I am very glad to have found this forum as I have been researching B12D and PA a lot recently. I became familiar with the society’s website and found it so helpful. I am 29F in the US and I suspect I have Pernicious Anemia. This is what I know so far (sorry in advance if this post rambles on).
In 2019, I had a lab come back for B12 that was around 280 but this information was not shared with me. At the time I was experiencing gastrointestinal distress and other weird symptoms. I was diagnosed with both gastritis and mild terminal ileitis, the latter of which has subsided. I also had malabsorption and SIBO which has been treated and no longer applies. After things started opening back up after lockdown I began physical therapy for hypermobility and joint instability (I have EDS) where I was offered b12 injections and took them for no particular reason (as I mentioned, no one told me I was low in b12). In the summer of 2022 my B12 came back at around 350 which my provider noted and suggested supplements but did not inform me about the significance of B12 or its symptoms. Several months later she began insisting I start 1000mcg injections as she thought a lot of my current symptoms were from B12 deficiency. She ran no other labs. After maybe 2-3 months of biweekly injections, I tested at around 460 (August 2023) which raised both our eyebrows. How could it be so low when I had been taking so much of it? We decided I could start doing weekly injections since I could feel them wear off very quickly.
Improving a little bit, I became unsettled with the way this provider did not investigate why I am low B12. I eat lots of meat and eggs, have no signs of gastrointestinal malabsorption, and do not take medications which interfere with B12. I stopped the injections as an experiment, in hopes something out of the ordinary would pop up in the labs and point me in a particular direction. Well, after a few months I couldn’t hold out and after having some serious immune system issues, took a couple injections a couple weeks apart. But then I saw a new doctor and she was adamant about investigating this issue further. She tested B12, homocysteine, and MMA knowing I had recent injections. The B12 came back at 605 (again, rather low for two recent 1000mcg injections, no? The last injection was 11 days prior to test) and homocysteine came back at 10.2 with the upper range ending at 14 I believe. Waiting on MMA.
At this stage, I am rather convinced Pernicious Anemia is my issue. I have seen a cardiologist and a gastroenterologist who can find no causes behind my symptoms. The only other possible explanation would be something neurological. I suppose my question to you all is what happens if the MMA comes back normal and the IFA (which I plan to demand) comes back normal? And I am still low on B12 or finding I need more rigorous treatment? Is there such a thing as clinical PA diagnosis? While this is probably rare is it possible to be born with not enough intrinsic factor?
As far as other bloodwork goes: My MCV does not dip below 91 and has gone as high as 98.6 (100 or greater indicates anemia). Ferritin is always normal. Folate has not been checked since 2019 and was healthy. I am D deficient but have success with oral supplements, last test in 2023 was 103 with 100 as upper range limit. Thyroid panel was all in range. My IgA is 70 (out of range for some labs, in range for others/considered by some as evidence of immunodeficiency).
Symptoms:
Extreme disabling fatigue, pins and needles which come and go sometimes feels like the tips of my big toes are sharp and burning, strange sensations which travel through my limbs like liquid electricity, constant muscle twitches that can last for weeks and cause distress, tinnitus, problems with temperature regulation, immune system dysfunction, tachycardia (110 average bpm treated with metoprolol and corlanor), irritability, flu like feeling, sebopsoriasis, pale yellowish skin, muscle weakness and fatigue, memory problems and confusion, wave like sensations that suddenly hit my brain like a brick and can jolt my head forward, dizziness, issues walking sometimes like I have sea legs, dry skin and nails with disappeared lunulae, eye pain like they are stiff and I cant move them around, migraines, headaches, and probably a lot more.
Thank you in advance for your attention!
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Marlowekat
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Morning.Some of your symptoms are very familiar to Ehlers Danlos .
Is it HEDs you have ?
One of my daughters has this as well as POTS.
She also got very deficient in B12 and folate.
It was never tested until hospitalised.
Definitely the underlying cause to trigger these debilitating conditions.
SIBO can cause a b12 deficiency
Gastro issues are common in EDS and b12 def and PA.
Despite megobolastic anaemia. Very low ferritin and b12,vit D and folate and severe symptoms leading to being a wheelchair user and losing her teaching post .
