I am a 26 year old female. When I was 17 I was diagnosed with a genetic mutation called MTHFR which they found through a b-12 deficiency (I tested 70 with a range of 200-900). Doctor said as long as I consistently took vitamins throughout my life I would be fine. Now almost ten years later (still on supplements) I have chronic fatigue, migraines, hand tremors, occasional mouth sores, and relatively consistent unexplained vomiting and diarrhea. I had both an endoscopy and colonoscopy done and everything came out clean. I have not yet sought out a professional medical opinion on pernicious anemia because my symptoms don’t quite match what I’ve read, and also I am currently abroad and will have to wait until I return to the states to see my doctor. I am wondering if anyone else has experienced the tremor and gastrointestinal issues? And if people familiar with PA think that I am headed in the right direction or if I should look elsewhere for an explanation?
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Are you taking oral B12 or are you injecting? Sometimes oral isn't sufficiently absorbed into the cells, especially if someone has GI issues. I have PA with similar symptoms as you plus others. My Serum B12 was right in the middle of "normal" (600 - 650) but that wasn't an indicator of my cellular levels. I'm in the US, too, and my new practitioner was wise enough to run a full PA panel that included: Serum B12, Folate, Methylmalonic Acid, Homocysteine, Instrinsic Factor Blocking Antibody and Parietal Cell Antibody w/ Refl Titer. She diagnosed me with PA due to positive Parietal Cell Antibodies and elevated Methylmalonic Acid and Homocysteine levels. She immediately started me on injections and I have started to see improvements which is why I recommend that you get tested properly to avoid further decline if you are B12d in any way. That being said, if it turns out not to be B12d/PA, please continue seeking solid answers to your health problems as you are young and have a lot of living to do! There are others here better educated than I am, hoping that they can offer you more information. Best to you and hope you find answers and remedies!
Hi there! Thanks so much for responding. I’ve taken oral b12 for about 10 years now, I did start reading that I may not be absorbing it so I’m definitely leaning towards trying injections and seeing how I feel. That’s a relief to hear that the GI could maybe be related to b12 because I’m definitely desperate to resolve those issues. Have the injections helped you with that? I didn’t know about the full PA panel! That sounds like a great next step. Thanks again
You are very welcome! Right now, I have bacterial overgrowth to contend with so the B12 hasn't been able to fully help me with the GI issues. Please be aware that if you start self injecting before testing, then the MMA (Methylmalonic Acid) and Homocysteine levels would be knocked down so that you would not get a proper indication of whether you actually need the injections or if your oral supplements are sufficient. The B12 is what keeps the MMA and Homocysteine in check if your cellular levels are adequate. Sleepybunny has provided a lot of great references for you.
Have you had tests for PA, Coeliac disease, H Pylori infection?
Have you been exposed to nitrous oxide?
Any chance of internal parasites eg fish tapeworm? Do you ever eat raw fish? There are other parasites that have been linked to B12 deficiency such as Giardia Lamblia.
"I had both an endoscopy and colonoscopy done"
Has the whole digestive tract been looked at?
I think that some types of endoscopy may not cover all the small intestine.
Any family history of auto immune conditions?
PA is an auto immune condition.
PAS (Pernicious Anaemia Society)
Based in Wales, UK. Has members in other countries.
"What You Need to Know About Pernicious Anaemia and B12 Deficiency" by Martyn Hooper
Martyn Hooper is the chair of PAS (Pernicious Anaemia Society).
"Living with Pernicious Anaemia and Vitamin B12 Deficiency" by Martyn Hooper
Has several case studies.
"Could it Be B12?: An Epidemic of Misdiagnoses" by Sally Pacholok and JJ. Stuart (USA 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".
Wow that was all super helpful thank you. So never tested for PA. But Coeliac disease yes, h pylori yes. No exposure to nitrous oxide. I did several blood and stool panels for parasites. And my whole digestive tract was looked at. Every test or doctor I went to said I’m healthy and couldn’t explain my symptoms. My latest blood panel a month ago (b-12 was not tested) said everything was in range except for alkaline phosphatase that was low (20 out of a 33-66 range). The doctor said it was not a concern. There is no history of auto immune in my family that I am aware of.
I spent years slowly deteriorating to the point of developing dementia type symptoms and starting to have mild spinal problems because I accepted being told that all my bloods were normal.
Best advice I ever got was to always get copies of all my blood test results. When I did get copies, I found that some of my results were either abnormal or borderline.
One of the signs doctors look for as an indicator of B12 deficiency is enlarged red blood cells (macrocytosis). Folate deficiency can also lead to macrocytosis. However many people with PA and other causes of B12 deficiency do not have macrocytosis.
Have you got results for a Full Blood Count FBC (known as Complete Blood Count in US)?
There can be useful clues as to whether B12, folate or iron deficiency is present on FBC.
