I was diagnosed with Pernicious Anaemia at 27 by a specialist after having various tests for other things, and have been on B12 injections ever since and am now in my 60's. My daughter is 28yrs old and her blood test has just come back with 'low B12'. She told her GP that I was diagnosed in my 20's and expected to have a blood test specifically for Pernicious Anaemia. However her GP has said she doesn't need one as that probably isn't what she's suffering from and has asked her to see a psychologist! I find this a really strange, random thing to do and just wondered if you can ask for a Pernicious Anaemia test to be carried out, if nothing else to rule it out. I was diagnosed by the Schilling Test but I don't think this is used anymore. I'd be grateful for your opinions and comments, thanks.
Can you insist on a Pernicious Anaemi... - Pernicious Anaemi...
Can you insist on a Pernicious Anaemia Test with low B12?
the schilling test was discontinued some time ago because the materials for it weren't readily available. The current general test for PA as a specific cause of B12 deficiency is IFAB and its notoriously insensitive - giving false negatives 50% of the time so a negative wouldn't rule out PA as the cause of B12 deficiency. There has been some promising research on using gastrin as a test but I don't know how widely available that is.Personally I don't really find her GPs response surprising - I was told by a GP that depression wasn't related to B12 deficiency and a load of other rubbish - they just don't understand B12 deficiency.
She can ask for the test to be done but it may open up another can of worms if it comes back negative as the GP will probably take it as ruling out PA. She could try changing to a GP that might be more willing to work with their patients.
Scientist, not medic.
Pernicious Anaemia [PA] is largely a clinical diagnosis, but may be supported by blood tests. So, it needs a doctor involved. PA was first recognised before we even knew what vitamin B12 was. The Schilling Tests came and went for a variety of technical and safety reasons.
The recognition that PA came down to a lack of intrinsic factor [IF] secretion in the stomach was a start, when we didn't know what IF was either!
The recognition of IF antibodies in some cases made diagnosis more straightforward, but only for about 50% of the cases.
It's worth pointing out that if the IF antibody test is negative, it's not actually 'wrong'; it's simply that there aren't any detectable IF antibodies.
In some cases, the antibody titre rises as time goes by, but that's not a given. Some patients never develop detectable IF antibodies, but it doesn't stop them having PA.
If there was a reliable, 100% accurate blood test for PA, life would be so much simpler, but there isn't at present.
You're in the hands of your GP. Either use the one you have, or find another. Good luck.
I think a high MMA and homocysteine would demonstrate her metabolism is suffering from a low B12. I would think that would be the most pertinent point.
Omg! I was shocked reading this. See a psychologist?? How insulting! Wow! No ask for a test! Just wow!!
My response to my daughter was the same! I said 'Yes.........' waiting fir her to tell me what they had found that she should see a Psychologist about, and she said ' No, thats it Mum, it was suggested i see one as I may be getting stressed out in case i have Pernicious Anaemia'. I wouldn't say she was getting stressed out about it as she knows mine has been managed with methylcobalamin injections since my twenties, so why not just test her for it? I don't see the logic of her seeing a Psychologist at all. Thanks for your reply.
I have never heard anything like it! Treating her like she has mental problems! You know the usual..oh it's all in your mind! Absolutely disgusting some doctors. Ask for the test.
Hi,
Maybe you and your daughter would find it helpful to join PAS.
You do not need a confirmed diagnosis of PA to join PAS.
PAS membership is separate to membership of this forum.
PAS (Pernicious Anaemia Society)
Based in Wales, UK.
pernicious-anaemia-society....
There is a helpline number that PAS members can ring.
PAS support groups in UK
pernicious-anaemia-society....
PAS is hoping face to face meetings will restart this year.
Some PAS members have arranged for their doctors to speak to PAS in past. Not sure if this still happens but may be worth contacting PAS and asking them.
PAS website has lots of useful articles and a page for health professionals that her GP may find useful.
Leaflets
pernicious-anaemia-society....
Page for Health Professionals
pernicious-anaemia-society....
Testing for PA
pernicious-anaemia-society....
It is still possible to have PA with a negative result in IFA or PCA test but some GPs may not know this.
About 50% of people with PA test negative on IFA test.
About 20%of people with PA test negative on PCA test.
