Help understanding diagnostic tests please?

[Numbsew]

My Gp is wanting me to get a clear diagnosis before prescribing further b12 despite clear improvement from injections. He referred me to a neurologist who has asked for inflammatory markers and an autoimmune profile, as well as mri scan. What is the blood tests looking for please? Also, my neurological symptoms are dramatically improved so will that show on an mri?

[TACCT]

Inflammatory markers would tell them whether you have some infection going on since these are usually elevated in case of infections. There are also other conditions which can increase inflammation like being deficient on vit d and even b12 deficiency increases homocysteine (an acid) levels in body which is also associated with inflammation.

As far as mri scan, it will help them identify structural problems but as you have mentioned recent b12 therapy has improved your condition. So I guess it depends on from how long you were having these problems. MRI might come clear if its been few weeks/months since you developed these symptoms.

In any case if your symptoms are improving then I would suggest to continue b12 treatment.

[Foggyme Administrator]

Numbsew. Hmmm to,your GP. Often it's just not possible to get a clear diagnosis of B12 deficiency...at least in the sense he's looking for! If your symptoms have improved on the B12 injections, then guidelines state this is a successful therapeutic trial...and injections should be continued (as per the BSCH treatment guidelines in the attached link - look in the diagnostic flow chart - about 8ish pages in).

onlinelibrary.wiley.com/doi... (British Committee for Stwndards in Haematology (BCSH) Guidelines for the Diagnosis and Treatment of Cobalamin and and Folate Disorders). Including B12 Deficiency / PA Diagnostic Flowchart.

In one way it's good that your GP has sent you to a neurologist (I assume this is because you had/have neurological symptoms).

As you are already on injections, it's difficult to see how the neurologist can say, retrospectively, that you had (have) a B12 deficiency (serum B12 should now be high and MMA test likely normal (though doesn't sound as ifmyour neuro has done this).

However, there are many other causes for neurological symptoms and your neurologist will be wanting to rule these out.

Tests your neuro is doing:

MRI - usual to do head and spine. An MRI may show if there is neurological damage from B12 deficiency (I.e. subacute degeneration of the spinal cord) but it will not demonstrate the presence of neurological symptoms (neurological symptoms appear before neurological damage and can be present with no evidence of neurotically damage on MRI). So, it can say if you do or do not have central neurological damage due to B12 deficiency but it can't shown if you are or have been B12 deficient). The MRI can also be used to rule out any other underlying neurological conditions - so that's good.

Autoimmune profile is also good - autoimmune disease can also cause many symptoms that are almost exactly the same as those of B12 deficiency, so good to rule out underlying autoimmune conditions as a potential cause for your symptoms. If any of your autoantibodies are raised (for instance ANA) you'd be referred to a rheumatologist for further more precise investigations.

Inflammatory markers (ESR and CRP) are usually raised if there is any inflammation in the body due to underlying disease. Again, if these are raised, further investigations would be required to identify specific causes. Again, referral to a rheumatologist would be usual (unless you have an proven infection and then they'd re-test once the infection had cleared).

So...sounds like your neurologist is doing the right thing and ruling out any other potential causes for your neurogical symptoms. And whilst they may not be able to say categorically that you had (or have) a B12 deficiency, if they’re knowledgable about B12 deficiency (some are, some are not), then they should recognise that a successful therapeutic trail confirms the diagnosis B12 deficiency...and they should write to your GP and tell them to continue treatment.

Worth noting that if you still have neuro symptoms, or ifmyour symptoms return before your next jab and then resolve when you have that jab, then this means that you need more frequent injections.

After loading doses, those with neuro symptoms should continue with B12 injections every other day until no further improvement. This is the recommended treatment as per the BNF (doctors prescribing guidelines. Third paragraph down so they'd have to read further down that they normally do). GP may not know this - would hope neurologist does but some don’t.

So...if you do have continued symptoms despite current treatment regime, ask to be put on every other day injections. Quite disgraceful that your GP has stopped injections, especially if your symptoms are returning!

Here's a link to the BNF guidelines:

bnf.nice.org.uk/drug/hydrox...