Low B12 (and low folate) can lead to enlarged red blood cells (macrocytosis). Low iron can lead to small red blood cells (microcytosis). A person who has both low B12 (or low folate) and also low iron may appear to have red blood cells of normal size on FBC because effects of low iron mask the effects of low B12 (or low folate).
A blood smear (also known as blood film) may show both macrocytic and microcytic cells in someone who has both low iron and also low B12 (or low folate).
The picture can get very complicated.
If someone is on folate treatment, the effects of folate on red blood cells may mask the effects of B12 deficiency. In someone who is B12 deficient, folate treatment may make red blood cells appear normal size but the neurological effects of B12 deficiency may continue.
Vital that any co-existing B12 deficiency is treated at the same time as someone is receiving folate treatment.
Links below may be using UK units and ranges for blood tests.
I can vouch for the fact that it is possible to have typical B12 deficiency symptoms with an in range B12 result. Apart from one B12 result, all mine were well within normal range. My GPs at the time just didn't look at all the symptoms and didn't think about what could cause all of them. I had symptoms affecting most body systems.
Have you seen any specialists besides gastro specialist?
Have you seen a neurologist if you have neuro symptoms? A haematologist?
Sadly, ignorance about B12 deficiency exists among specialists as well as GPs so be well prepared for any specialist appointments. Have some B12 info in your bag...
"But Coeliac disease yes"
Which tests for Coeliac did you have?
In the UK two first line tests are recommended for testing Coeliac disease. UK doctors sometimes forget to test Total IgA. Did you have both these tests?
1) tTG IgA
2) Total IgA
tTG IgA checks for a particular antibody to gluten.
Total IgA checks which patients have IgA deficiency.
People with IgA deficiency are not able to make the antibodies to gluten that tTG IgA test checks for, even if they have Coeliac disease.
People with IgA deficiency need alternative tests for Coeliac disease. See link below.
Another reason for a negative result in test for Coeliac is a person was not eating enough gluten before blood test therefore not enough antibodies to gluten were circulating in the blood to give a positive result.
In UK, I believe doctors are told to encourage patients to eat plenty of gluten in more than one meal per day for several weeks before blood is tested. Were you told this before having Coeliac tests?
for the record MTHFR is a gene that controls one particular step in the MTHFR process - there are a huge number of variants and they affect the processing of folate more than they affect B12.
PA is an auto-immune disorder of the gut that particularly affects the mechanism that is responsible for B12 absorption (in the ileum). It can also affect the absorption of other minerals and vitamins such as iron and folate. The symptoms of iron deficinecy and folate deficiency overlap substantially with B12 deficiency - as do a number of other conditions.
The gastrointestinal issues make it sound as if B12 deficiency is actually quite likely (though it is very difficult to formally diagnose as the current test for IFA antibodies is extremely insensitive).
You don't mention the strength of the tablets you have been taking - if they are 50mcg then they will be useless if you have a B12 absorption problem so you will have become deficient again. Tablets of a much greater strength - 1000mcg+ can be effective in maintaining B12 levels in patients with absorption problems using a process called passive absorption - small amounts absorbed outside the ileum. However the efficiency of this process varies considerably in individuals meaning that use of high dose oral is a long way from working for everyone - but as yet the reason for the variation and which people can't absorb B12 in the gut is a long way from being understood so the only way to know if passive absorption works is to try it and see.
If you are deficient tablets are going to be quite a slow way of raising your B12 levels and it does sound as if you are B12 deficient and you are experiencing effects of the deficiency on your nervous system. It's important that this is dealt with promptly so injections would be the way to go for raising your B12 levels quickly.
It would also be worth getting thyroid function tested when you get back - another condition that has a huge overlap in symptoms - but would suggest a full thyroid panel rather than just TSH, including antibodies - as there is a huge crossover between PA and hashimotos.
Firstly, a MTHFR mutation will do absolutely nothing to affect B12 levels. Almost everybody on the planet has at least one mutation on that gene, but only one mutation has been found to potentially cause problems - and that only in pregnant women (and it can be avoided by the use of folic acid supplements). blog.23andme.com/health-tra...
If you do have a B12 deficiency then your symptoms probably won't be an exact match to what you read. The symptoms can be many and varied and nobody has all of them. Even some of the classic signs (like macrocytic - large cell - anaemia) aren't present in about a quarter of those with a deficiency.
Your B12 was extremely low 9 years ago. The supplements may have delayed the worsening of symptoms but they aren't going to stop them.
Depending on which part of the world you are in, I would either see a doctor there or see if you can get a B12 injection from a pharmacy. A lot of the world aren't totally paranoid about letting the population inject themselves.
What county are you in? You may be able to get B12 injections over the counter at a pharmacy. You need a prescription from a Dr to get B12 from a pharmacy in the USA
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GP will only agree to 3 monthly injections unless I have a blood test showing low b12 levels.
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