Stressed over macrocytic anemia HELP

Met my significant other 9 years ago. He was anemic at that time with a hgb of 96. He at the age of 28 had been in a car accident and had to have a transfusion way back before he could have surgery. The hemotologist had followed him for the last 12 years as his hgb has declined with time to having transfusions every two weeks. I have done alot of research and he has had 3 bone marrows which showed no cancer just funky bloodwork with high mcv and hct. I started a b12 deficiency crusade as he has chronic gastritis and an inflammed bowel. Drs said b12 is ok at 241. He has history of his family having autoimmune diseases and inflammatory bowel conditions. His mother had pernicious anemia and beared 14 children in 19 years. There is also pernicious anemia in two of his fathers sisters. The dr. Put him on eprex which to me will make only more faulty blood cells. We argued to trial B12 loading doses to see if the anemia would turn around. He feels great other than his low hgb symptoms. Once again his blood has reached 73 and we are on our way for another transfusion tommorrow. Does anyone know how long it would take to turn the anemia picture around after b12 dosing. Also thinking he may be missing the gene to convert the b12 injection doses as they are not active b12. Maybe we should supplement with sublingual methylcobalamin? Any advice or reccomendations are appreciated. We are just not happy to have the bandaid effect without a diagnosis and are willing to trial anything in the meantime.

6 Replies

oldestnewest
  • Hi Wljs. Hello and welcome. And hmm this all sounds a little complicated!

    First, I'm wondering what investigations the haematologist has done to try and determine the cause of the constantly declining hb...very curious that they are simply transfusing every two weeks to maintain his hb.

    To answer your questions...

    We always advise not to take any form of B12 supplements prior to investigation and diagnosis since this will push up the serum B12 levels, skew any further blood tests, and make getting a diagnosis and treatment even more difficult. In addition, even if B12 levels are pushed up a little (enough to prevent diagnosis), where absorption issues are present it is unlikely that enough B12 will be absorbed to have real theaputic value - only injections can do that.

    About the missing gene...this is quite rare and can only be determined by genetic testing. I'm not good at the genes so very simply, there are three generations variants that might make a difference. One responds to taking a different form of folic acid (methyl folate) another gene might respond better to methylcobalamin, and with the third - methylcobalamin or methyl folate should not be taken (and some people without any gene variation react quite badly to methyl folate). So it's quite difficult. And having said that, the majority of people can convert hydroxocobalamin and cyanocobalamin (the two most used form of cobalamin so) to methylcobalamin and adenosylcobalamin in the body. (You'll read a lot on the Internet about methyl cobalamin being the 'superior' or 'active' form of cobalamin (B12), usually put there by people who are selling it. There is no one superior form...it's just a matter of what works for different individuals.

    (As I said, genes are not quote my things so perhaps if someone with more knowledge sees your post, they'll be able to give more precise information about the specific genres involved - sorry, getting a bit late and I don't have time to look it up and check right now).

    B12 therapy can only rectify macrocytic anaemia if it's caused by B12 deficiency...and there are other potential causes. Would take three to four months to rectify if B12 deficiency is the cause (or one of the potential factors involved).

    So...it would be much better to try and get to the bottom of what's going on, rather than attempting to self-treat before tests and investigations are done.

    And I have to say, in view of the history and constant problems with raised MCV and HCT, I'm surprised that B12 deficiency seems to have been ruled out by your doctor/doctors.

    So, the strong family history of autoimmune conditions and in particular, pernicious anaemia, together with the chronic gastritis and inflammatory bowel disease are all things that could indeed lead to B12 deficiency, whether due to pernicious anaemia and/or the absorption problems (and resulting deficiencies) that both gastritis and inflammatory bowel disease can lead to.

    You don't give the reference range for the serum B12 result but a level of 241 could indeed be low enough to result in B12 deficency, and the symptoms that go along with it. And it is possible to have B12 deficiency even if B12 levels are within (or well within) what's called the 'normal' range (your GP - and possibly the haematologist - may not know this).

    So first, look at the symptoms list that I'm going to give in some links below and see if your significant other 😀 has any of the symptoms of B12 deficency (you might be surprised to see that there are symptoms there that you didn't even know were symptoms - many are).

    The next thing to say is that the symptoms of having a low hb can be very similar to the symptoms of B12 deficency, so it might be difficult to distinguish between the two.

    Unfortunately, there is no gold standard test for either B12 deficency or pernicious anaemia and diagnosis often rests as much on the presence of symptoms as it does on test results - thought not many doctors recognise this.

    Just wondering if your GP or haematologist has done any of the following tests (or referrals):

    Anti-IF antibodies - test for PA. But misses 50% of people with PA - prone to false negatives. But a positive test is indicative of PA.

