Please Help Us!!

[janey1234]

I posted on behalf of my 19 year old daughter about 18 months ago about her extreme fatigue, lack of energy, digestive problems, not feeling refreshed after a long sleep, etc. At the time she had a full blood count & thyroid panel (TSH & FT4 only) and I posted her results for your consideration (1st set of results). We looked again at her diet, dealt with a Vitamin D deficiency and her GP prescribed a course of Folic Acid & ruled out celiac with a blood test.

Over the past 18 months her fatigue has worsened, she still has little energy, suffers dreadfully with headaches behind her eyes (a few times a week) has had a head MRI to rule out anything nasty following an observation by her optician and struggles to walk without suffering extreme calf pain at the end of the day. She has also mentioned brain fog days & not remembering events that friends have talked about. Not sure if it is relevant but she has always been quite pasty & has cold feet & hands. While at uni’ she continued to go back & forth to her GP with all these complaints and apart from prescribing Ferrous Fumerate, when her Ferritin dipped below range, she got nowhere & continued to suffer with her symptoms. We have since found out that the GP put Chronic Fatigue Syndrome on her notes but didn’t tell her. Despite the negative celiac test she has been gluten free for 8 months and it has had a major impact on her digestive health in a positive way.

My daughter is now 21, graduated from uni’, has moved home & should be having the time of her life but she isn’t well enough to. In order to give her new GP a fresh set of results to work from, ahead of her first appointment at her new surgery, I paid for private blood tests to get a full picture of her thyroid and vitamin levels (2nd set of results). I posted the results in the Thyroid UK forum and it was pointed out that her elevated Thyroglobulin antibodies…280 (0 - 115) could be high for several reasons....Type 1 Diabeties, Pernicious Anemia, Thyroid Cancer, Hashimotos or Collagen Vascular diseases like rheumatoid arthritis. They also pointed out that an Active B12 result under 70 was considered suspicious.

We took these results to her new GP who agreed to do some of these tests (3rd set of results) and has referred her to an Endocrinologists because they didn’t know what her thyroid results meant. They have done an updated full blood count too which I can give you details of if it will help. For some reason her GP has also referred her to a Mental Health team (no idea why, letter arrived a few days ago). I haven’t included her thyroid results here as TUK are helping me with this bit. Here are her B12 & Folate results. I also have full blood count results should you need any other test results (1st & 3rd)

1st …18 Months ago...

SERUM B12 303 (180 - 700)

FOLATE 3.8 (4.6 - 18.7)

2nd …July 2018

ACTIVE B12 53.1 (25.1 - 165)

FOLATE 3.84 (2.91 - 50)

3rd … August 2018

SERUM B12 226 (211 – 911)

FOLATE 7.6 (>5.38)

Intrinsic Factor antibody 2 (0 -24) **I understand the unreliability of this test** Haemoglobin A1c level 37 (48 cut off for Type 2 Diabeties) ??

My apologies for the long post and thank you for reading this far. 2 years of doing everything we / she can to help the situation is getting us nowhere. Her diet is good, no alcohol, no late nights but symptoms are worsening and increasing. We haven’t gone down the B12 supplement route yet as we knew this could skew tests and results. I understand that this could be Hashimotos and the beginning of her thyroid journey (I’ve got the T-shirt for this one) but do you think her GP should be addressing her Active B12 level from July & low Serum B12 result from August? Or… should we just get on with it ourselves and try the B12 sublinguals (the route I took to raise my levels)? I don’t want to go down this route if this is more serious than a sublingual.

Thank you

Anxious Mum

[Gambit62 Administrator]

This is what the BCSH guidelines say in relation to the Active B12 test

Holotranscobalamin

Holotranscobalamin (HoloTC), the ‘active’ fraction of plasma cobalamin, may be more specific than serum cobalamin levels, and an immunoassay for this fraction is now available. In clinical research studies, the HoloTC assay performs better than the serum cobalamin assay in assessing deficiency based on MMA levels (Miller et al, 2006; Nexo & Hoffmann‐Lucke, 2011) and red cell cobalamin levels (Valente et al, 2011) as reference assays. However, arguments have been raised against accepting this (Schrempf et al, 2011; Carmel, 2012a), given that even MMA or red cell cobalamin may not be regarded as gold standard tests for determining deficiency. Despite this, the assay has a smaller ‘grey zone’ (uncertainty range) than serum cobalamin assays and better sensitivity and specificity characteristics.

The expected values for HoloTC in healthy individuals are 35–171 pmol/l. Lower and upper reference intervals for plasma HoloTC range from 19–42 pmol/l and 134–157 pmol/l, respectively (Refsum et al, 2006; Brady et al, 2008; Sobczynska‐Malefora et al, 2014). A recent multicentre study suggested a cut‐off point of 32 pmol/l of HoloTC for screening for cobalamin deficiency based on a MMA level >0·45 μmol/l (Heil et al, 2012). The GWG recommends that individual laboratories should either determine their own reference ranges dependent upon the particular HoloTC assay used or implement the manufacturer's reference range where a suitable study has been conducted.