I've read that gastrin tests and pepsinogen tests may also be useful.
Latest PAS newsletter Spring 2022 ( need to be a PAS member to access) mentioned a new test product for helping to diagnose PA.
pernicious-anaemia-society....
Link about "What to do next" if B12 deficiency suspected or recently diagnosed.
b12deficiency.info/what-to-...
Other blood tests
Has she got results for folate, ferritin or other iron tests and Vitamin D as well as B12?
Forum members often report deficiencies in these. Full Blood Count (FBC) results might also be useful.
Blood tests linked to B12 deficiency
b12deficiency.info/b12-test...
B12 deficiency and folate deficiency can lead to enlarged red blood cells (macrocytosis).
Iron deficiency can lead to smaller red blood cells (microcytosis).
A patient who has both B12 (or folate) deficiency as well as iron deficiency may appear to have normal sized red blood cells on Full Blood Count as the effects of the iron deficiency can mask the effects of the B12 (or folate) deficiency.
It can be tricky to interpret FBC results if a person has all three B12, folate and iron deficiencies.
Macrocytosis
patient.info/doctor/macrocy...
Full Blood Count and Blood Film
labtestsonline.org.uk/tests...
patient.info/doctor/periphe...
There are other iron tests besides ferritin.
Iron Studies
labtestsonline.org.uk/tests...
Unhappy with Treatment (UK info)?
Letters to GPs about B12 deficiency
b12deficiency.info/b12-writ...
Above link has letter templates that cover a variety of situations linked to B12 deficiency.
I think putting concerns in a letter to GP and maybe copied to practice manager makes them harder to ignore.
NHS Complaints
patients-association.org.uk...
Local MP/devolved representative may be worth talking to if struggling to get adequate treatment.
A few people got to the Press/other media
Newspaper article about patient struggling to get B12 treatment in Scotland
eveningtelegraph.co.uk/fp/i...
And a positive follow up story
eveningtelegraph.co.uk/fp/b...
I'm going to post a lot more on this thread so check back later.
I suggest you take at least a week to sift through it so it's not so overwhelming. Some links may have details that could be upsetting.
I am not medically trained, just someone who suffered from unrecognised B12 deficiency for many years.
Risk Factors for PA and B12 Deficiency
pernicious-anaemia-society....
b12deficiency.info/what-are...
b12deficiency.info/who-is-a...
Next link about causes is from a Dutch B12 website
b12-institute.nl/en/causes-...
Symptoms of B12 Deficiency (folate deficiency also mentioned)
pernicious-anaemia-society....
b12deficiency.info/signs-an...
b12d.org/admin/healthcheck/...
cks.nice.org.uk/topics/anae...
b12-institute.nl/en/symptom... (B12 Institute Netherlands)
Symptoms of Peripheral Neuropathy (damage to peripheral nerves)
nhs.uk/conditions/periphera...
Peripheral neuropathy can be associated with B12 deficiency and sometimes with folate deficiency.
Neurological Consequences of B12 Deficiency
PAS news item
pernicious-anaemia-society....
PAS article about SACD, sub acute combined degeneration of the spinal cord
pernicious-anaemia-society....
Will add more below when I have time.
Misconceptions
Some GPs have misconceptions (wrong ideas) about PA and B12 deficiency from other causes...I suspect her GP may be one of them.
B12 article from Mayo Clinic in US
ncbi.nlm.nih.gov/pmc/articl...
Table 1 in above article is about frequent misconceptions about B12 deficiency that health professionals may have.
Misconceptions about a B12 deficiency
(From Dutch B12 website - units, ref ranges, treatment patterns may vary from UK)
stichtingb12tekort.nl/engli...
Blog post that mentions misconceptions about B12 deficiency
b12deficiency.info/a-b12-se...
UK BNF treatment info has changed since above blog post was written.
Diagnosis and Treatment Pitfalls(From B12 Institute in Netherlands - units, ref ranges, treatment patterns may vary from UK)
b12-institute.nl/en/diagnos...
UK B12 documents
NHS article about B12 deficiency and folate deficiency (simply written)
nhs.uk/conditions/vitamin-b...
BSH Cobalamin and Folate Guidelines (aimed at health professionals)
b-s-h.org.uk/guidelines/gui...
