This is not likely to help many people but it might help the odd one with puzzling symptoms.
I had an enlarged right thyroid gland and low potassium two years ago. This gradually developed into all sorts of other symptoms, tingling in hands and feet, incidental arthritis found, muscle aches in back, mild constipation, mild diarrhoea, macroglossia, slightly raised ALP bloods, all autoimmune blood tests were negative apart from TPO, also high blood pressure resistant to medication, glucose intolerance and chronic snoring (not sleep apnoea) plus others. Most of my symptoms were worse at night.
The big tell for me is an increase in the size of my feet. I've always been a size five but in the last 5 years or so I've gradually become a size 6.5/7 (I had put it down to feet spreading in old age).
It turns out I have a rare condition called acromegaly. It's caused by a small benign adenoma in the pituitary gland leading to too much growth hormone being released. I am now on the waiting list to have the adenoma removed. As it was discovered fairly quickly, it is small enough to give me an excellent prognosis once it has been surgically removed.
A decent proportion, especially women with this disease end up with thyroiditis, it's hard to diagnose because the symptoms are very general (most of mine were put down to going through the menopause by both me and my GPs).
The relevant blood tests are IGF-1 (measuring average growth hormone over time) and an oral glucose tolerance test (OGTT) which in normal people shows suppressed GH but if you have acromegaly it doesn't. Testing growth hormone on its own isn't very useful as it's a hormone that varies considerably during the day.
One of the difficulties in diagnosis apart from the vague multi-systemic symptoms, is that most of the medical literature (online anyway) shows distortion of the facial features particularly the brow and jawline, although this is a classic sign - not everyone has this symptom and some people never develop it. I think GPs and consultants are primed to see the facial features in order to think of the possibility of acromegaly as a diagnosis.
I can't stress enough how uncommon this disease is, there's only about 3-4 thousand people with it in the UK but because of this, it often takes years to diagnose, so if you have thyroiditis with normal TSH, T4 (and I tested T3 privately) and some of the other symptoms then it might be worth investigating to rule it out.
Thank you so much to everyone who helped out with my questions. I might still develop active Hashimotos in the future (I do have the antibodies after all) and if I do, I'll be back for some more help.
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Souzy
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Thank you for taking the time to write this Souzy and I wish you all the very best with your procedure and beyond. I found your account incredibly interesting. Take care x
The fact that you've now been given a diagnosis you will be able to put your mind at rest and I hope you have a good doctor who is knowledgeable and can enable you to restore your health.
I’m glad you finally have some answers Souzy. Hopefully you’ll now get the treatment you need.
I can't stress enough how uncommon this disease is, there's only about 3-4 thousand people with it in the UK
Whenever I read things like this I wonder how rare it actually is. Like secondary hypothyroidism, I suspect it may not be as unusual as all that—just often left undiagnosed. How many doctors would even think to check for acromegaly? Not many, I’ll wager. Really glad yours did! 🙂
I asked them to check it out myself Jazzw. I couldn't believe I could develop all these symptoms in just a few years and them not be linked, so after about a year of nothing much happening after all the GP tests were done, I asked for a copy of my notes and started keeping a spreadsheet of all my blood results, mri/ct scans etc etc. Then worked through what symptoms were in common with what diseases, I started trying to rule them out. I started with autoimmune because whatever I had it was obviously a multi-system problem (the main ones like MS had been ruled out by my GP) and asked if I could have a test for sjogren's and lupus - these were negative. Then I started looking into anything with surging symptoms, ruled out pheochromocytoma as I had already had a CT scan of my kidneys and adrenal glands but asked for a test re paraganglioma, that was ruled out but while I was reading up on that I found out about acromegaly. I remember remarking to my husband in December, that if that paraganglioma test was negative then I had one more thing to try.
I couldn't have done it without the NHS and their willingness to listen when I asked for tests, but I couldn't have done it without Dr Google either and although I believe the NHS would have got there eventually, it might have been many more years.
I too think it's underdiagnosed so that's why I thought I'd leave a post here as thyroid issues can be a secondary co-morbidity.
My feet as an adult have gone up from a size 6 to a size 9. I asked last year to be checked for acromegaly and gave the info. to an E.N.T.surgeon, as well as my G.P. to be passed on to the Endo whose waiting list I have been on since last May/June for thyroid. This, as well as bloods for Central Hypothyroidism, should have been an urgent referral. I found out a few weeks ago I have been referred on the green pathway. I assume green is routine rather than urgent? I couldn't make this up! An M.R.I. done for a totally different reason, does not show a pituitary problem, but does show vascular disease of the white matter in my brain.
I'm sorry you're having such troubles trying to get a diagnosis. I must stress that I am not medical trained or knowledgeable in the least, I can only tell you my own personal experience.
So if you are not in the UK then what I am about to say might not be very useful.
