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methylmalonic acid test in diagnosis - help needed please

brionybritbird profile image
7 Replies

Hi Everyone, This is my first post so your guidance welomed.

Saw GP with increasingly worse neurological symptoms of hip/leg and hand numbness (blood test 150 Dec 17 not fed back to me; 150 Aug 18) and started 6 loading doses Aug followed by a further 6 (all twice a week) with dramatic improvement though horrendous headaches and awful 'nerve spots' just below hips further weekly doses then two weekly doses offered but 'crashed' after 7 days during a 10 day gap (hols). Dr said she would 'speak to neurologist' and have had a call from surgery to go in for a Methylmalonic Acid test on guidance from neurologist to GP.

I'm hypothyroid, mother and brother with pernicious anemia, daughter is coeliac, brother has dementia symptoms.

My concern is that a MMA test will prove negative for b12/PA if I have had these B12 injections. I feel 'normal' post injection but symptoms come back in a week. It feels like this is being done to curtail injections as GP questions my need for them which feels oh so scary when the 'crash' I have experienced may loom again. Like so many I just want to feel normal and functional. I would have no issue SI if I could just understand what my needs are and bridge the gap between NHS provision and wellness. What time period should be left between B12 injections and a MMA test to give 'true' results and is a MMA test meaningful in my situation? Any thoughts?

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Sleepybunny profile image
Sleepybunny

Hi,

Article about MMA from Dutch B12 website. Article is in English.

stichtingb12tekort.nl/weten...

My understanding (I'm not medically trained) is that recent B12 injections/supplements may affect results of MMA tests.

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...

PA

If you suspect PA , probably worth joining and talking to PAS. PAS can sometimes intervene directly on behalf of PAS members and at very least can pass on useful info.

PAS (Pernicious Anaemia Society)

Based in Wales, UK.

pernicious-anaemia-society....

PAS tel no +44 (0)1656 769717 answerphone

PAS support groups in UK

pernicious-anaemia-society....

B12 Deficiency Info website

b12deficiency.info/

UK B12 treatment

Recommended UK B12 treatment for non-dietary B12 deficiency without neuro symptoms is.....

6 B12 loading jabs followed by a jab every 3 months

Recommended UK B12 treatment for B12 deficiency WITH neuro symptoms (any cause of B12 deficiency) is....

A B12 loading jab every other day for as long as symptoms continue to get better (could mean every other day jabs for weeks even months if improvement continues) then a jab every 2 months

This treatment info can be found in BNF, BSH and NICE CKS links below.

If you're based in UK, I suggest reading following documents. Flowchart below outlines when PA and Antibody Negative PA can be diagnosed in UK.

UK B12 documents

BSH Cobalamin and Folate Guidelines

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

Flowchart from BSH Cobalamin and Folate Guidelines

stichtingb12tekort.nl/weten...

BMJ B12 article

bmj.com/content/349/bmj.g5226

BNF

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

NICE CKS

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

NICE CKS link above recommends that GPs should seek advice from a haematologist for patients with B12 deficiency WITH neuro symptoms. If you're in UK, has GP done this?

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 is up to date with UK b12 guidelines.

"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.

Family History

With family history of PA, have you had an Intrinsic Factor Antibody (IFA) test?

IFA test is not always reliable and it's still possible to have PA even if IFA result is negative/normal range. I have read that IFA result can also give false positives if taken close to a B12 injection/supplements

With family history of Coeliac disease, have you been tested for Coeliac disease? If you're in UK, guidelines below recommend that first degree relatives of sufferers are tested. UK guidelines also suggest anyone with unexplained B12, folate or iron deficiencies should be tested.

NICE guidelines Coeliac Disease (2015 version)

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

Best Advice I ever got.....

was to always get copies of all blood test results.

Some forum members get a complete set of medical records. I learnt from experience that when told by GP/receptionist over phone everything was normal, it wasn't always "normal"on the copies.

Maximum cost set of UK records £50

Maximum cost set of blood test results £10

Access to Medical Records (England)

nhs.uk/NHSEngland/thenhs/re...

nhs.uk/chq/pages/1309.aspx?...

Martyn Hooper's blog about PA

martynhooper.com/

There are stories on Martyn Hooper's blog about how PAS has supported members in getting a diagnosis/recommended treatment.

B12 Deficiency Info blog

b12deficiency.info/blog/

Unhappy with Treatment (UK info)?

Letters to GPs about B12 deficiency

b12deficiency.info/b12-writ...

Point 1 in link above is about being under treated for B12 deficiency with neuro symptoms.

CAB NHS Complaints

citizensadvice.org.uk/healt...

HDA patient care trust

UK charity that offers free second opinions on medical diagnoses and medical treatment.

hdapatientcaretrust.com/

Untreated or under treated B12 deficiency can lead to further deterioration including the possibility of permanent neuro damage. Is your GP aware of the risk of spinal damage if B12 deficiency is under treated?

