Has anyone done any genetic testing for B12 deficiency? If so, what ultimately did you achieve?
I'm looking to get tested as I want evidence that I have a problem processing B12. My hope is that it will put an end to the common dismissal that I/we experience. "B12 isn't a [or your] problem".
Also, here's an article if any one is interested:
I haven't but I'm definitely interested in this line of thinking!
I was tested as part of a package aimed at sports/nutrition.
It gave me some helpful stuff like I’m very sensitive to caffeine and should minimise intake. I guess that confirmed what I already knew though.
For B12, it said everything was fine, no special mention of anything and I think that is also what I expected. I have PA which means that antibodies have attacked my stomach lining and also attack intrinsic factor so I no longer adequately absorb B12. However, before the autoimmune/antibody problem my B12 levels were (I assume) fine.
What I’d be much more interested in would be gene testing to look at my autoimmune issues!
So I’d say that if you have confirmed PA you’ll be wasting your time having a test to look at B12 absorption (unless it also looks at the autoimmune side of things).
On the other hand, if the reason for your B12 issues is a complete mystery then maybe gene testing would be interesting/useful.
how do we look at the autoimmune side of things with or without gene testing? I should rule that out before my test. All I know about is IF.
I had parietal cell antibody testing. It's not used in isolation fot diagnosing PA.
At the time I had no idea about IFA test to ask so have never had it done.
Just know an absorption b12 problem.
Might be useful as is an antybody test. ??
My GP has carried out several autoimmune related blood tests over the years.
I can only remember the ones that I returned a positive result: parietal cell antibodies, intrinsic factor antibodies and more than one type of thyroid related antibodies.
There were definitely several other tests eg for coeliac but these came back negative.
I think the GP referred to them as an autoimmune panel.
Thank you for posting this interesting article B12life.
Two members of our family have had gene testing, which showed up difficulties with absorption of vitamin B12, D and various allergies.
I suppose any concrete evidence of malabsorption helps us feel more confidence in our own research, diagnosis and self treatment, as well as aiding the rest of the family to watch out for symptoms.
It seems a sorry state of affairs though that, with tests so unreliable, many doctors aren’t prepared to acknowledge this or treat when its such a relatively cheap but effective remedy and can do no harm.
I’m constantly asking myself why it should be such a stressful and complex process after Murphy, Miney and Whipple won Nobel prizes and Addison carried out such effective research so many years ago; Dr J Chandy, Sally Pacholok, Martyn Hooper, have all written excellent books with well researched evidence in clinical practice that lives can be saved or rescued from disability.
Personally, it was only after I wrote to surgery with family history/symptoms and had, ‘B12 Deficiency in Clinical Practice”, by Dr J. Chandy, delivered to the surgery, that I was eventually offered an IF test.
Do any of you have the specific genes that were tested? If I can’t get all the ones mentioned in the article tested, then I may pick the most likely candidates to be tested.
have they identified the genes related to B12 absorption issues? i was only aware of the intrinsic factor test which has nothing to do with gene testing. gene testing is typically more involved and expensive and they do it for cancers in families with a known history but have never heard of any such thing for people with b12 issues.
yes. gene testing is expensive. And ultimately unnecessary. Before I go for the genetics test, I will double check that I have done everything else.
Why do I want the genetics test if the treatment is the same? My answer was, I'm tired of arguing for non-text book treatment, aka frequency of b12. What if I loose the doc that currently helps me?
I also think I can get more docs on board with a genetic test. It's harder to deny a genetic anomaly.
I'm in the process of finding a reliable lab to do it, not just the 23andme and the cost. Before I do the testing I will for sure double check the things I could test that genetics tests wouldn't catch.
I have had an endoscopy, I need to go back and double check that they looked for everything; I haven't as I have been collecting the info on what to look for, which means scanning all the advice from PAS literature.
I posted about genetics testing to see if anyone has had it done and found any anomalies.
very interesting and thanks for bringing this up. i'm to hear if you do get it done. i'm in a similar situation where i don't know the cause of my deficiency. i've had an endoscopy, colonoscopy, MRI w/ contrast, and every blood test known to man. Everything has been normal except for my B12 which was 122 prior to starting injections despite a healthy diet.
Same here .Very good mixed diet.
Not eliminating anything.
First ever b12 106( 200-900)
The menopause was my trigger.
No other medical problems or medication before thus .
Other bloods apart from cholesterol rising and low vit d started before this.
Didn't have an endoscopy.
But 2 Mris
1 CT
Many many blood tests . Not IFA one?
Daunting now incase shows negative abd used against me.
I've fought hard for NHS b12 frequency.
Hard at times with no explanation.
My autoimmune issues started with having Graves’ disease in the run up to menopause and then PA post menopause.
Menopause definitely a trigger
Same diet. Same lifestyle
Symptoms get assumed as menopausal symptoms.
Scary when I look back .
I knew if wax more.