Further studies are needed to evaluate the clinical utility of HoloTC in assessing cobalamin deficiency in a routine high output laboratory testing. It may cut down the percentage of indeterminate results, particularly in patients over the age of 65 years. There is the added advantage of use in pregnancy and in patients on oral contraceptives as the HoloTC fraction of cobalamin does not seem to be subject to the physiological drop seen in total serum cobalamin over the course of pregnancy (Greibe et al, 2011).

Given that samples for HoloTC analysis do not need any special pre‐analytical preparation, and can be stored for batch analysis, it appears to be a strong candidate for future routine first‐line assessment of cobalamin deficiency, particularly if costs of the test become favourable.

not entirely sure where 'anything under 70 is suspicious' comes from. Active B12 is a much more specific test and 70 is well into the normal range so B12 deficiency isn't an obvious suspect. The result quoted is also consistent with active B12 being about 20% of serum B12.

Folate levels have obviously been an issue and the BCSH guidelines do mention that folate absorption problems are a good indicator of potential B12 absorption problems. The presence of iron problems does also suggest absorption problems. Have you asked for a referal to a gastro specialist to see if there is a problem beyond coeliacs which seems to have been ruled out (but if she had already gone gluten free the results of that test will have been pretty meaningless.)

Not saying that B12 couldn't be part of the problem - just that it isn't obvious.

Possible that MMA and homocysteine tests might help to clarify but these are more expensive tests and may not be available without a hosptial referral.

[fbirder in reply to Gambit62]

Apparently the Active B12 test from Viapath says that 25 to 70 is uncertain and they do an MMA test if a sample is in that range.

That translates to ‘anything less than 70 is low’. For some people, anyhow.

[janey1234 in reply to fbirder]

Yes...that's where I also read it. I think they do the testing at St Thomas Hospital.

[janey1234 in reply to Gambit62]

Thank you Gambit62 for your reply . The bit about an Active B12 resulu under 70 being suspicious was from a reply over at Thyroid UK's forum when I posted her results a couple of months ago. I also read elsewhere, think it was Viapath, that results under that may need further testing. I did raise this with her GP but got nowhere except the intrinsic factor test and she also did another Serum B12 test.

She was tested for Coeliacs before going gluten free. My fear is that she is going to continue going nowhere except further downhill with her health. Unless a blood test goes below range it doesn't get noticed... and if we've raised concern over those scraping the bottom of the range, then we are told everything is ok. I fear also that asking now for a referral to a gastro specialist will be met with the same reaction, further delay her recovery, or not be approved. This has already been going on for 2 years, back and forth to GPs.

Would you still adivse against self medication for now, with a high dose B sublingual to see if we can raise her Active B12 levels? If her current Serum B level of 226 (211-911) falls below range, what action would her GP have to take?

Thanks again for your help.

[Gambit62 Administrator in reply to janey1234]

I'd suggest looking at options for MMA testing and asking about referral to a gastro about absorption problems before supplementation, but if you don't feel that you can face that then high dose oral/sublingual is probably the way to go.

[janey1234 in reply to Gambit62]

ok...we are going to try and get her an urgent appointment...thank you for your help ☺

[Saz16_]

Dear Janey1234,

I am a member of both forums and have read both your posts. I am 23 and have had a very similar experience to your daughter that I swear you could be writing about me.

After looking at your daughters blood tests she has the antibodies for Hashimotos. In under half the patients with Hashimotos, they can have another autoimmune disease called autoimmune Gastritis. This is when the immune system attacks the stomach lining as well as the thyroid. I believe it causes a reduction in stomach acid meaning U won’t be able to absorb as much iron, and then it eventually affect intrinsic factor which u need to absorb b12 into the body. I’ve added a page in for u to have a skim over.

ncbi.nlm.nih.gov/pmc/articl...

Having Hashimotos itself can make someone exhausted and feel ill as the body is attacking itself. I know in my personal experience I felt very unwell with this even though I didn’t know I had it.

Eventually my thyroid burnt out and I began thyroid replacement called Levothyroxine. When this day comes investigate T3 also called Liothyronine as this is a much better drug to treat Hashimotos.

I hope this helps!

Sarah

[janey1234 in reply to Saz16_]

Thank you for your reply. I too am a Hashi' , dianosed 2.5yrs ago and wouldn't be where I am today without the advice and guidance from the support network here and over at the TUK forum. It wasnt until I got a diagnosis that I found out that just about every female going back through my family (mum, aunts, grandparents, etc) was / is Hypothyroid. I am the first though to take control and not just pop a pill every day. I've learnt about the importance of folate, ferritin, B12, Vit D, etc and how TSH, FT4 & 3 work.