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...

Some GPs/specialist doctors' understanding of B12 deficiency is not as good as it could be so in my opinion it pays to do some B12 homework.

Help for GPs

1) Section on PAS website for health professionals

pernicious-anaemia-society....

2) Leaflet " An Update for Medical Professionals: Diagnosis and Treatment " in PAS library section. Access for PAS members only.

pernicious-anaemia-society.... See Page 1 of articles.

3) I gave my GPs a copy of Martyn Hooper's book "What You Need to Know About Pernicious Anaemia and B12 Deficiency"

More B12 info in pinned posts on this forum.

brionybritbird profile image
brionybritbird in reply to Sleepybunny

Thanks for that. The Dr has not done an IF test, I am negative for coeliac.

Having looked at that first Dutch article it states:

'In case of a B12 deficiency treatment will rather quickly lower MMA levels. Testing sometime after starting treatment, for instance after one or two months, may serve as a confirmation of the B12 deficiency diagnosis. This can also be done when people before treatment have a MMA value which is not distinctly above reference values.'

So it may or may not confirm a diagnosis if treatment with B12 has begun?

I have devoured many of the resources mentioned but I will keep going, and join PAS.

Sleepybunny profile image
Sleepybunny in reply to brionybritbird

Hi,

UK Guidelines specify that people with symptoms of B12 deficiency should have an IF test. See BSH link in my post above.

Have you asked GP what they think has caused your B12 deficiency?

Does GP know about family history of PA and Coeliac disease?

Risk Factors for PA and B12 Deficiency

pernicious-anaemia-society....

b12deficiency.info/what-are...

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

"I am negative for coeliac. "

Were you told this or did you see the actual results? These days I don't trust what I am told about results unless I'm holding copies in my hand.

Which Coeliac tests did you have?

NICE guidelines on Coeliac disease specify two tests....

1) tTG IgA

2) Total IgA

The second test, Total IgA is not always done in UK even though UK guidelines recommend it. Total IgA test checks which people have IgA deficiency.

People with IgA deficiency cannot make the antibodies to gluten that the tTG IgA test checks for and will have negative results in tTG IgA test even if they are Coeliac. People with IgA deficiency need other tests for Coeliac disease. See NICE guidelines or link below.

Coeliac Blood Tests

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

If you only had the tTG IgA test then I don't see how GP can be sure you don't have Coeliac disease.

brionybritbird profile image
brionybritbird in reply to Sleepybunny

Hi Sleepybunny

Your deep delve to help is appreciated.

Consultant gastroentoroligist advised on coeliac (gastroscopy/endoscopy) but a copy of the path lab results would be helpful, I will get onto that. I get your point about have the blood tests and I have all the GPs blood test results now.

Yes GP knows family history - mother is a patient, daughter is known to dr too. I will go back to GP re IF test, see if I can get it done at same time as MMA which has been listed as 'resistant to B12 replacement - ? functional B12 deficiency' on the lab form. We shall see! Thanks again.

I have found Martyn Hooper's book really helpful (could give Dr a copy - great idea), as well as this forum and a PA buddy has kept me sane though you do end up going round in circles as you try to deepen your knowledge and understanding. Thankfully a few more dots are being joined.... all replies are truly appreciated.

Sleepybunny profile image
Sleepybunny in reply to brionybritbird

Functional B12 deficiency is mentioned more than once in next link.

b12deficiency.info/b12-writ...

I am curious as to why you have not been diagnosed with PA already.

Flowchart below suggests that PA can be diagnosed, if there is an objective clinical response to B12 treatment.

stichtingb12tekort.nl/weten...

"Consultant gastroentoroligist advised on coeliac (gastroscopy/endoscopy)"

Do you mean you have had a gastroscopy/endoscopy and no evidence of gut damage was found?

fbirder profile image
fbirder

What do you want the MMA test to show?

If you want it to show that you're B12 deficient without injections then you need to wait several months. But you already know that you're deficient without injections, so that seems a bit pointless.

If you want to show that B12 isn't getting into the cells despite the injections giving high blood levels then you'll want the MMA test done just before your next injection is due.

Personally, in a similar situation, I went down the SI route.

brionybritbird profile image
brionybritbird in reply to fbirder

Thanks fbirder I think that you have captured the issue. It is the Neurologist/Dr that have requested the MMA test not me. My interpretation is that if the test shows that the injected B12 is not getting into the cells we have a different path to tread. If the results do not show defiency (because of having B12 injections - pointles as you say) then it is evidence for Dr to stop injections that meet the deficiency that I know that I have and have evidenced symptomatically. Then I get ill unless I SI. I guess if that happens I know that the cells are getting the B12 and that SI will keep me well. So not an ideal route, but a route nonetheless. Thanks so much for helping me make sence of this.

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