Advice for my daughter please - possi... - Pernicious Anaemi...

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Advice for my daughter please - possible PA?

Jacs profile image
Jacs
12 Replies

Sorry for the long post and lack of test results but I’d be grateful for some advice on next steps

My daughter has Hashimotos thyroid disease and is treated with T4 only. I think she probably needs T3 too but it’s proving impossible to get an endo apt, and she’s not keen to self-prescribe

Over the last 6-9 months she has been extremely fatigued, more so than ever, and is constantly needing to nap - not great for a primary school teacher! She’s virtually always yawning.

She suffers from constant throat infections & often has a cough

A lot of these symptoms have been put down to her ‘busy, stressful job’ and working with children but I’ve been pushing her to get various tests from her reluctant GP

Back in September she had various bloods including an MCV which was abnormal with large blood cells. Nothing was followed up but I advised her to take some supplements I was previously advised - namely Nutri vit b12 plus folate with intrinsi factor and Thorne basic B complex, thinking it would be good to get her levels up

She’s had another B12 test (after stopping supplementing for 2w) which shows she is now a third of the way through the range - obviously still low, and it’s the standard rather than Active B12 test

I’m concerned that she could be getting PA but don’t know what to advise/what tests to order privately (her doc basically thinks she’s a time waster as her thyroid results are always in range, although they don’t test T3)

It’s likely that she has a MTHFR defect and DIO2 as I do (going to test that to confirm)

What else should we do to rule out (or in) PA?

Any advice gratefully received. Thanks

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Sleepybunny profile image
Sleepybunny

Hi,

Welcome to the forum.

Here's some useful links for you and your daughter.

Some links may have details that could be upsetting to read.

Link about "What to do next" if B12 deficiency suspected or recently diagnosed

b12deficiency.info/what-to-...

Has she had any tests for PA and Coeliac disease?

There are lots of possible causes of low B12.

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-...

UK guidance suggests that people who are symptomatic for B12 deficiency should be treated even if serum B12 is within range.

Are her 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... (from B12 Institute Netherlands)

PA (Pernicious Anaemia)

If PA is suspected, it's worth joining and talking to PAS who can offer support and pass on useful information.You do not need a confirmed diagnosis of PA to join PAS.

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 to membership of this forum.

PAS support groups in UK

pernicious-anaemia-society....

Testing for PA

pernicious-anaemia-society....

I've also read that a pepsinogen test may be useful.

A negative result in Intrinsic Factor Antibody (IFA) test does not rule out PA.

It's possible to have Antibody Negative PA but some GPs may not know this.

PAS website has lots of useful leaflets/articles and a page for health professionals that might be worth pointing out to her GP.

pernicious-anaemia-society....

pernicious-anaemia-society....

Unhappy with Treatment (UK info)?

Letters to GPs about B12 deficiency

b12deficiency.info/b12-writ...

Link above has letter templates covering a variety of situations linked to B12 deficiency.

Point 1 is about being under treated for B12 deficiency with neurological symptoms present.

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

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

b12deficiency.info/your-ser...

UK B12 documents

NHS article about B12 deficiency and folate deficiency (simply written)

nhs.uk/conditions/vitamin-b...

BSH Cobalamin and Folate Guidelines (detailed/aimed at health professionals)

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

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 neuro symptoms, I would expect her to be on the treatment pattern for those with "neurological involvement".

Another link explaining B12 treatment in UK

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

NICE CKS B12 deficiency and folate deficiency (aimed at health professionals, quite easy to read)

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

NICE guidelines Coeliac disease suggests patients with unexplained B12, folate or iron deficiency should be tested for coeliac disease.

nice.org.uk/guidance/ng20

If she's been tested for coeliac in past and had a negative result, check doctors followed the recommended diagnostic process.... some don't.

A person with coeliac disease can get a negative result in tTG IgA test (which looks for antibodies to gluten) if

1) they have IgA deficiency

Did she have a Total IgA test (which checks if patient has IgA deficiency)?

IgA is an immunoglobulin.

2) they were not eating enough gluten before blood was tested

Was she asked to eat plenty of gluten in more than one meal per day for several weeks before blood taken for testing?