My GP was able to organise a growth hormone test (which is not useful from a diagnosis perspective as growth hormone fluctuates for everyone during the day so you can have acromegaly and be within normal range or you can be negative for acromegaly but be higher than normal range. Mine was negative (but I knew it was useless for diagnostic purposes anyway).
However, I was under an endocrinologist for low potassium so I asked him to organise it. I am now under a specialist pituitary centre who say that a high (out of range) IGF-1 is enough to diagnose for them but my potassium endocrinologist wanted to confirm the diagnosis with an OGTT which my GP was also unable to do but did say that at his old surgery he had done these in the past - so it might be worth asking if you are in the UK.
A negative OGTT definitively rules out acromegaly. A small percentage of people with acromegaly do have a normal IGF-1.
A quick googles tells me that you can buy the glucose part of the oral glucose tolerance test for around a tenner but you need someone to test whether growth hormone is suppressed. Maybe this is something you could speak to your GP about - you provide the glucose and they provide the GH testing? (it's a 2 hour test with bloods taken every half hour).
Anyway good luck and I hope acromegaly is either ruled in or out for you so you can move forward.
Thank you so much for your detailed response, which I will write down and will be very useful. Unfortunately my G.P. is not even testing my thyroid bloods, vitamins or anything else. The G.P. view is that I have been referred to an Endo and they will test anything necessary. I have just had a useless full blood test done ( no idea the results), when it would be much more useful for an expert eye to look at my private 26 amino acid test, which speaks volumes. The following information may not help you but there will be forum members which it will apply to . An amino acid test may help many, if someone (likely a functional doctor), with expertise in this field deciphered the results. The following is a small , limited example of the insights available from an amino acid test.
Currently, at time of testing, I am minus 1.42% through the range for arginine which STIMULATES THE PITUITARY GLAND TO PRODUCE GROWTH HORMONE, and also stimulates insulin production . Arginine also has a role in releasing hormones.
I am minus 0.36% through the range for glutamine. No wonder I have a leaky gut. Glutamine is important for intestinal mucosa and building and conserving muscle mass.
Glutamine is an arginine precursor and it is glutamine and arginine which REGULATE GENE EXPRESSION AT BOTH TRANSCRIPTION and TRANSLATIONAL LEVELS.
An arginine deficiency is involved in multiple metabolic processes, so an arginine deficiency has potential to disrupt many cellular and organ functions.
I am 29.11% through the range for tyrosine, which Humanbean has highlighted as being the type of molecule which T4 is made of, plus 4 iodine atoms. Tyrosine is important for the adrenal gland, pituitary and blood corpuscles.
I am 5.93% through the range for tryptophan which can be low if have high levels of inflammation ( U.T.I. and vasculitis at time of test), and can cause intense fatigue and exhaustion. It is a precursor for Vitamin B6. This is highly relevant elsewhere too, some of which is to do with branched chain fatty acids , and their role in regulating blood sugar. The B4 enzyme is a co factor of brain specific tryptophan (5.93%). A B4 deficiency is grouped with PKU (phenylketonuria) and Vitamin B6 status very important in this. I have a double, homozygous CBS mutation. B4 enzyme can be depleted with a CBS mutation. A CBS mutation ( not fully cloned until 1998), will be diagnosed in many as a hypermobility syndrome ( e.g. EDS ,Marfans. ). The B4 enzyme is USED TO MAKE THYROID HORMONES. It regulates neurotransmitters and mood and detoxifies ammonia from the body. It substantially upsets the urea cycle as upregulation overloads it. My CBS mutations are up- regulators in general. One example of upregulation is selenium, which the deiodinases use to convert T4 to T3.
Sedative behaviour after food with l-glutamine (minus 0.36%), may be due to elevations in ammonia, via the CBS mutation. I have a GCH1, double homozygous mutation which can cause BH4 deficiency and can affect conversion of phenylalamine ((61.73%) to tyrosine ((29.11%). Tyrosine is important for the adrenals, thyroid and pituitary. Can accumulate to toxic levels and interupt output of neurotransmitters in the brain.
I am 7.21% through the range for Asparagine, which is important for energy metabolism. I am absolutely knackered most of the time.
The G.P. tested thyroid recently only because I handed in a private, NHS, MMH, thyroid result where TSH had dropped to 0.14 from 0.97. I had a U.T.I. at the time and this will be the reason TSH dropped. I have no idea what the result of their thyroid test was, and whether only TSH was done. If TSH was still below range , an Ft4 will have been done. Maybe even an FT3. Reception will only tell me that no action is required. When asked what the TSH was, I got shouted at and told that they are not medically trained, and I would need an appointment with a doctor to be given the result. I specifically wanted to know what had been tested as I was going to phone the NHS blood lab and have a go at getting them to test all 3 markers, TSH, FT4 and FT3. Since I asked the phlebotamist which blood lab my blood was being sent to, I think they may have guessed that this was my intention. I will have to fill in a patient access request and wait , probably 7 weeks, if the G.P. doesn't block it, to find out what my TSH was. If blocked, I would need a G.P. appointment to ask what my TSH was!!!!!