(BNF B12 Deficiency: Hydroxocobalamin Treatment Regimes)

In particular, if,you have neurological symptoms, worth printing these and takiing to GP to ask him to re-instate injections (to prevent potentially irreversible neurological damage - though not suggesting that you have this - may just sharpen his mind a little and 'encourage' him to re-start your injections 😉).

Another couple of links that may help if you choose / need to go down that route:

bmj.com/content/349/bmj.g5226 (Summary but GPs can Access Document)

archive.is/hbPHE (UKNEQAS B12 Treatment Alert, Neurological Symptoms and Risk of Subacute Combined Degeneration of the Spinal Cord – Immediate Treatment with B12 Injections - even if serum B12 within 'normal' limits)

stichtingb12tekort.nl/weten... (Problems with Serum B12 Test)

stichtingb12tekort.nl/weten... (Testing B12 During Treatment)

stichtingb12tekort.nl/weten... (Misconceptions About B12 Deficiency – Good to Know Before Seeing GP)

stichtingb12tekort.nl/weten... (B12 Deficiency: Neurological Symptoms Can Present Even When B12 is ‘In-Range’ and Without Macrocytosis (large red blood cells) or confirmed PA Diagnosis)

stichtingb12tekort.nl/weten.... (B12 Deficiency and Intrinsic Factor – Can Be Negative and Still Have PA)

stichtingb12tekort.nl/weten... (B12 Treatment Safety / L

Good luck...let us know how you get on 👍

[Numbsew in reply to Foggyme]

Thank you so much for all this info. I will let you know what happens.

[sbadd]

I have just been referred to ruemotoligist because my ana was higher than normal, i received loading doses in jan for diet related b12 deficiency but 3 months on continue having heavy legs which started after injections, i also have underactive thyroid and my antibodies were significantly increased on thyroid gland around a year ago, could my thyroid cause the ana to be high?

[Foggyme Administrator in reply to sbadd]

In short - yes - it is possible to have a raised ANA due to Hashimoto’s, though it's also possible to have another underlying utoummune conditon too (autoimmune disease tend to travel in clusters - if you have one, likely (but not definite) that another could occur too. About 15% of the healthy population also have raise ANA without having any underlying autoimmune condition.

A reply above 1:160 is considered positive and the higher the titre, the more likelihood of another u delaying autoimmune conditions (mine was 1:1600 when diagnosed with a systemic autoimmune condition).

Here's some information about the ANA test (including possible causes):

urmc.rochester.edu/encyclop...

And here's another about hypothyroidism and raised antibodies:

ncbi.nlm.nih.gov/pubmed/176...

So, referral to a rheumatologist is the right way to go. They will do more complex autoantibody testing to determine if you have anything else going on in the autoimmune department.

For future reference, it's always better to put up a new post if you have any questions. If you ask a question in someone else’s post, it's not seen by the whole forum (the only person to see your question will be the person who wrote the original post and anyone who happens to read through the responses (I only spotted your questions by 'accident'). Questions asked in this way often don't receive a response (they get lost in someone else’s 'conversation') 😉.

Good luck with the rheumatologist 👍

[sbadd in reply to Foggyme]

Thankyou yes my reading was 320

Doct has already tested for lupus and heap of others that were negative but still refering me

[Foggyme Administrator in reply to sbadd]

Yes...that's good...GP's are not able to do some of the more complex autoantibody tests - these can only done by a rheumatologist.

Good luck. Hope all goes well.

[sbadd in reply to Foggyme]

Thanks

[Sleepybunny]

Hi,

In addition to documents Foggyme suggests printing out, to support a request to restart B12 jabs, there is also the following which might be of interest.....

Neurological Consequences of B12 Deficiency

PAS news item

pernicious-anaemia-society....

PAS article about SACD, sub acute combined degeneration of the spinal cord,access to PAS members only.

pernicious-anaemia-society.... See Page 2 of articles.

Blog post from Martyn Hooper's blog, mentions SACD

martynhooper.com/2010/09/21...

Unhappy with Treatment (UK info)?

My personal view is that it is sometimes better to put queries about treatment into letters to GP. In UK, my understanding is that letters to GPs are supposed to be filed with medical notes. Letters could contain symptoms, test results, relevant family and personal medical history and extracts from relevant guidelines.

Letters to GPs about B12 deficiency

b12deficiency.info/b12-writ...

Point1 is about under treatment of B12 deficiency with neuro symptoms.