More info on Coeliac UK website

coeliac.org.uk/home/

Local B12 deficiency guidelines

I urge UK forum members to track down local B12 deficiency guidelines for their ICB (Integrated Care Board) or Health Board as GPs are likely to refer to this for diagnosis/treatment.

CCGs (Clinical Commissioning Boards) were replaced by ICBs in England in July 2022.

List of ICBs England

nhs.uk/nhs-services/find-yo...

Try online search or submit a FOI (Freedom of Information) request to ICB/Health Board website asking which B12 deficiency guidelines are used locally and asking for a link to or copy of them. Some local guidelines have been posted on this forum.

See UK blog post below if you want to know why I urge UK forum members to find their local guidelines

b12deficiency.info/gloucest...

Fingers crossed you don't live there.

Two useful B12 books

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

Martyn Hooper founded PAS (Pernicious Anaemia Society).

UK 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.

I hope she finds a kind and helpful GP who listens and understands B12 deficiency.

I am not a health professional just someone who suffered for years from unrecognised and untreated B12 deficiency.

Sleepybunny profile image
Sleepybunny in reply toSleepybunny

"she had various bloods including an MCV which was abnormal with large blood cells. Nothing was followed up"

This should have been followed up.

Enlarged red blood cells (macrocytosis) can be associated with B12 deficiency and folate deficiency. There are other causes as well.

Has she got recent results for folate, ferritin (and other iron tests) and Vitamin D?

Forum members often report deficiencies in these as well as B12.

Referrals

I used to put referral requests into a short, polite letter to GP and included evidence to back up the request eg symptoms list, quotes from UK health documents.

NICE guidance Suspected Neurological Conditions

nice.org.uk/guidance/ng127

NICE guidelines - when to refer B12 deficient patient to

neurologist

haematologist

gastro- enterologist.

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

I think it's useful to for her to know some of the common wrong ideas that health professionals have about B12 deficiency .

B12 article from Mayo Clinic in US

The Many Faces of Cobalamin (Vitamin B12) Deficiency

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...

UK blog post that mentions misconceptions about B12 deficiency

b12deficiency.info/a-b12-se...

Diagnosis and Treatment Pitfalls

(From B12 Institute in Netherlands - units, ref ranges, treatment patterns may vary from UK)

b12-institute.nl/en/diagnos...

It's vital to get adequate treatment for B12 deficiency. Inadequate treatment can increase the risk of developing permanent neurological damage including damage to spinal cord.

PAS article about SACD, sub acute combined degeneration of the spinal cord

pernicious-anaemia-society....

Blog post from Martyn Hooper's blog, mentions SACD

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

Films and videos about PA and B12 deficiency

PAS conferences

pernicious-anaemia-society....

Films about b12 deficiency

b12deficiency.info/films/

"My daughter has Hashimotos thyroid disease"

I suggest she puts her thyroid results on the Thyroid UK forum on Health Unlocked along with an outline of her story.

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 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...

Sleepybunny profile image
Sleepybunny in reply toSleepybunny

Some UK forum members turn to treating themselves as a last resort if they cannot manage on NHS treatment.

Some get extra injections from private GPs or beauty salons. Some use high dose oral tablets or drops and some turn to self injection using injectable B12 from Europe.

I had to treat myself when NHS refused to treat me.

Link to article which discusses UK patients who self inject B12

Patient safety, self-injection, and B12 deficiency: a UK cross-sectional survey

Natasha Tyler, Alexander Hodkinson, Naeem Ahlam, Sally Giles, Andrew Zhou and Maria Panagioti

British Journal of General Practice 3 October 2022; BJGP.2021.0711. DOI: doi.org/10.3399/BJGP.2021.0711

bjgp.org/content/early/2022...

Petition

There is currently a petition to get injectable b12 available over the counter in UK.

Petition comments are interesting to read.

change.org/p/dr-june-raine-...

Tracey Witty of B12 Deficiency Info has been campaigning on this issue for 8 years.

b12deficiency.info/eight-lo...

"her doc basically thinks she’s a time waster "

Have a look at this forum thread I started on Patient Safety in UK.