    MMA blood test - MMA will be raised in the presence of B12 deficiency - perhaps a more useful marker of deficiency than serum B12 (Note: active B12 not much more useful that serum B12, since both only tell you how much B12 is in the blood - not what's happening at a cells level. MMA indicates whether or not B12 is being processed at a cell level - much more useful in determining presence of absence of B12 deficency (but can also be affected by other things).

    Homocysteine: levels raised in B12 deficiency but can also be raised in folate deficiency (and other things) so not quite as useful as MMA - but still worth asking for this to be tested.

    Folate levels: B12 and folate work together so,if folate levels are low or deficient, the body cannot utilise B12 properly.

    Assuming your doctors are keeping an eye on ferritin levels and doing full iron panels on a regular basis? And there are many different types of anaemia...only a very few potentially connected to B12 or iron deficiency...presume your haematologist has investigated all potential causes? If not, I'd certainly be looking for a second opinion (your right to do this if you think the treatment or care is lacking). Same applies to getting another GP to re-assess treatment - perhaps a different GP in the same surgery, or a new GP if really unhappy with the treatment and care on offer.

    Here's a useful site that gives lots of information about the different types of anaemia (bit difficult to navigate...just press everything and investigate at will 😀):

    irondisorders.org

    Gastric problems and inflammatory bowel disease - usual to be under the care of a gastrologist - or have seen one for appropriate diagnosis via colonoscopy and endoscopy. Gastrologist would also rule out Crohn's / Coeliac disease - two inflammatory conditions that can cause absorption problems and B12 deficiency, look for evidence of autoimmune metaplastic gastric atrophy (the fourth stage in the development of pernicious anaemia) and take biopsies for analysis etc).

    You also mention surgery following a car accident - if this surgery involved removal intestnes (in particular, the illeum) this could also result in B12 deficiency.

    B12 deficency - from any cause - is quite complex and I think the best thing you can do first is to start pushing the GP/haematologist to take your concerns seriously and undertake further testing (if these tests haven't been done already - particularly the MMA).

    Most people find that the best thing to do is to become this own experts (sounds as if you've already started that 😀). No idea how much information you've gathered so far so I'm going to post some links to information and guidelines below that will tell you what the diagnostic and treatment protocols are that your doctors should be following (many are unaware of these, and don't bother 😖).

    Once you've had a read, you'll be more aware of what your doctors should be doing and this may help you to approach them and ask for further testing and treatment (if necessary).

    It does sound as if B12 deficiency may be a problem and given the medical history and quite low level of B12, it would not be unreasonable to expect your GP to treat for B12 deficency and prescribe B12 injections - even if only for a therapeutic trial.

    B12 is not addictive, toxic, or in any way dangerous and if a therapeutic trial works, then your significant other's health will improve, so it could only be a win win situation.

    So good luck, do approach your doctors again about this, post again if you need more help or advice (especially if your doctors are still reluctant to take this seriously)...and here come the links (most are only one page long so don't panic when you spot how many there are):

    b12researchgroup.wordpress.... (Serious Caution Note about the use of Oral and Sublingual B12 Supplements)

    evidence.nhs.uk/formulary/b... (BNF B12 Deficiency: Hydroxocobalamin Treatment Regimes)

    pernicious-anaemia-society.... (PAS Symptom Checklist)

    stichtingb12tekort.nl/weten... (BSH B12 Deficiency / PA Diagnostic Flowchart)

    onlinelibrary.wiley.com/doi... (British Society Haematology (BSH) Guidelines: Treatment of B12 Deficiency and Folate Disorders)

    cks.nice.org.uk/anaemia-b12... (NICE Guidelines Treatment of B12 / Folate Deficiencies)

    onlinelibrary.wiley.com/doi... (UKNEQAS B12 Treatment Alert, Neurological Symptoms and Risk of Subacute Combined Degeneration of the Spinal Cord)

    stichtingb12tekort.nl/weten... (Problems with Serum B12 Test)

    stichtingb12tekort.nl/weten... (Testing B12 During Treatment)

    stichtingb12tekort.nl/weten... (Misconceptions About B12 Deficiency – Good to Know Before Seeing GP)

    stichtingb12tekort.nl/weten... (B12 Treatment Safety / Long Term Treatment for neurological symptoms)

    stichtingb12tekort.nl/weten... (B12 Deficiency: Neurological Symptoms Can Present Even When B12 is ‘In-Range’ and Without Macrocytosis (large red blood cells) or confirmed PA Diagnosis)

    stichtingb12tekort.nl/weten... (B12 and Intrinsic Factor)

    gov.uk/drug-safety-update/n... (B12 & Nitrous Oxide Contraindicated)

    👍

  • Yup, ask for MMA and hCys tests to be done. They will give a very good indication as to the possibility of the problem being to do with B12 and/or folate.

    If either or both of those indicators are raised then you'll be much closer to sorting out a solution.

