Dead-end at haematologist appointment-what next?

I'm feeling slightly cornered and not sure what to do.

I'm became very unwell in March with an array of symptoms including extreme weakness, lightheadedness, joint pain, motor weakness, stomach problems. I'm so weak I can hardly walk. An FBC showed macrocytosis (I also learnt today that I've had a slightly elevated MCV since 2003) and a B12 test was ordered and it was 243 (I had supplemented prior to this as test was unexpected!). I was referred to a neurologist who tested my reflexes (which were fine). She also ordered some tests but is trying to brush me off with “it's just anxiety”. The ANA test she ordered has come back as “weakly positive”. I saw a haematologist today and she was a dead-end. She said I really needed an MMA and homocysteine test in March – but I've missed that boat as I was refused so started to self inject in May. She cannot investigate my macrocytosis because it is not enough outside of range (last reading was 99.8). She is going to have a look at my blood under a microscope and possibly order a paraprotein..but basically said there's nothing she can do because I have not been diagnosed with pernicious anaemia/B12d and nothing else is 'abnormal enough'. Intrinsic factor test came back negative.

I've been injecting daily for nearly 6 months with no significant improvements (dizziness and joint pain slightly improved). So all I have is mild macrocytosis, weakly positive ANA and a whole lot of symptoms. It is not anxiety-I know my body to know that something is wrong with me. What other tests can I request? Any advice on what steps to take next?

Following have all been checked and were OK: ferritin, folate, thyroid, vitamin D, liver function, diabetes

Thanks for comments.

12 Replies

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  • Most of those labs you mentioned may be classified as "normal" by the GP but may not actually be. Best to get a copy of your results and post the them online to get a second opinion. Cortisol is another hormone you might want to get tested, depending on symptoms.

    Edit: have you had calcium checked?

  • Thanks for your comment. I've copies of everything (not to hand) and everything is fine, good middle range. The exceptions were B12 (243) and ferritin (42) and I'm supplementing both. Calcium was checked and was just within range. Perhaps 2.22 if my memory is correct!

  • If calcium was 'just within range' it might also be worth getting PTH checked (parathyroid hormone). High calcium / hyperparathyroidism can be another cause of fatigue, pain, etc. Just throwing some ideas out there in case one sticks LOL!

    What Foggyme says is also interesting about high folate. Just to add to that - during my reading of past forum posts, there were a couple of people who were injecting B12 quite frequently for an extended period of time, and reducing the frequency of injections actually made them feel better. I don't think I could find those posts back now though. Something to consider.

    Good luck. I know what's it's like to go around in circles and not get relief. Hope you figure it out soon!

  • Parathyroid issues are on my suspect list. My calcium was actually just within the lower end of the range - but I had elevated vitamin D as well which I've read can be a link..

    I will consider reducing injections. During August and September I had significant improvement in my bladder issues (urgent, frequent urination). I'd say it was 50-60% better. My mum, who usually injects me went away for a week early Octoberand I injected subcut whilst she was away. After 2 or 3 days my bladder issues which appeared to have resolved, reappeared and I was weaker than ever. It was quite an overall deterioration. I don't know if it was a coincidence but I've been reluctant to either reduce injections as a result. I have only just started to inject IM regularly again so I'm keeping a close eye on my weakness and bladder to see if they'e some sort of B12 marker/clue. If both improve a little over the next week or so, perhaps it's fair to say that daily B12 IM injections are perhaps helping a little-or certainly preventing further deterioration.

  • You say your thyroid results were OK. What was tested and do you have the results with ranges ? Often they test the TSH which is only part of the story

    Tests required - TSH - FT4 - FT3 and the anti- bodies TPO & Tg.

    There are many overlapping symptoms with B12D and low Thyroid along with similar difficulties with diagnosis and receiving the correct treatment ...

    Hope you soon find some answers.

    I am not a medic - just a Hashimotos gal with a B12 issue 😊

  • I had the whole thing tested privately and it was fine. Results given the thumbs up by the Thyroid group on here...

  • Great news ! Always good to eliminate things when on the journey to wellness :-)

  • Hi Booksellercate. I've just had a trawl through your past posts and oh my goodness, what a pickle you're in. I'm so sorry that you're feeling so ill and not a little 'miffed' that your GP refused to treat your low B12 levels when you first presented with them. But oh how commen that is here!

    There aren't any easy answers to offer, but here are just a few thoughts that might (or might not) give you some things to think about.

    I note that fbirder, gambit62 and PAS Admin have all commented on your high folate levels...so here's some additional information...