I have neurometabolic gene test results and in conjunction with the amino acid test, can see the u.t.i reflected in the amino acid results, which make perfect sense with the genetics and family history I have.
I have asked that they be referred to genetics , along with some very dodgy thyroid genetics test ,and to adult metabolics. I don't expect this to happen. Yet, to someone in these disciplines, the answer to the cause of my thyroid problem, and CFS of 36 years duration would be apparent.
I have a problem in my transsulfuration/liver pathway ( likely enzymatic block), which should be solved and treated , before the methylation problem which I have ( genetically lose vitamin B12 too quickly with CBS mutation).
I have fixed , or tried to fix methylation ( vit b12 and folate) first, which is the wrong way round. I don't have the expertise required to try to fix the other. To fix the other, it is things like carnitine, glutamine etc. that would be involved. These would have a knock-on effect on other amino acids, and without testing them again, is far too complicated for me with the limited knowledge I have to mess about with, unless I have to.
Jaydee recently posted a very informative link re. a Swiss website relating to histamine and food. It is very much on point for me. I have had problems with histamine in food since I was a teenager . As a teenager , too many tomatoes, strawberries or VINEGAR crisps would cause heat spots , which filled with fluid , leaked and crusted. My amino acid test shows 80.24% through the range for histidine.
This is a small sample.
Hope your treatment going forward is a resounding success.
In my case , "you can lead a horse to water, but you can't make it drink." My tired, old nag will die of thirst waiting for the NHS to do anything, as in my area you couldn't move it with a stick of dynamite! Size 9 in a shoe is problematic for a female. Any larger and I'd need to go barefoot!
One thing I've just remembered Wua, in Dec 2021 I developed pulsatile tinnitus in my right ear. I was referred for a brain MRI because apparently tinnitus can be caused by a vestibular schwannoma (another type of benign tumour). I had this done in Feb 2022 - I had an MRI without contrast, followed by one with. There was no vestibular schwannoma but also no one picked up on the pituitary tumour which was undoubtedly there even though they mentioned the pituitary looked normal.
I think it's an example of the invisible gorilla effect - they were looking hard for something else small in one place and didn't expect to find something small in another place so missed the pituitary tumour (or adenoma as they prefer to call it )
I had a specific pituitary MRI done in April of this year and that's when it was actually spotted.
Ah! My fairly recent brain MRI was done without contrast at the request of a neurologist, and was for a couple of episodes where I couldn't move my arms, as a nerve impulse did not reach the muscle type problem, as well as loss of feeling in the soles of my feet. It was not for pituitary investigation, though my optician had asked that I be investigated for a suspected pituitary tumour in 2014. I should have had an MRI in 2014 to check for this and didn't. Neither did I get an Endo referral for this. Vascular disease of the white matter of my brain was found. I expected this, as I have mutations for 2 very, very rare brain diseases. Though ill since age 30, the brain MRI was done at age 64 or 65, so the vascular findings have been written off to being age-related, and pituitary was not on their radar.I tried to get the neurologist to warn the person reading the scan about the 2 brain diseases as they can manifest in a certain way on an MRI. I asked the neurologist to include my genetic results (private) in my NHS records. He totally ignored them, didn't include them in my records, and justified it by saying it was not his speciality.
When I asked for my records in June 2022, the receptionist apologised and said I'd have to do a written request for the records but assured me that the records were mine and there should be no problems getting a copy.
Since then they've gone online and I can see all the results of tests done by the surgery online as soon as the results come through. It's a bit more difficult with consultant tests but their office has been helpful as long as the consultant has already discussed the results with me.
Sorry it's been so difficult for you. I really do hope things get better in the future.
Sorry to hear this but glad you finally found the cause. I wish you well with your op & hope the wait is short & your recovery is speedy. Sending you big hugs Xx
I actually feel quite lucky with this diagnosis, I'd rather have won the lottery of course but I was diagnosed quickly enough to have a micro adenoma and over 90% of people operated on make a complete recovery, because it's a type of tumour albeit benign, it's called remission and I'll be checked annually for signs of regrowth but all in all the outlook is excellent and it's a huge relief to have answers to why I am gradually becoming more and more unwell.
Thank you, I'm not so coherent in person, I have trouble retrieving the words I want, especially nouns and names plus I forget what I want to say particularly when I feel under pressure (like GP or consultant appointments) but when writing I can just look them up plus the wonderful edit function
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but I was diagnosed quickly enough to have a micro adenoma and over 90% of people operated on make a complete recovery, because it's a type of tumour albeit benign, it's called remission and I'll be checked annually for signs of regrowth but all in all the outlook is excellent and it's a huge relief to have answers to why I am gradually becoming more and more unwell.
Any advice for when i go and see the endo on tuesday
Do I Have Hashis? Blood tests borderline - Doc Says No!
Anyone heard of a test which can check if the thyroid is producing hormone.
