B12 deficiency genetic? Is it PA?

[vagabondbeauty]

Over the years I have never had a B12 test over 250, was finally sent to hematologist when it got to 155. I have been folate deficient and ferritin deficient (am now on shots and had iron infusions). For the last two years I have been tested and tested for everything under the sun to find a cause for my apparent inability to absorb these nutrients (IF negative, nothing autoimmune, stomach tests all normal, etc etc)

Went to see my 95 year old grandmother for mothers day and found out she almost died in her teens from B12 deficiency and has been having shots for over 75 years... And my one uncle also... Nobody mentioned this to me!!! Also a family history of anemia.

Grandma doesn't get shots monthly, more like every couple of months. Uncle gets them monthly. They don't call it pernicious anemia. It's just B12 deficiency. I don't know that they ever looked for a reason for them.

My questions are 1) Is this genetic? I am tired of having tests. If it's genetic we can just call it and plan on having shots forever. and 2) Do they have pernicious anemia? Are there other causes of this deficiency that runs in families?

I'm a little salty I didn't know about this. I'm pretty sure this has been an issue most of my adult life and doctors were quite clueless (was walking around with 180 B12, folate of 3 and a ferritin of 11, being told it was all "normal" and I felt quite crazy!!)

[wedgewood]

As your Grandmother and your Uncle are on permanent B12 injections, it sounds like Pernicious Anaemia . Otherwise their deficiency could be treated with tablets. That you had a negative Intrinsic Factor test does not mean that you don’t have Pernicious Anaemia. About 50 % of P.A. patients test negative to P.A. P.A. is often genetic . So yes, it sounds like you will need injections for life . You can live an absolutely normal life as long as you get sufficient injections . The frequency needed is different for each individual, after loading doses You need injections often enough to keep symptoms at bay.

Very best wishes .

[vagabondbeauty in reply to wedgewood]

Yes, I'm thinking this is the case. I am tired of the testing and with the family history I think I can just chalk it up to this. I'm finally receiving proper treatment and feel better than I have in a decade!

[wedgewood in reply to vagabondbeauty]

I’m so pleased that you are feeling the benefit of treatment .. That’s just great news!

[Gambit62 Administrator]

There does appear to be a genetic component to PA but, like many genetic tendencies, it isn't as clear as a dominant gene. There seem to be a lot of other factors involved. However, a clear family history does make it more likely that you will have PA

Serum B12 is a difficult test to interpret from a single measure. If your levels sat at around 250-200 for a number of years then it is likely that was the right level for you. The test only provides a snapshot and in most people B12 levels are maintained at the point in a large range that is appropriate to you. If you see significant drops in level or a steady downward trend over time - significant =20% fall or more (just because that is the accuracy of serum B12 test) that indicates an absorption problem which is the fall down to 155

[vagabondbeauty in reply to Gambit62]

I assume I had to be absorbing to some degree or I wouldn't have made it this far! But the earliest B12 test I received was in 2017 when I went to my doctor for fatigue. It was chalked up to "stress". Prior to that I'd been having numbness and issues and had actually gone in for IV vitamins about a decade before for similar reasons (they said I was too "skinny" and needed nutrients), I've had a positive lhermitte's sign since about 2005, and problems on and off with neuro symptoms, tongue issues and exhaustion. Docs kept thinking MS but my brain lesions were "migraine pattern" and no answers were ever found, I was on a seesaw of symptoms for years. In 2018 the wheels started to fall off, losing hair, hair turning grey, swollen tongue, etc. by early 2020 I was on a rower at my gym (I was very active) and simply could not go anymore. Got off, went home, called the doctor. At this point B12 was down to 180 and thats where my folate was 3 and ferritin was 11. She gave me a few shots (I didn't like them, I had weird reactions) kept treating me for thrush for my tongue (it wasn't thrush), sent me to neurologists, ents, cardiologists (my heart started some weird slow beat thing) and finally by 2022 to the hematologist. I was resistant to the shots and iron infusion, thinking I could "eat my way out of this" if it's just nutrients. Changed my entire diet, focused on B12 and folate rich foods, etc. This all failed and my B12 kept dropping. When I got to hematologist B12 was 155 and ferritin was 9. She was amazing, really understood what was going on and what had been going on for years. Pulled all my old tests and data and said you have been deficient for years and I am concerned about your bone marrow at this point if we don't do something now. Iron infusion and regular B12 shots later - I feel better than I have in a decade. I haven't had a migraine since. So I don't know that that number was my "normal", my sister runs about 600, my daughter about 500, my mother 800. It was never checked before I had symptoms. My hematologist said "you body has been just barely doing what it needs to to keep it alive" I could hardly do anything by that point - sheer determination kept me on my feet lol!