    Many people think at high folate levels are not a problem but this is not necessarily the case...and the last result I saw posted for,you was very high indeed. When injecting with B12, not everybody needs high folate supplements, especially if you weren't deficient in the first place (I wasn't, overdid it with the folate supplements...and suffered)!

    Over supplementation can cause (for some people) ...fatigue, dizziness, headache, nausea, insomnia, muscle cramps, difficulty in breathing...to name but a few side effects. Over supplementation might also lower blood sugar levels, lower blood pressure and may cause interactions with other medications and herb supplements. So...might be worth reducing supplementation and asking your GP to. I it'or levels until they fall within the top third of the reference range. There's much more information about folate and it's side effect...check out mayo clinic.org / folate if you want to see read more about this.

    Interestingly, over supplementation can cause low blood sugar and low blood sugar can cause artificially elevated MCV's. Don't know if this is relevant, but it might be.

    Anti-nuclear antibodies (ANA). A positive result means that autoimmune antibodies have been detected in your blood and can be indicative of an underlying autoimmune condition, or it could be indicative of viral infection (in which case it returns to normal quite quickly), or caused by some medications. A single positive result, on its own, does not mean that you have autoimmune disease (especially if the result is 'weak') - and it could be what's called a false positive. It's something your GP should keep an eye on and not simply ignore (perpahps re-test to see if it's returned to normal or increased). ANA is non-specific diagnostic tool - it won't tell you what condition you may have, but indicates that other investigations might be needed. For instance, referral to a rheumatologist for investigations related to possible autoimmune conditions (Lupus, rheumatoid arthritis, polymyalgia rheumatica....to name but a few...there are lots of other autoimmune conditions. Unfortunately).

    Do any other members of your family suffer from autoimmune conditions (unable to see if you've mentioned this in your other posts). If so, you are more likely to do so and your GP should probably investigate further now. Especially in view of your highly symptomatic state (symptomatic of something - even if nobody knows what that is right now 😀).

    And so on to...inflammatory markers. Has your GP tested ESR, C-relative protein (CPR) and plasma viscosity (PV)? Again, these are non-specific diagnostic tools but if any of the levels are raised, is will show that you have some sort of inflammatory condition, which should be investigated further.

    High levels in inflammatory markers together with positive ANA (albeit a weak one) is certainly something that should be investigated further (rheumatology referral).

    Interestingly, I have very similar symptoms to you...with a positive ANA result (apparently very high) and have a rheumatology appointment at the end of November - so we'll see!

    Others have given plenty of advice about B12, so I'll give that a miss here.

    Sorry I can't offer anything more than a few thing to think about.

    Hope you manage to get some answers soon.

    Please take care and post again to let us know how you're getting on...especially if you find some answers...so many people looking for these 😀.

    P.s. I also note that you refer to 'wear and tear' of your cervical spine. I have disc herniations at Cervical 3 - 6, with no spinal cord involvement...so probably just degenerative changes. I assume that you also have no spinal cord involvement 'cause your neurologist would have told you? So some (but not all) of my symptoms may be due to this. Just started physiotherapy as this sometimes helps. Has you GP offered a Physio referal - might just help...and even if it's only a bit, every symptom relieved is a battle won 😀.

  • Hi Foggeme-many thanks for your detailed and thoughtful message. A pickle is a polite way of putting it. The last few days I have taken 2mg folate – as I'm running low but I haven't noticed any difference in how I feel, although I guess it's too early to say. As my levels are high I would be willing to lay off for a couple of weeks (think my shrinking bank balance would thank me too!) as an experiment. Or would it be prudent to continue with a maintenance dose of 400mcg?

    I don't yet know what the neurologist intends to do with the ANA test result-I don't know how soon a follow up test could sensibly be requested. Her letter mentioned that the follow up appointment (next year) would proceed as normal so I know she does not intend to investigate imminently at least. It is one of the whole things to go on at the moment. The neurologist is trying to brush me and my long and diverse list of symptoms off with “just anxiety”. I turned up to the consultation in a wheelchair, with my last doctor's appointment before I became ill in 2003!

    There are autoimmune diseases (Graves disease/hyperthyroid) in the family yes.

    I don't think I've been tested for CPR, at least I can't find it on any blood tests. (although it rings a bell; perhaps I've just come across it in my reading). I've certainly not been tested for PV or ESR. I'll add it to my list although I think my days with the haematologist are numbered. I assume any consultant can order these more general tests.