Point 5 is about being symptomatic for B12 deficiency with an in range B12 result.

CAB NHS Complaints

citizensadvice.org.uk/healt...

HDA patient care trust

UK charity that offers free second opinions on medical diagnoses and medical treatment. Think they use a network of specialist doctors across UK.

hdapatientcaretrust.com/

Have you been in touch with PAS?

PAS (Pernicious Anaemia Society)

Based in Wales, UK.

pernicious-anaemia-society....

PAS tel no [phone] answerphone

PAS support groups in UK

pernicious-anaemia-society....

There are 13 PAS support groups in UK and they can be a source of info on helpful GPs etc.

"Gp is wanting me to get a clear diagnosis"

PAS blog post about how PAS can support those seeking a PA diagnosis.

martynhooper.com/2017/06/24...

If you look at flowchart Foggyme referred to, it clearly states on right hand side that doctors should consider continuing B12 injections even if diagnostic tests such as MMA are negative if patient has shown good response to treatment.

stichtingb12tekort.nl/weten...

Blog post about help if B12 injections stopped(UK info).

b12deficiency.info/blog/201...

Help for GPs

PAS website has section for health professionals. They can join PAS for free.

pernicious-anaemia-society....

I believe PAS members can arrange for their GPs to speak to PAS in some cases.

Symptoms of B12 Deficiency

pernicious-anaemia-society....

b12deficiency.info/signs-an...

Risk Factors for PA and B12 Deficiency

pernicious-anaemia-society....

b12deficiency.info/what-are...

b12deficiency.info/who-is-a...

PA can run in families. On another thread you mention a relative with PA. Is your GP aware that you have a blood relative with PA? Might be worth mentioning this in any letters to GP/specialists.

I read on another thread that you have not had IFA Intrinsic Factor Antibody test, a diagnostic test for PA. It is possible to get this test done privately in UK. Results of IFA test may give a false positive if blood taken close to having b12 jabs or supplements.

labtestsonline.org/tests/in...

It's also possible to have PA even if IFA result is negative (Antibody Negative PA).

Have you ever been tested for Coeliac disease?

Coeliac disease can lead to B12 deficiency due to gut damage causing absorption problems. Guidelines below suggest that anyone with unexplained B12, folate or iron deficiency should be tested for Coeliac. People who have first degree relatives with Coeliac should be monitored for symptoms of Coeliac.

NICE guidelines Coeliac Disease (2015 version UK document)

nice.org.uk/guidance/ng20/c...

Coeliac Blood Tests

coeliac.org.uk/coeliac-dise...

Ever been tested for H Pylori infection?

patient.info/digestive-heal...

Any chance of internal parasites eg fish tapeworm?

Do you eat raw fish? There are other parasites that can lead to B12 deficiency eg Giardia Lamblia.

Exposure to nitrous oxide?

gov.uk/drug-safety-update/n...

Other B12 info

UK B12 Blogs

Martyn Hooper's blog about PA

martynhooper.com/

B12 Deficiency Info blog

b12deficiency.info/blog/

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

b12deficiency.info/what-to-...

Blood tests

b12deficiency.info/b12-test...

Macrocytosis

patient.info/doctor/macrocy...

Full Blood Count and Blood Film

labtestsonline.org.uk/tests...

patient.info/doctor/periphe...

Folate Deficiency

patient.info/doctor/folate-...

Iron Studies

labtestsonline.org.uk/tests...

B12 Awareness (US website)

b12awareness.org/

Stichting B12 tekort (Dutch B12 website with English articles)

stichtingb12tekort.nl/weten...

I am not medically trained.

[Sleepybunny]

Hi again,

I think I mentioned these on your other thread but thought I'd post them again.

UK B12 documents

BSH Cobalamin and Folate Guidelines

b-s-h.org.uk/guidelines/gui...

BMJ B12 article

bmj.com/content/349/bmj.g5226

BNF

bnf.nice.org.uk/drug/hydrox...

BNF guidance changed recently.

pernicious-anaemia-society....

NICE CKS

cks.nice.org.uk/anaemia-b12...

B12 books I found useful

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

Martyn Hooper is the chair of PAS (Pernicious Anaemia Society). Book does not mention recent BNF change.

"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".