  • P.s. Forgot to say...ask the GP to test for heliobactor pylori - a bacterial infection that affects the stomach (those with autoimmune conditions are more susceptible to this - thinking family history here).

    Heliobactor pylori (HP) causes chronic gastritis (or acute on chronic gastritis) and B12 deficency. Your GP can do a simple breath test for this (go fasting if you are wanting to have it done immediately).

    If present, eradication therapy via triple antibiotic regime will be required - with a further breath test two weeks after treatment to ensure that eradication has occurred (I had to have two course of treatment to get rid of mine 😖).

    👍

  • Hi,

    Are you in UK? Different countries have different patterns of treatment for B12 deficiency.

    Nitrous Oxide

    As he's had surgery in past, I wondered if he had nitrous oxide as part of anaesthesia?

    Link about nitrous oxide

    gov.uk/drug-safety-update/n...

    Who gets PA and B12 deficiency?

    pernicious-anaemia-society....

    b12deficiency.info/what-are...

    b12deficiency.info/who-is-a...

    Another B12 website

    b12awareness.org/

    B12 books

    "What You Need to Know About Pernicious Anaemia and Vitamin B12 Deficiency" by Martyn Hooper

    "Could it be B12; An Epidemic of Misdiagnoses" by Sally Pacholok and JJ. Stuart

  • As for the testing, he has seen 3 hemotologists in 12 years. In the last 10 years he has had tests for kidney disease, liver disease,intestinal bleed( scope up and down) , hepatitis, aids, bloodwork galore Said they checked his folate and b12 which was 241. He has had three bone marrows no change, large rbcswith small nucleus, immature blasts . Last bone marrow and biopsy sent to the mayo clinic looking for leukemia and blood cancers, none. Genetic testing done there as well no findings. He also has been diagnosed with CAD with a 25% blocked artery but his cholesterol is excellent requiring no medications. Hmmmm so why would he have heart disease without a cause? Another symptom of b12 deficiency ... High homysystene?? Although he has been severely anemic for the past ten years he said he don't feel sick, no weight loss, he has a cough and seems to spit a lot and he is what I call my seagull ... Eats and goes immediTely after eating. He has difficulty digesting meats, eggs, and dairy. he has had a recent episode of inflamed epiloic appendagitis ( that is what they felt in the cat scan anyway, but when I asked the GP for a referral she said I don't feel it is nessesary as you had a scope done 4 years ago they found nothing !!! The GP simply stated at our last appointment that she felt we come to appointments in an anxious state about Mikes situation and her exact words were Michael, you have had more testing than most of the people in my practice and I feel your medical condition is beyond my expertise !! We were shocked with her response ! As well I questioned the hematologist about mikes b12 tests and he said he has always been in normal range ( never above 299) so I said what testing have you done for pernicious anemia. He said none! As his b12 was in normal range !!! So I said Mike has had macrocytic anemia in excess of 20 years, with a wait and watch approach, and a bandaid affect only comforting his concerns. I mean seriously folks ask someone that has been anemic for twenty plus years what their symptoms are .... How do you know what is symptoms when you have been this way life long? The only time he is symptomatic is when his hgb goes down hill. He has back pain and his fingers contract, muscle twitches, headaches, fatigue and irritability he has problems walking and he is very irritated and neurotic ! But seriously folks wouldn't you be living with his " undiagnosed issue of 20+ years with only a watch and wait approach? Like leave him b12 deficient for years so his body eventually dies because he can't take any more transfusions? I mean I am a nurse sitting by watching him go through all of this! Frustrated yes I see the elderly every day just kept comfortable and neglected to be given medications to help them. I actually help my dr on the floor as she is not there daily to see their symptoms I am ... Trust me I am a dedicated health provider to all I can help. But why just wait and watch .... The movie Sally Paclok did is an eye opener and I see Mike heading down the road of irreversible damage .... Only because Drs. Want to wait for something to poke its head out .... Seriously we demanded b12 shots this week no more waiting ... His hemoglobin went from 80-85 after 3 injections, but he did have a tight pain across his stomach ( probably his liver replenishing the b12 stores that have been o for so long. I know it is not a quick fix his body has been this way for 20 + years but you know in the meantime while we r waiting for something to poke its head out we might as well try this 10$ fix eh.? Will keep you all posted Mike had another transfusion of two units of red cells yesterday ... Hoping in the next 8 weeks to reverse it all ! Will keep everyone posted . Cheers ! It's amazing this macrocytic anemia that has been left to the point of it being fatal ... And they still don't get it !!

  • I am also starting oral b12 as I have a risk factors

    Over 50, inflamed stomach, PPI user, menopausal, mother with pernicious anemia, and hypothyroid ... I think I will save myself the aggravation and just self treat ... Enuff said lol

You may also like...