    Thank you for some ideas. I hope the doctors agree to some of these tests, I've had to fight even for a ferritin test! I really do feel absolutely awful. I'm housebound after 35 years of health, running around and climbing mountains and this is tough to accept-especially as the doctors are not as helpful as I'd like. I'm worried about being 'written off' with something like CFS or some other non-specific illness.

    I asked about the cervical spondylosis and she said my spinal chord was not being touched (or words to that effect!)

  • Hi Booksellercate...and runner, mountaineer extraordinaire...just to keep it in mind 'cause this is still who you really are 😀.

    First, the neurologist...'just anxiety'...disgraceful...how dare he...but that attitude is all too common, as we all know. I'm constantly horrified by the lacsidasical approach many medic's take to our health (and I'm being really polite here).

    So...Graves' Disease / hyperthyroidism in the family. And also, hence, the possibility of other autoimmune conditions.

    Out of my comfort zone with Graves / hyperthyroidism, but here's one thought. I've looked at your thyroid levels posted earlier and they do look okay but...in view of the Graves connection etc., note that you have not had Thyroid Stimulating Immunoglobin tested (as I understand it - but I could be wrong - usually done if history of Graves' in family and doctor cannot difinitively diagnose Graves' from symptoms or TSH, T3 and T4 levels).

    Next - seems to be a bit of a dead end with neurologist and haematologist, so waiting for more dead end follow-up appointments - oh dear, oh dear!

    And if they break the current jerky mild and decide to refer you on, then the 'form' would be to write to your GP and ask him to do it. So more waiting.

    A rhetorical question - do the professional folks know that you have a history of autoimmune disease in the family? If so, they seem to be ignoring a few red flags!

    If this were me, here's what I'd do:

    Go back to your GP and update him about the positive ANA test, ask him to run blood tests for inflammatory markers (as per earlier reply) remind him about your autoimmune history - and the possibility of also having other autoimmune conditions (including Graves). State firmly that this has been going on for too long, you are highly symptomatic (of something - not anxiety), you have no quality of life at all, and that its time other investigations were undertaken. Then ask for a referral to an Endocrinologist (for investigations of Graves / Thyroid / Pituitary / Adrenals - and anything else the endo thinks advisable). At the same time asked for referral to a Rheumatologist - for investigations of your positive ANA test (a whole host of possible autoimmune conditions - or not - but you'll only know if referred and tested).

    Also note - when you had your previous thyroid tests done, these may have been skewed if on birth co troll pills or aspirin...and probably other things that I know nothing about.

    About the folate - and this is just a common sense approach - it's sound likely your folate level may be so high because of over supplementation. In view of that, if it was me, I'd stop the folate until levels are in the top third of the reference range, and then supplement 400ug daily. Perhaps your GP would monitor for you?

    But also (and there's always a but 😖) be aware that some people with B12 deficiency have high folate levels, without supplementing - so if you stop the folate and feel worse, it might be something to do with how your body deals with folate. Post again for advice if this happens as there are others here who know much more about this kind of issue than I do.

    But on balance of probability, might be that righting the over supplementation might do the trick.

    Hope your GP takes you seriously...he seems to have done a bit of a 'fobbing off' trick so far. In asking for referrals (times two) you are not being unreasonable given your current health and family autoimmune history.

    So you just go for it...just pretend it's a mountain that you have to conquer...which is much what dealing with medic's happens to be. Unfortunately. Sadly.

    Anyway Booksellercate, very good luck and please let us all know how you get on 😀 X

  • FoggMe,

    Thank you for your response. I will try to keep my hiking in the Andes days in mind (although the mere idea seems like a joke in my current state!).

    You make some excellent suggestions for progression-and that is what makes this worth fighting-the forcing open of new avenues to explore..until the cause is 'found'.

    I have set the ball rolling for my next GP appointment. I must ring the surgery at 8.30 on Wednesday to get an appointment with my preferred doctor (whose B12 knowledge is basic..but he does usually listen and that is the next best thing). I have a back up appointment for 23rd November as well. I will make a plan for the consultation – the referrals for the endocrinologist and rheumatologist sound reasonable. I will impress on my doctor that impact this has had on my life. I should probably brush up my letter writing skills as well.

    Thank you again for your clear and sensible suggestions.

  • Thank you and no problem Booksellercate. Always worth pushing to have everything possible ruled out - or in 😖. I'm currently doing the same....it's a bit of a tease...but onwards, I say.

    Keeping my fingers crossed for you. Would be very interested to hear how you get on. Good luck 😀.

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