Summary of BSH Cobalamin and Folate Guidelines (main points from above document)
pernicious-anaemia-society....
Diagnostic flowchart from BSH Cobalamin and Folate Guidelines which mentions Antibody Negative PA.
stichtingb12tekort.nl/engli...
BNF link below outlines two patterns of treatment for B12 deficiency in UK
1) for those without neuro symptoms
2) for those WITH neuro symptoms
BNF Hydroxocobalamin
bnf.nice.org.uk/drug/hydrox...
If she has neurological symptoms, is she on the treatment pattern for those with "neurological impairment"?
NICE CKS B12 deficiency and folate deficiency
cks.nice.org.uk/topics/anae...
There are currently new NICE guidelines in development for Pernicious Anaemia and B12 deficiency. These should be published in 2023.
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 (over 40 pages of info).
Coeliac disease
UK guidelines below suggest anyone with unexplained B12, folate or iron deficiency should be tested for coeliac disease.
If she was tested in the past and had a negative result, check her GP followed the recommended diagnostic process....some don't.
NICE guidelines Coeliac Disease
nice.org.uk/guidance/ng20/c...
More on Coeliac UK website
Thyroid
Quite common for forum members to also have thyroid issues.
I suggest putting any thyroid results on Thyroid UK forum on HU.
In UK, GPs often only test TSH which won't give a full picture of thyroid function.
There are other thyroid tests a GP or specialist can order.
Thyroid tests
thyroiduk.org/getting-a-dia...
If I had to give just two pieces of advice, they would be
1) always get access to or copies of blood test results
Accessing Health Records (England)
patients-association.org.uk...
Some people access test results and medical records with NHS app.
nhs.uk/nhs-app/nhs-app-help...
2) in UK, get hold of local B12 deficiency guidelines
Local B12 deficiency guidelines
Each CCG (Clinical Commissioning Board/Health Board/NHS hospital trust in UK is likely to have its own local guidelines on treatment/diagnosis of B12 deficiency.
Might be worth tracking down the local guidelines for your area of UK and comparing the info in them with BNF, BSH and NICE CKS links.
Some local guidelines have been posted on forum so
1)try a search of forum posts using terms "local guidelines"
2) try an internet search using "name of CCG/Health Board B12 deficiency guidelines"
3) submit a FOI (Freedom of Information) request to CCG/Health board asking for access to or a copy of local B12 deficiency guidelines.
If you want to know why I urge UK forum members to track down their local guidelines, read the blog post below...
b12deficiency.info/gloucest...
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).
BNF treatment info in book is out of date. See BNF hydroxocobalamin link.
"Could it Be B12?: An Epidemic of Misdiagnoses" by Sally Pacholok and JJ. Stuart (US authors)
Very comprehensive with lots of case studies.
Films and videos about PA and B12 deficiency
PAS conferences
pernicious-anaemia-society....
Films about B12 deficiency
Referrals
If she has neurological symptoms, has she been referred to
1) a neurologist
NICE guidelines neurological referrals
2) a haematologist
Referrals are expensive so if GP is reluctant to refer to a haematologist, she could ask GP to write to a local haematologist for advice on treatment.
3) a gastro-enterologist if gut symptoms present
NICE CKS - when to refer a patient with B12 deficiency to haematologist/gastro enterologist. Neurologist also mentioned.
cks.nice.org.uk/topics/anae...
Be warned that seeing a specialist is no guarantee of better treatment or better understanding of B12 deficiency.
It's fairly common for forum members to have some difficult experiences trying to get a diagnosis and adequate treatment.
NICE experience of healthcare
Adults
Self treatment
Some UK forum members resort to treating themselves as a last resort if NHS treatment is not enough for them.
I fought really hard to get treatment from NHS but was refused so had to treat myself.
There are forum threads about self injection (SI).
Links to forum threads where I left detailed replies with lots of B12 deficiency info eg causes and symptoms, more UK B12 documents, more B12 books, more B12 websites and B12 articles and a few hints on dealing with unhelpful GPs.
Some of the info will be specific to UK.
healthunlocked.com/pasoc/po...
Assistance required with interpreting B12 and Pernicious Anaemia Blood Tests.....
pernicious anaemia on the telly!
fluctuating B12 levels but positive reading for pernicious anaemia
