Help with diagnosis

[renata22]

Since I was a child I struggled to keep my rbc in the normal range. I often had different neurological symptoms like migraines, occasional tingling, anxiety etc. I always had problwms with short memory and had been called forgetful. It all started about 3 years ago, I syarted to feel exremely fatigued, I would fall asleep while out for a lunch. One evening I suddenly developped tingling on the left side of the body. I have been admitted to the hospital to the ICU where I was suspected to have a stroke, fortunately CT scan came back normal. The hospital ran a battery of test of which all came back normal except my rbc that were 3.8, and lower than normal hematocrit. Fortunately they also tested vit b 12 which came back 235 (in the normal range) and folate that was 1400 (normal was all above 200). They sent me home with referral to neuro to get tested for ms. They also gave me vit b 12 pills (500 mcg), which I took, bit nothing changed. I have undergone so far 3 mri and all excluded ms, but confirmed leasions. At the same time I sustained b 12 supplementation along with d 3 for about 6 months and my level increased to 590, but the neurological sensation did not improve, quite contrary, I developped strange sensation in my mouth and throat, and blurry vision, that comes and goes.

With that level of b 12 I dropped this topic and got tested for lyme disease, which came back positive. I stayed 2 years on antibiotic treatment, which did not bring any improvement in terma of my neurological issues.

As suggested by my MD I dropped treatment and experienced terribly low immune system, At the same time I decided to go fully vegan, (however before I ate only poultry and fish - no pork of beef) I also started to loose my hair. I still was very tired, so I did cbc that reveal low rbc - 3.8 Then I started to aupplement bit b12 in 1000 mcg pills - methylocobalamin. After about 1,5 month my fatigue increased and hair loas turned in to real shedding-I can see bald spots) and I started developing palpitations (even though I am on propranolol). The results showed further dop in rbc 3.7 and increased mchc. The last factor has been increased several times in my life before. My MD also tested my iron, that came back normal with low ferritin levels 17.

The dosctor said I pop some iron pills but otherwise I am fine. He is very reluctant to do anything.

Watching movies about b 12 deficiency O also realised that my grandmother took the injectiona but not throughout her life. She died of alzheimers. My son is diabetic and my mom has Hashimoto. Is it possible to have PA if once in my life my levels went up on the pills? About 6 months ago I also tested homocysteine that was 6 - ok. Is it possible to have b 12 deficiency with nirmal homocysteine level?

I am sorry for a very long post, but no doctro so far has been able to help me (and there were dozens of them)

Thank you in advance

Renata

[Gambit62 Administrator]

PA is one potential cause of a B12 deficiency - leading to problems absorbing B12.

Most B12 is absorbed in the ileum but some is absorbed elsewhere in the gut - averaging around 1% of B12 absorption - so flooding the gut with lots of B12 can result in enough being absorbed. Add into this that an absorption problem in the ileum doesn't necessarily mean no absorption - it could just mean much lower absorption in the ileum than in a normal person.

B12 is stored in the liver in good quantities and released into the ileum in bile but if the ileum is no longer able to absorb B12 then this isn't going to work - like having a leaky tap.

B12 deficiency resulting from absorption problems tend to develop slowly as a result of this but symptoms tend to snowball as the absorption problem starts to take hold.

macrocytic anaemia - in which red blood cells are larger and rounder than normal - is a classic symptom of B12 deficiency but is also a symptom of folate deficiency. It is a symptom but not a defining characteristic. It isn't one of the first symptoms to develop for around 25-30% of people.

B12 deficiency isn't about the amounts of B12 in your blood - its about what is going on in the cells that actually use B12. Getting B12 into your blood is just one step on the way. It then has to get from your blood into cells and after that it needs to be used in cells for all the various processes it is involved with. Many processes use both B12 and folate so there is a huge overlap between symptoms of B12 deficiency and folate deficiency. There are also going to be genetic factors that will affect the way your body processes B12 and/or folate in various processes.

