My son's blood test results

[Mindseye]

Symptoms include severe torpor, inability to concentrate, very quiet and still. Could this be pernicious anaemia? His grandfather and great grandfather both had PA and I have had similar symptoms that have been treated with levothyroxine.

[Nackapan]

Your sons symptoms are not familiar to me.Has he looked at the PA list of symtoms?

Been referred to a neurologist to test to see if he might is having neurological 'absences'

IFAB test

MMA test.

Sibo test

On any medications

Eating and drinking okay

Alcohol

Blood sugar levels

Depression

A case if elimination

Have any test he is offered .

Keep going to identify what's going on.

Get him to keep a diary .

I can't think 🤔 of anything else.

Comparing 2 lots of blood tests good.

Can see a drop in b12 and folate but still good levels.

If functional b12 deficiency. More tests are needed .

See what a third blood test is doing .

The serum b12 result if I remember rightly has a known % of variant

Would an 'active b12 ' test help?

I'm sure others will have ideas.

Look at the many links sleepybunny posts

I hope a reason is found very soon so he can get treatment

[Mindseye in reply to Nackapan]

Thank you so much for taking the time to reply. I will follow up all suggestions, but note that his symptoms arn't farmiliar to you so may not be PA. It would be a blessing to know what the cause is but equally we need to rule out what it isn't , if that makes sense.

[Sleepybunny]

Hi,

I'm sorry to hear that your son is suffering.

I'm assuming he's an adult.

My understanding is that in UK, people who are symptomatic for B12 deficiency should be treated even if serum (total) b12 is within normal range.

Many forum members report severe fatigue.

I have come across research articles that suggest b12 deficiency can sometimes lead to catatonia.

Catatonia is where someone is awake but does not respond.

Are his other symptoms consistent with b12 deficiency?

Symptoms of B12 Deficiency (folate deficiency also mentioned)

pernicious-anaemia-society....

b12deficiency.info/signs-an...

cks.nice.org.uk/topics/anae...

b12-institute.nl/en/symptom... (B12 Institute Netherlands)

Link about "What to do next" if B12 deficiency suspected

b12deficiency.info/what-to-...

PAS (Pernicious Anaemia Society)

Based in Wales, UK.

pernicious-anaemia-society....

There is a helpline number that PAS members can ring.

PAS membership is separate from membership of this forum.

With a family history of PA, I would expect him to be tested for PA.

Have you been tested for PA?

Testing for PA

pernicious-anaemia-society....

Unhappy with Treatment (UK info)?

How to write letters to GPs about B12 deficiency

b12deficiency.info/b12-writ...

Blog post about being symptomatic for B12 deficiency with an in range serum B12 result.

b12deficiency.info/your-ser...

NICE CKS (Clinical Knowledge Summary) for B12 deficiency and Folate deficiency

cks.nice.org.uk/topics/anae...

I notice his ferritin, folate and serum b12 have dropped since last tested.

Has he ever been tested for coeliac disease?

Guidelines below suggest anyone with unexplained B12, folate or iron deficiency should be tested for coeliac.

NICE guidelines Coeliac disease

nice.org.uk/guidance/ng20

More info on diagnosis on Coeliac UK website

coeliac.org.uk/information-...

As you responded to thyroid treatment, has your son had thyroid tests?

GPs in UK often only test TSH which won't give a full picture of thyroid function.

There are other thyroid tests GPs and specialists can order.

thyroiduk.org/thyroid-funct...

I suggest he puts any thyroid results on Thyroid UK forum on HU.

Links to forum threads where I left detailed replies with lots of B12 deficiency info eg causes and symptoms, more UK B12 documents, B12 books, B12 films, B12 websites and B12 articles and a few hints on dealing with unhelpful GPs.

Some links may have details that could be upsetting.

Some of the info will be specific to UK.

healthunlocked.com/pasoc/po...

healthunlocked.com/pasoc/po...

healthunlocked.com/pasoc/po...

Link to thread about Patient Safety, has useful links for those in UK having difficult health experiences.

healthunlocked.com/pasoc/po...

I'm not medically trained just someone who suffered for years from unrecognised and untreated B12 deficiency.

[Mindseye in reply to Sleepybunny]

This is amazing Sleepybunny, thank you so much for all this info and links.

My son is 25, and otherwise healthy. I posted his results on Thyroid Uk and someone suggested it might be PA as there is a family history. He does exhibit a number of the symptoms listed on the b12 deficiency link but others like irritablility, aggression, fractures don't match him at all.

I will work my way through your links and then use the "how to write letters to your GP about B12" and see if we can make some headway.

[Sleepybunny in reply to Mindseye]

Might be worth pointing out the drop in levels from 472 to 331.

I would at the very least expect them to retest his serum b12 in a few months time to see if it has dropped again.