Her IFAB test came back negative .
This test only picks up 50% of those with PA .
There is a think called IFAneg PA .
She remains on regular b12 Injections to manage some of her symptoms.
Despite endoscopy investigation she never got a solid reason also IFAb wasn't repeated .
Can take several tests to be positive if it is PA.
Her B12 was also tested on injections and was lower than expected 300s . Like you.
Her starting point 86pg/L( 200-900,)
She will have b12 injections for life as helps manage her symptoms.
Assumed PA or absorbtion disorder .
The tests are not unfortunately conclusive for the majority of us .
Alot more research is needed .
I like explanations at least or reasons but also can only assume .
I'm reliant on b12 injections as is my mum .
A theme there !
Not diet related .
My sister is a vegetarian but the same diet kept her well for 40 yrsrs .
She now needs high dose oral b12 to add to her diet that includes diary and eggs.
The menopause our trigger .
So if b12 helps you, keep getting regular b12 injections.
Go by how you feel.
Testing b12 once on b12 injections maintenence are not needed .
Think about iron .ferritin vitamin D folate .
As high doses of one think knock others put of balance.
Also an absorbtion problem isn't confined to b12 .
Hope that helps .
Blood work does not show everything .The autonomic system
Digestive "
Central nervous "
Brain function
Can all be affected
The list goes on.
You will find plenty of information and support on here.
Hell, thanks for the response. Some symptoms can be attributed to h-EDS which is my subtype but not many. While EDS can affect nerves it usually presents in issues with pain receptors and feeling oneself in space, not cognitive or neurological issues as such. Cardiologists have determines I do not meet the criteria for POTS but rather Inappropriate Sinus Tachycardia which just means inexplicably high heart rate. They did not consider B12 in their assessment though. However, it is common for those with EDS + POTS to have the MTHFR gene which causes absorption problems with folate and b12. I do not believe this is my issue as I was already b12 deficient while my folate was normal. Ferritin and D have actually risen with b12 injections. SIBO can cause b12 deficiency but as its been treated successfully and there are no signs of malabsorption the deficiency should have resolved.
Great to hear your daughter, your mother, and yourself are all continuing b12 treatment! I think that is very important despite the cause as well and something it seems is hard to come by. I hope your daughter’s condition sees improvement over time. I am a graduate student soon to be college instructor and I worry about not being able to teach as well. I have a hard time with the uncertainty of it and worry about doctors not supporting treatment if there is no formal diagnosis.
Hi, just a couple of things that may be useful (or not) from my own experience. Serum folate can be high but you not be using it terribly well. Mine was near top of range from normal levels of dietary sources and a small multivitamin amount of folic acid. I'd been on oral B12 for years with some improvement but still made a significant improvement when I added methylfolate and my serum folate went down, even though I was taking more, of this other form. So it may possibly still be relevant to you. Also intrinsic factor isn't the only place where things may be going wrong with your B12 metabolism, and MMA and IF may appear normal but you still have a problem. B12 is complex and poorly understood. There are a number of potential sites for genetic issues and possible polymorphisms too. Adult Inherited Metabolic Diseases team may be useful, or you could ask for treatment for neuro symptoms - as in every other day injections until you stop improving, as you don't appear to have had loading doses or regular injections. EBV can be linked to all sorts, including Small Fibre Neuropathy, which you may not have been tested for (although it can have a number of causes) and Sjogren's (which can be one of the causes). Best wishes
These are both auto-immune diseases that can lead to B12 deficiency.
A person with coeliac disease can get a negative result in tTG IgA test for coeliac if
1) they have IgA deficiency
Worth also getting Total IgA test which checks for IgA deficiency.
There are other blood tests that can diagnose coeliac disease in people with IgA deficiency.
2) they were not eating enough gluten before blood taken.
Guidance in UK suggests people with suspected coeliac should eat plenty of gluten in more than one meal per day for several weeks before being tested.
For H Pylori infection?
A bacterial infection that has been linked to low B12 in some studies.
Any chance of an internal parasite eg fish tapeworm?
Have you lived or stayed in a place where internal parasites are common?