What has thrown me is her high TG antibodies ( I had high TPO antibodies instead) which can be linked to ither conditions other than Hashimotos & great looking thyroid levels. I also never had such low vitamin levels as my daughter so I am having to learn something new.

I wish you well...we Hashis have gotta stick together 😊

[natcap2]

Hi Janey1234,

Like Saz16_ you could be talking about my experience too. The very same thing started for me when I was 19 and at University. I could barely walk up the stairs I was so tired, muscle weakness, and I had a bad headache every day for a whole year, and frequently since. The doctors never listened to me, and thought I was a hypochondriac. I wasn't I ill, but I did then begin to have severe anxiety as nobody was listening. I cut out gluten and dairy and felt much better for ages. The problems never went away but I managed them and got on with my life with no help from the doctors. However, now in my 40s the problems have worsened and because I have more confidence and understand better how to get what I need from GPs etc, I have started to discover what is wrong with me. I have autoimmune atrophic gastritis and Pernicious Anaemia. I have the thyroid antibodies too, which I haven't addressed yet as I need to sort out everything else first. I was low in vitamin D and B12 due to malabsorption. I had a positive parietal cell test, which should be done when looking for PA. A positive result here indicates atrophic gastritis. My intrinsic factor was negative, but I still have PA. My B12 levels were just out of range, so not rock bottom.

I can't tell you what is wrong with your daughter, it sounds similar to me, but I can say that you should see a gastroenterologist. I have quite widespread atrophy of my stomach which makes me angry at all those doctors that never listened. Your daughter can avoid this by getting help now, and she has a concerned mother who can help which is great. A gastroscopy would be one way a consultant might check the stomach. The extent of my atrophy was not visible under the light of the camera, but was picked up through the biopsies taken at the same time. Consultants know little about atrophic gastritis in this country I'm afraid, as it is not at all common here. I am trying to find an immunologist or gastroenterologist that actually knows how to deal with it. There is no information about how fast if progresses or what the consequences are, other than the greater risk of gastric cancer (the risk of which is still quite low). I don't know if it just slowly progresses or flares under certain triggers like some other autoimmune diseases. So I am now on IM B12 shots. This has helped with all the other symptoms I have, but not with the stomach yet. But I am now on the low FODMAP diet, which might also be something for your daughter to consider for periods of relief when her stomach is bad.

Good luck with finding out what it is, and if it is PA or gastritis, she will have a really excellent chance of managing it and getting on with enjoying her life.

[janey1234 in reply to natcap2]

Wow! Thank you for your reply. Thankfully since going gluten free my daughters stomach issues have gone completely. Like me (2yrs gluten free) any slight hiccup and we get bad wind (sorry if you're eating...lol) & maybe a looser stool but other than that we both are niw fart-free with rose scented poop ☺. Interestingly I paid for her to have a food intolerance test which red-flagged dairy products and she has hugely reduced her intake.

There's so much to ask the GP for, not sure how they are going to react but we will get there...We just need to educate ourselves first.

Thanks again x

[Annkapp]

B12 and Folate problems usually go hand in hand. A genetic problem breaking down Folate can cause all sorts of problems (fatigue and ferritin being two). In addition, Your doc prescribed folic acid which is a synthetic version of B9 which the body doesn’t really know what to do with fully. I would try active B9 (like methyfolate or methyltetrahydrofolate) to see if it helps. Posting a link with tons of info on genetics related to B9.

Dr. Ben Lynch’s MTHFR website

[janey1234 in reply to Annkapp]

Thank you so much x

[Annkapp]

mthfr.net/

[Ela1]

Tryb resting her for Sjorgrens syntome, tiredness and headskes van be caused by that's...

[janey1234 in reply to Ela1]

Will look into that too...Thank you ☺

[Mico1]

I see there was a head MRI done, did this include the cervical spine area, the neck down to the shoulders?

I've now been confirmed as NOT B12 deficient, but do have spinal cord compression at C5 and C7; symptoms do crossover and can be confusing even to medical professionals.

spine-health.com/video/cerv...

[janey1234 in reply to Mico1]

Just a brain scan.

[Mico1 in reply to janey1234]

I know you're getting lots of 'try this and try that' at that moment. I'd insist on MRI of cervical spine if one has never been done. The problem with a lot of 'syndromes' and illnesses is that the symptoms can be easily confused with 'easy' suggestions. If there is a problem with the spinal cord you'll never know and spend a lifetime treating symptoms instead of the cause. Just my tuppence worth, good luck x

Take a few minutes to Google search you daughters symptoms and add' "spinal stenosis" and see what light it may shed.

If her bloods are showing elevated white cells, or similar signs, it can be because of a prolapsed or torn vertebral disc or general "myelopathy".

[janey1234 in reply to Mico1]

Thank you Mico1 ... will consider every possibility. ☺