[Mazza2006]

Hello Mindseye. I have an underactive thyroid which has been treated with Levothyroxine since 1995. I felt that I was not getting the same results as other people on this treatment. I never fully felt "well" again. As I got older I became more exhausted with aching all over, loss of concentration etc. I continued to work but had no energy to do anything else. About 10 yrs ago I started to get the pins and needles in my feet and slightly numb hands. Eventually I was diagnosed with PA. I now get monthly B12 injections. I never had loading injections. I am feeling better to what I did and have about 5 days a month where I almost feel normal.

One of the many auto immune diseases that are associated with PA is either an overactive or underactive thyroid. There is certainly a crossover of symptoms between the two.

If you find you are not responding to the Levothyroxine and still have symptoms it may be worth getting your B12 checked.

I don't have as much understanding about all the information on B12 as many of the knowledgeable people on this site so I can't offer advice for your son. I do hope you are able to sort it out for him

Wishing you both well

[summersj]

Dear Mindseye,

I have PA and am a clinical biochemist, so I am used to interpreting blood test results like those you posted.

They show no evidence of PA or thyroid deficiency, and apart from a slight elevation of bilirubin last year, are completely normal.

Others have posted that normal B12 levels are often found in people with PA - the distinction should be made that this is only the case when they are receiving B12 therapy. At the time of diagnosis B12 will be low. Also, PA usually develops later in life, not in someone as young as your son.

I would say there is no evidence that your son has PA or a thyroid deficiency, and that he needs further investigation. Diagnosis is a process. When the most common blood tests are normal, the doctor needs to continue looking for other possibilities.

Also I would strongly advise you not to look for answers online. I know it is hard, and you desperately want to help your son, but until he receives a diagnosis you will tie yourself up in knots trying to find answers when you lack medical training - it’s a minefield! Try and be patient. Your son’s symptoms are non-specific and occur in many different scenarios, and it will take time and further investigation to tease out the answer. I wish you good luck.

[Sleepybunny]

Hi,

My understanding is that there are forum members here who were diagnosed with PA when their serum B12 levels were within normal range, before being treated with B12.

Searching for answers online saved my life as numerous GPs and specialists missed what was wrong with me despite many typical B12 deficiency symptoms.

Some members of PAS are children whose parents joined on their behalf. PAS has articles on juvenile PA.

NICE CKS B12 deficiency says

" Vitamin B12 level — interpret the results of the serum cobalamin test taking into account clinical symptoms, other laboratory findings .........."

cks.nice.org.uk/topics/anae...

Based on personal experience, I feel that doctors often focus too much on blood test results and not enough on the symptoms.

As far as I can see from the results your son has not been tested for PA yet.

The following tests can help to diagnose PA

Intrinsic Factor Antibody test (IFA or IFAb)

Gastric Parietal Cell Antibody test (GPCA or PCA)

Gastrin test

(PA is mentioned in the section on What test result means)

labtestsonline.org.uk/tests...

I've also read that a pepsinogen test can be helpful.

It is possible to get private Intrinsic Factor Antibody tests in UK and I think one chain of high street chemists in UK offer it online.

NHS GPs may be reluctant to accept the results of private blood tests but hopefully a private test that shows something significant would nudge them to order the same test on NHS.

This next link is aimed at health professionals and may have details that could be upsetting.

It mentions that bilirubin may be raised in B12 deficiency

patient.info/doctor/pernici...

Antibody Negative PA

It is possible to get a negative result in IFAb test but still have PA. This is called Antibody Negative PA.

Have a look at the diagnostic flowchart for PA and B12 deficiency below.

The right hand side of the flowchart explains when a person with normal range serum B12 can be diagnosed with PA. Antibody Negative PA is mentioned.

stichtingb12tekort.nl/engli...

This link from NICE CKS B12 deficiency says that only 50% of people with PA have intrinsic factor antibodies.

cks.nice.org.uk/topics/anae...

Two useful B12 books

"What You Need to Know About Pernicious Anaemia and B12 Deficiency" by Martyn Hooper

Martyn Hooper is the chair of PAS (Pernicious Anaemia Society).

Some of the UK information on treatment is out of date in book. See BNF and NICE CKS for up to date info.

"Could it Be B12?: An Epidemic of Misdiagnoses" by Sally Pacholok and JJ. Stuart (US authors)

Very comprehensive with lots of case studies.

I suggest when the new NICE guidelines for PA and B12 deficiency are published in November 2023 you both have a good look.

Link to draft document for new NICE guidelines for PA and B12 deficiency

nice.org.uk/guidance/indeve...

If you click on "project documents" then on "consultation comments and responses" it gives a good insight into current issues around diagnosis and treatment.

Time is of the essence in treating B12 deficiency to avoid developing neurological damage.

BSH Cobalamin and Folate guidelines summary says

"In the presence of discordance between test result and strong clinical features of deficiency, treatment should not be delayed to avoid neurological impairment"

Summary of BSH Cobalamin and Folate Guidelines

pernicious-anaemia-society....

I'm not a health professional.

I hope you will keep the forum updated.

[Mindseye]

thank you so much for all this info. I will go through it with a fine toothed combe. So helpful.

both myself and my son have blood tests booked in for next week, should we stop taking B12 or carry on and let the Dr know?