Also so out of character getting fobbed off ax stress and no blood done
Symptoms for me have ramped up massively over last 2-3 years, coinciding with menopause.. this seems to be a very very common theme...
My daughter had a serum b12 of 82( 200-900) very low folate 3 I think megobolastic anaemia low ferritin .Got POTS
Hospitalised ( a rare thing)
Shd Still struggles to get the right frequency from the NHS.
Indeed refused her b12 2 days early by gp recently before going away.
It's still so misunderstood and training severely lacking.
Clinical judgement out if the window.
So worried about covering covering their backs as 'policy ' not there to fit individual needs.
Prescribing 'off licence happens all if the time with 'drugs'
A fight with b12 !!
I think it's down to thr treatment policy that hopefully PAS are getting results with.
Results on paper. Numbers 'they' lije fies still not srm to get appropriate treatment????
Wonder if a genetic proof will make the difference??
Not sure
i have been disuaded from testing IF by reading that IF may or may not be reliable, thus I gave up even asking. Am I wrong for that, should I ask for an IF blood test?
I would say that if the IFab test has been requested by a GP who understands that a patient may test negative and still have PA (chances of that are around 50%) then it would not impede your search for answers. Martyn Hooper, founder of the Pernicious Anaemia Society, had three tests before getting a positive result.
A diagnosis can be PA (IFab negative) - although, in all honesty, I have never heard of anyone who has been given this. It would, I assume, rely on elimination of any other cause of B12 deficiency- since there is still not another test for PA. This diagnosis would be a difficult one to obtain and might still be disputed later on (change of GP/ practice audit etc).
I was once DNA tested for a cause of continued raised MMA, after being diagnosed with B12 deficiency and then later functional B12 deficiency. This was carried out by Adult Metabolic Inherited Diseases consultants. My family have many autoimmune conditions, including vitiligo, psoriasis, Grave's disease. My sisters' children are all autistic.
Nothing was found that might explain the raised MMA and continuing B12 deficiency symptoms. These lovely people apologised for not being able to help me. It did feel like the end of the road as far as investigations were concerned and I was disappointed for myself and for my family. I was certain that something useful would come up.
After three years, MMA had dropped to within range. I can only assume because of frequent B12 injections, as I was not taking or being given anything else, beyond Vitamin D and Raloxifene for osteoporosis of the spine. My folate and ferritin (both low and fluctuating) stabilised at optimal levels and I now do not supplement, and even my osteoporosis has reduced to osteopenia at the last Dexascan. I now am only seeing one consultant - for angular cheilitis (which has virtually gone now), salivary duct strictures and burning tongue.
The strictures may have compromised haptocorrin production, which would mean accessing B12 from extrinsic factor (food) would have been reduced. This was a theory - but one that an ENT consultant agreed was a possibility. It does not seem to be the only cause.
I still have symptoms - though not as severe or often and many have now gone. I still inject frequently to keep these manageable and still continue to make gradual improvements. For me, high levels of B12 are evidently important so I self inject about twice a week.
I really hope the medics use you as a case study.
You've been seen by many 'specislists '
Meanwhile had to self treat as denied an NHS prescription of the frequency of b12 injections you still need.
They need to recognise this.
You have been an inspiration to me and many others on this forum .
Demonstrating.
Time.
B12
Perseverance
Pays off eventually.
Many years of 'doing the rounds'
Getting tests
Trying to make sense of what happened to you.
May you continue to make progressabd be able to get on with your life kn tge best possible way
That is a lovely reply, Nackapan .
I am aware that to get the opportunity to see all of these specialists over many years, first and foremost, you have to be lucky enough to have a good doctor who won't give up searching on your behalf.
Hard to find a GP with decades of experience able to resist the urge to squash you into a box they already know something about.
We've all still got much to learn.
Secondly, this forum: without all the support, advice, encouragement and kindness from the people here, I would have not believed it possible to ever reverse back out of this.
And dare I say it - you seem to be getting somewhere, too, lately !
These are all insightful. Together we stand! It’s so nice to have this group in the universe to bounce ideas off both scientific and practical to help through this journey. I have come a long way, esp thanks to this group and all in it. Thank you all and to PAS! I quickly paid the dues and became a member and won’t hesitate to donate to this cause in the future. This has saved my job and given me hope which has saved my life.
So glad to hear it, B12life . I will print off the research link you have given, and give it the required level of concentration. After that, I might try getting a copy of Dr Chandy's book !
I have a B12 deficiency - also called pernicious anaemia.
My mother also had this condition and had regular injections until her GP told her that 'results were fine' you need no more injections.
Without any injections of B12, my mother developed stomach cancer.
I get a monthly injection for P.A.
GP said that I can have as many injections that I think I need. The following is an excerpt:
"If you have a vitamin B12 deficiency caused by pernicious anaemia, a condition where your immune system attacks healthy cells in your stomach, your risk of developing stomach cancer is increased.
Vitamin B12 or folate deficiency anaemia - Complications - NHS
NHS
nhs.uk › conditions › complications
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