 years and I could well believe it is something I was born with.

With the very strange 6 monthly pattern and daily cycle I seem to have then from a laymen’s point of view it would look to be something endocrine or auto-immune based, as from what I’ve read hormones could be fluctuating or changing in a manner similar to this, and the inflammation would go with auto-immune. However that’s all just guess work.

I can only apologise for the length of this and the amount of information included (and if any doesn’t make sense), it’s just that I’ve been ill for coming up to 6 years now and I'm still no closer to figuring out what's wrong with me. All the doctors I have seen are either uninterested or seem to have absolutely no idea and are not willing to really try anything, so I’m left to myself to try and figure it out. In almost 6 years there hasn't been a single suggestion or attempt to treat even part of what's going on.

If anyone has any ideas or thoughts on any of this I would greatly appreciate them. It may seem like nothing but even the most random thought might give me something to go on or somewhere to start.

Thanks for reading!

Andy

[Christy_D]

Hi Andy,

Sorry for all you are going through. Perhaps you should investigate MCAS(mast cell activation syndrome) and also have they checked your B12 levels?

Christy

[Guest Alex]

Andy,

welcome to dinet first of all.

It sure sounds like you have a lot on your plate ...I hope you'll be able to get some answers soon. My first instinct when I was half way through your story was "autoimmune/autoinflammatory something" - unfortunately most of these conditions are hard to diagnose and frustrating for the patients as well as the physicians.

Are you on any meds at this time? or have you considered any non pharmaceutical methods to help you cope with your health issues?

If you haven't seen this already, dinet's main page has very detailed lists of "things" that help as well as of "things" to avoid for those who have POTS

http://www.dinet.org/what_helps.htm What helps

http://www.dinet.org/what_to_avoid.htm What to avoid

Browsing around the forum may help as well.

In terms of stress, the things that help me a lot are deep breathing exercises (lots of free resources on the internet) as well as (mindfulness) meditation. I've recently started familiarizing myself with the work of John Kabat-Zinn, but he's not the only one expert in the field.

Best of luck,

Alex

[Omron]

Thanks for the reply ChristyD!

I have had my B12 tested on quite a few occasions and it has always been fine. I don't have the figures with me to hand but will post them soon.

Just had a quick look at MCAS and whilst there seem to be some elements that are similar to me, I don't think it quite fits. I don't have any skin rashes or lesions, and some of the symptoms I don't have, although I can see how the attacks sounds quite like the exaggerated or overreactions I'm getting. Having said that I'm certainly not going to rule anything out and will definitely look further into it (and into getting tested).

I just saw how long my original post was too! Sorry everyone!

[angelina]

Hi,

Sorry for your frustration. Sometimes it takes a bit of detective work to put the pieces together. I was wondering if your doctor ran a blood test for ferritin? It seems you may be chronically anemic. With your long history of being under weight, this can be the reason for many of your symptoms including hair loss, fatigue, and hyperadrenergic issues. MCAS is a good place to look as many of us are not able to absorb iron very well. As for your seasonal cycle, did your doctor test your Vitamin D levels?

Hope this helps. Hang in there!

[Christy_D]

Andy,

Re MCAS

FYI my son doesnt have skin issues either. I put off testing him because of that and it turned out he has it. His vitamin D levels were at 7 one point, so he was very ddficient in VitAmin d as well.

[targs66]

hi Andy,

While I don't have any answers for you, I thought the following might be useful ... I have many symptoms that are very similar to yours, especially the hyper-sensitivity to any kind of stimulus. One big difference, however, is that I suffer terribly from brain fog and unrelenting utter exhaustion (have been told I have chronic fatigue for years). I have almost given up finding a concrete diagnosis (I don't find "chronic fatigue" an adequate diagnosis, given the vast differences among CFS patients), and instead focus on finding how to manage my own symptoms. It's so frustrating, I know - I just feel like if someone could please just figure out what's wrong with me, then maybe I could be cured. But I am almost at the point where I don't think there's going to be a diagnosis, at least not anytime soon, and instead, I need to take over my illness and figure out what works for me. This forum is hugely useful in that respect; like you, I don't have typical MCAS symptoms, and yet have found that very small doses of an antihistamine called acrivastine that is quite helpful for me. I only found that by asking a million questions and reading as much as I could here.

My point (in an inarticulate way) is that hopefully you won't get too discouraged if you don't get actual diagnostic answers b/c maybe along the way you will find things that are helpful to you despite a lack of answers as to what your illness actually is. I hope that helps!! Best of luck.

[Katybug]

Sorry ...don't feel well so this will be short....I agree checking into mcas. Also, the myositises, Lyme co-infections such as babesia and bartonella (there are others but I don't know them all.) You may also want to have a more thorough workup of your complement system with C3a,C3b,C4a,C5a. These won't give you a specific illness but can confirm systemic inflammation and can narrow the list of root causes.