[Gambit62 Administrator in reply to vagabondbeauty]

thank you for clarifying that you don't have a read from before symptoms started

[vagabondbeauty in reply to Gambit62]

Yes, I have no idea why not with everything I had going on for years! I was "anemic" when pregnant (4 times) but just on a huge amount of vitamins. After that, with all the kids, I think the docs just put it down to tired or stressed.

[jointpain]

My grandmother had PA and was fed on raw liver in the early days, she died in 1982 bedridden. My mother was diagnosed with PA around 9 years ago, by her GP after a few shots of b12 and a blood test was pronounced cured, died a year ago being bedridden for three years, my father was diagnosed with PA and hemochromatosis by the same GP and died 18 years ago but no autopsy. My B12 has always been low until I started self injections of b12, when I started as the GP wouldn't, I was very infirm, the GP thought I had MS, I hope I don't, that was 5 and a half years ago. I would say PA or B12 deficiency is genetic. I'd also say GPs know virtually nothing in what it is or how to treat it.

[bookish in reply to jointpain]

I'd have to agree that GPs know little about it, generally, and also consultants who you might expect would. B12/folate metabolism is strongly genetic. I am the 5th of 6 generations with known PA or B12D and am currently having genetic testing although I doubt that it will be conclusive - as Gambit says, no one dominant gene causing the problem/s. My known issues are all on father's side yet Mum ended up with a 'not-certain if Alzheimers or vascular' dementia' and we only found out years after she died that her B12 had been low and her folate too, so I suspect her symptoms might have been at least partly resolveable in the earlier stages had we known that. (MS is a common mis-diagnosis I would say from my extensive reading.) How sad that your mother was deemed 'cured' after a PA diagnosis - they have no clue do they. With PA on both sides you are clearly doing the right thing self-injecting. Best wishes.

[vagabondbeauty in reply to jointpain]

Agree - I don't think they know much at all! I wrote a bit more of my story in response to Gambit above. Needless to say, years of a seesaw and until I saw this hematologist nobody thought B12 (and iron and folate for me) important enough to cause any 'real' symptoms!

[tomdickharry]

I had an aunt and a great aunt, both had to have liver injections every month. They had permanent open sores from the injections. I was diagnosed with PA 40 years ago but even now doctors don't want to know. My injections got stopped in 2020 so still self-treating.

[jointpain in reply to tomdickharry]

They must have "cured" you in 2020, like they did with my mother.

[jaybirdxNHM]

I have family members ,first being diagnosed in the 40s when PA was described.I was diagnosed in my 50s, after eventually seeing an elderly consultant who asked about family PA. He knew, GPs eventual stopped jabs ,started, stopped . I now SI and can relax . Mind you at 80, I could be carted off to an old folks institution, no jabs , cheerio world.😂😂😂

[wedgewood in reply to jaybirdxNHM]

That’s a terrible fear for you to have jaybird ! Keep self injecting as I do too , and you will be able to keep yourself out of any institutions !

[jaybirdxNHM in reply to wedgewood]

Thanks Wedgewood, happy jabbing.

[vagabondbeauty in reply to jaybirdxNHM]

I'm in the US and the doctors don't seem to have a problem giving or prescribing the B12 here (at least not in my area) it's just more that they don't know really how to treat. I think since the US fortifies their food they just don't see it as often here so they are quite clueless. I SI also (well my husband des it for me) but my hematologist prescribes it and the syringes for me

[GoneWithTheWind1972]

Hi. I too have questioned my mother’s family as to whether genetics plays a role in pernicious anaemia. My uncle has three monthly B12 injections, my aunt has recently passed away with dementia, another aunt has gastric issues and has problems with B12 absorption and not sure what is the underlying issue (I’ve suggested she check her B12 levels) and lastly my grandmother passed away with Alzheimers. My own mother has autoimmune Hypothyroidism and myself with autoimmune gastritis, pernicious anaemia and Crohn’s disease, thank you so much genetics, I say!

I’ve recently have finally got my B12 levels (for the first time in 5 years) above 1400 due to self injecting methylcobalamin daily in conjunction taking methyl folate supplements instead of folic acid and my complete bloodwork is now finally in normal range. With a bit of persistence and patience I’m finally in a good place health wise but I recently had an MRI to determine if I’ve sustained any permanent damage to my nervous system from being deficient and incorrectly treated for such a long time as I still have lingering peripheral neuropathy. Will post on this forum when I receive the results. I sincerely hope that you too will get all your results in normal range soon.

[vagabondbeauty in reply to GoneWithTheWind1972]

My MRIs have all come back with lesions but they say "migraine pattern". I've had ocular migraines since for years now. After iron infusion and regular B12 shots they have stopped!!! Here's hoping yours is okay too! Now I hope I start healing some of this damage

[WIZARD6787]

I personally go with there is a genetic component and all that is important as best I can I advise my family. It is hard as they believe that doctors know better than I do. It is sad to watch my brother suffer from degeneration of the spinal cord.