The symptoms of B12 deficiency also overlap with a number of other conditions which makes diagnosis very difficult.

In some people high levels of B12 in serum will result in a functional deficiency - the body reacts to the high levels in blood by trying to shut down the mechanism that allows B12 to be transferred from blood to cell, so supplementing with high levels of B12 when you don't have an absorption problem can be problematic.

Recycling homocysteine into a useful building block is one process that the body uses B12 for. I don't know enough biochemistry to give a proper response but personally the body is quite good at prioritising how it uses scarce resources so imagine that it might be possible that recycling homocysteine might be prioritised over other processes but that is hypothesising on my part.

MMA is another harmful product that the body can't recycle if it doesn't have enough B12 so is another marker for B12 deficiency.

Basically there isn't a good test to identify a B12 deficiency - just a range of markers that need interpreting. This includes symptoms but given the huge overlap with other conditions interpreting symptoms certainly isn't without problems. This includes a number of auto-immune conditions. PA is also an auto-immune condition and unfortunately it is very common to have more than one auto-immune condition going on at the same time which further adds to the complexity as it means there may be more than one thing going on.

People respond differently to different forms of B12 - methyl can work well for some but for others it does nothing.

There are actually two forms of B12 that are needed at the cell level - methyl and adenosyl and there are some documented incidents of people who are bit able to convert methyl to adenosyl.

I realise that this is a long way from answering your question and probably doesn't get you any closer to finding a solution to what is going on - its also far from comprehensive and is based on how I understand things and I do not have a medical background.

B12 probably remains a possibility but how its involved may well be quite complicated.

Have you been tested for PA specifically (although general test - IFA is prone to false negatives about 40-60% of time depending on assay method so a negative result is a long way from proving that you don't have PA)?

Have you been tested for other potential absorption problems - such as coeliacs/crohn's - also drug interactions and treatable conditions such as h pylori?

It does sound as if you may not have a problem actually absorbing B12 in your gut but it may be involved elsewhere.

[renata22 in reply to Gambit62]

Thank you for taking time to answer my question, it does give me more ideas I can hold on to.

Unfortunately I have never been tested for PA, that means I did not have MMA test, and I did homocysteine because my mom in law prompred me to do it. Until couple of days ago I had no idea it was involved into b12 at all.

I live in HK so it's impossible to get the doctor to do anything if your levels are within range. He actually thought my last cbc was normal despite elevated mchc and low rbc. In one month I am going to my home country for holiday, so I will discuss it with my doctor.

Is there any way I can check malabsorbtion on the cellural level? Are there any other medical tests I can do apart from serum levels, MMA, and homocysteine?

One more thing I have been tested for celiac, and once treated helicobacter with antibiotics, the tests no longer show any infection. I once had gastroscopy but it only showed small problems with lining but nothing major, and small reflux from too much acids.

Renata

[Gambit62 Administrator in reply to renata22]

there isn't a direct test of what is happening at the cell level - just the indirect measures supplied by MMA and homocysteine.

Unfortunately I'm not aware of any country (except possibly Japan) where it isn't very much a case of hit and miss as to how aware doctors are of B12 deficiency, how it works and how much context needs to be brought to bear on interpreting test results - and that last point relates to a lot of other conditions as well.

The acid reflux may actually be low stomach acidity - the symptoms of which are more or less the same as high stomach acidity - and it is associated with PA . Focus tends to be on its high stomach acidity and prescribing PPIs which can make the issues caused by low stomach acidity in terms of being able to break down and absorb nutrients from food worse - most countries don't have tests or much awareness even of the impact of low stomach acidity even though it is the main reason why B12 deficiency becomes more prevalent as you look at an older population.

Gastrin will be extremely elevated if you have PA so can be used as a marker but I'm not sure how widely that is known - it was something that was discussed at the PAS conference last year - videos available on the PAS website - though you need to be a member or make a contribution to see them.

pernicious-anaemia-society....

pernicious-anaemia-society....

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