[Tachy Phlegming]

You asked for random thoughts. I thought of a program I saw about a disease with diurnal variation. Unfortunately, I have completely forgotten what condition it was.

But I typed in diurnal variation and mystery diagnosis and came up with a condition characterized by low dopamine. At first glance, it may seem to fit, but while you look through it and think about it, just realize it may not be your problem. It may be a starting point for the types of things you need to think about to figure out what you have however ...

http://www.npr.org/blogs/health/2011/06/18/137204964/genome-maps-solve-medical-mystery-for-calif-twins

[dkd]

Have you been to an endocrinologist? Seems like something's going on with your cortisol with the symptoms following a pattern.

Also as someone else mentioned your iron levels. Have you had a glucose tolerance test? Checked for diabetes? Just thinking out loud here.....

I hope you can figure it out .

[sue1234]

There is something called microcytic anemia that has labs similar to what yours show. If I were you, I'd find a hematologist to look over all those labs relating to the RBC status of your labwork. I have read many times that when your systems are "starving" for oxygen(as in anemia), the adrenaline gets pumped out as in "panic mode".

And, yea, what's up with the high cortisol? Have they not had you do a 24-hour urine cortisol also?

[Omron]

Thanks for the replies everyone! I'll try to answer everyone's questions.

Angelina:

My ferritin levels have been checked on quite a few ocassions, and everytime they've been completely normal. I've read about something called Anemia of Chronic Disease, which sounds like it could be what I have, whereby the ferritin is normal but the serum iron, tibc and haemoglobin are all low.
My vit D levels have been checked too and they were low. I've been taking supplements for them for the last few months.


ChristyD:

In contrast to my original reply I'm definitely going to look into MCAS. From further reading and what you've said it's certainly could be a possibility for me, so I will be getting myself tested.

KatyBug:

I didn't realise there were further Complement tests so I'll also definitely get those checked too - thanks!

Tachy Phlegming:

Thanks very much for the link. When I had my dopamine checked it did come back so low that it wasn't recordable, which although doctors told me was normal, I thought seemed a little strange. As you said, that isn't my problem, but there may well be

dkd:

I have seen an endocrinologist. In fact the endo I saw was pretty convinced I had adrenal insufficiency, and had me admitted to hospital after a 20 minute appointment because he assumed my cortisol blood test would show low cortisol. He even had the blood test results phoned through to him urgently as he had to go to Australia directly after our appointment, again I'm guessing because he believed my levels would be very low and he wanted to start treatment straight away. Unfortunately they came back the excat opposite - high! After that he lost interest and I was soon on my own again. I later followed up the adrenal problems by seeing a doctor who'd reitred but treated adrenal problems that couldn't be diagnosed. He prescribed me something called "Nutri Adrenal", which I took for a short time but it made me MUCH worse. That basically convinced me I didn't have issues with lack of or low cortisol. It is odd that every time I've had my blood cortisol levels testedm, which is 5 separate times now, they have been raised. As my nervous system is so sensitive that going to just have a fairly standard blood test like cortisol is enough to get me very nervous/stressed, and so whether they are raised because of that I don't know. It's weird that I have all the symptoms of low cortisol but high readings of it.

I have had a glucose tolerance test and been checked for diabetes, both fine.


Sue1234:

I just looked Microcytic Anemia and apparently it can be caused by Anemia of Chronic Disease (that I mentioned above), but I'm sure I also remember a doctor way back saying that my red blood cells were small. I might be completely wrong and have just made that up but I'm sure someone said something like that to me once. Again, something I need to look into and follow up.
As for the cortisol - basically what I said to dkd. But no, I haven't had to do a 24-hour urine cortisol. All doctors seem to totally ignore or be unfussed by the high cortisol levels.


Apologies to anyone I missed, and thanks to all for your replies. I really appreciate it!

[corina]

Hi Andy, welcome to the forum!

[dmjl27]

What medications are you trying? What type of doctor are you seeing currently to help you investigate?

[Omron]

I'm trying no medication whatsoever. It's been 6 years and all I've been offered so far is Midodrine (and that took doctors 5 years to offer me) but that seemed to be addressing symptoms I don't have - dropping blood pressure, fainting, light-headedness, visual problems etc. Also I'm convinced that had I tried it that it would have made me worse.

And at the moment I'm not seeing any doctors. They seem to have given up on me as they can't figure it out. I've been passed around every different discipline of medicine - endo, gastro, cardio, neuro, rheumatologist, infectious diseases etc. and basically get the same from all of them - it's not for us, go back to your GP and get referred elsewhere. It's unbelivable! It's not like I'm giving them nothing - they can see all the blood markers that are wrong! But currently I'm pretty much on my own. Frustrating doesn't begin to describe it.

Sorry for the slowness of my reply too!