Have you eaten raw or uncooked fish?
One sign of a potential internal parasite infection is a rise in eosinophil levels, a type of white blood cell. Eosinophil result will be found with Full Blood Count results (Complete Blood Count) in US.
Have your doctors reviewed any drugs/medication you are on?
There are some drugs that have been associated with low B12 levels in some studies.
Guidelines
Have a look if you have the time and energy to see if you can find any national/state or regional guidelines on treating B12 deficiency.
I found a few documents when I searched online for "US guidelines B12 deficiency"
Two useful B12 books
These were published a few years ago so some bits may need updating.
"What You Need to Know About Pernicious Anaemia and Vitamin B12 Deficiency" by Martyn Hooper
Martyn Hooper is the former chair of PAS (Pernicious Anaemia Society).
"Could it Be B12?: An Epidemic of Misdiagnoses" by Sally Pacholok and JJ. Stuart (US authors)
Very comprehensive with lots of case studies. There is also a paediatric version of this book "Could It Be B12? Paediatric Edition: What Every Parent Needs to Know".
Sally Pacholok has written online articles about B12 deficiency.
Negative for celiac, h. Pylori, inflammation, and parasites. A GI has recently cleared me for everything possible besides gastritis. I am on no medications that would interfere with b12 absorption as I dont take medications for the gastritis symptoms. Negative for lyme. Tests show I had EBV in the past but that is all that has turned up from rheumatology appointments. And yes it seems its quite common with us EDSers.
Might be worth checking what tests you had for coeliac disease.
"My IgA is 70 (out of range for some labs, in range for others/considered by some as evidence of immunodeficiency)"
A person with IgA deficiency will get a negative result on common blood test for coeliac ( (the tTG IgA test )even if they have coeliac disease.
A person with IgA deficiency would usually have one of the following tests for coeliac.
Immunoglobulin G (IgG) EMA
IgG deamidated gliadin peptide (DGP)
IgG tTG
Were you eating lots of gluten in your diet for several weeks before you had the coeliac test? This is to ensure that there are lots of antibodies to gluten circulating in the blood.
In a person who hasn't been eating much gluten it's possible that the tTG IgA test could come back negative or normal range even if a person has coeliac disease.
This is a UK link about diagnosis of coeliac disease so not sure if you can access it.
Have you had an Intrinsic Factor Antibody test for PA (Pernicious Anaemia)?
A negative result in IFA test does not rule out PA. About half of people with PA get a negative or normal range result on IFA test.
Doctors might also give you a GPCA test (gastric parietal cell antibody test).
There are other tests that can help diagnose PA eg gastrin test. See thread about tests for PA and B12 deficiency in my other reply for other tests that might be useful.
Where the gastritis is in the gut can give a clue to the cause.
If you have time search for info on AMAG (Autoimmune Metaplastic Atrophic Gastritis). A type of gastritis associated with PA.
Hello, thanks again. I have had all those tests for celiac and they were all negative and nothing was seen on my endoscopy or colonoscopy to indicate celiac. I was eating gluten at the time. And currently there is no reason to believe it is celiac as there are no signs of malabsorption.
I have had no testing for Pernicious Anemia specifically - my concern is that this testing will either be denied to me or come back normal as it seems these tests arent very reliable or specific and I had been treated with b12 injections already.
I think it's worth having the tests for PA. They may come back positive, confirming a PA diagnosis.
Some laboratories say to leave at least 48 hours after a B12 injection before testing IFA. Some say to leave up to two weeks after B12 injection before testing IFA.
If doctors suggest PA is ruled out after a negative or normal range result in IFA test then you could pass them information on Antibody Negative PA.
Not sure if you can access this Dutch B12 website. It's a link to a diagnostic flowchart from a UK health document that discusses Antibody Negative PA.
Thank you very much! I will push for the test. I am not taking anymore b12 until I do so and will be sure to pass that info on to my doctor. Very helpful, thanks.
Hi there I think I may have PA or Autoimmune gastritis although I am negative for celiac and intrinsic factor! My GP referred me to a Gastroenterologist and I believe the waiting time in my area is 15 months! Good luck 🤞
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