It has lots of useful links for people who've had bad health experiences.

healthunlocked.com/pasoc/po...

Jacs profile image
Jacs in reply toSleepybunny

Thanks Sleepybunny for such a comprehensive response. It will take me a while to get through & understand this!

She’s had a coeliac test before which was negative but while she was living with me she was GF and sure she was much better - I’ve advised her to cut gluten out again because I’ve an intolerance to a gluten protein and have been so much better since removing it from my diet.

She’s had various bloods (I don’t have all the results) but they are very sporadic. I’m going to get her a comprehensive set done privately inc folate, ferritin, iron & vit D - Is there an active B12 test you can recommend?

Also is it sensible for her to keep taking the supps with instrinsi, folate & b12 before she has these tests? I know folate can mask a b12 deficiency (not exactly sure how) but also want her to raise her levels asap.

Jacquie

Sleepybunny profile image
Sleepybunny in reply toJacs

Hi again,

"She’s had a coeliac test before which was negative"

When she had the coeliac test which I assume was the tTG IgA test, was she also tested for IgA deficiency?

People with IgA deficiency need different tests for coeliac disease.

They will get a negative result on tTG IgA test for coeliac disease because their bodies cannot make the antibodies to gluten that it checks for.

Was she told by her doctors to eat plenty of gluten in more than one meal per day for several weeks before her blood was tested?

People with coeliac disease who don't eat enough gluten before their tTG IgA test may get a negative result because there are not enough antibodies to gluten in their blood to register a positive result.

I'm mentioning this because there may still be a chance that she is coeliac if she didn't have a Total IgA test (checks for IgA deficiency) or wasn't eating much gluten before she had the tTG IgA test.

I suggest she checks her test results to see if she had a total IgA test at same time as tTG IgA test.

Gluten is in a surprising amount of products so definitely worth pursuing coeliac diagnosis if it's a possibility in my opinion.

Coeliac UK link about diagnosis

coeliac.org.uk/information-...

"I’ve an intolerance to a gluten protein "

Were you properly assessed for coeliac disease?

See NICE guidelines Coeliac disease link in one of my other replies.

Sleepybunny profile image
Sleepybunny in reply toSleepybunny

"going to get her a comprehensive set done privately"

Just be aware that NHS doctors may not accept results of private tests but hopefully private tests that show something significant may be enough to nudge GP into ordering the same tests on NHS or to refer her to NHS specialist.

Blood tests linked to B12 deficiency

Blood tests

b12deficiency.info/b12-test...

Macrocytosis

patient.info/doctor/macrocy...

Full Blood Count

labtestsonline.org.uk/tests...

Blood film

patient.info/doctor/periphe...

Folate Deficiency

patient.info/doctor/folate-...

Iron Studies

labtestsonline.org.uk/tests...

"Also is it sensible for her to keep taking the supps with instrinsi, folate & b12 before she has these tests? "

Taking B12 supplements may affect the results of serum (total) and Active B12 (Holotranscobalamin) tests, also results of MMA and Homocysteine tests if she has those.

See link below about What to do next if B12 deficiency suspected.

b12deficiency.info/what-to-...

I know Intrinsic Factor Antibody test can give a false positive if blood is taken close to having a B12 injection. Doctors would usually leave from two days up to two weeks after a B12 injection before testing IFA.

I'm not sure what effect B12 supplements could have on IFA test.

"I know folate can mask a b12 deficiency (not exactly sure how) but also want her to raise her levels asap."

Treating a folate deficiency without treating a co-existing B12 deficiency can lead to neurological problems. B12 treatment would be started first.

Both B12 deficiency and folate deficiency can lead to macrocytosis, enlarged red blood cells.

If a person with both deficiencies is just given folate then the body will start to produce normal sized red blood cells again and a doctor may not realise that the person also has B12 deficiency. The neurological effects of B12 deficiency will continue if untreated.

BNF Folic Acid

bnf.nice.org.uk/drug/folic-...

See Cautions section in above link which says that folic acid should never be given on its own for PA (Pernicious Anaemia) or other megaloblastic anaemias caused by Vit B12 deficiency as this may lead to SACD, subacute combined degeneration of the spinal cord.

If she has neurological symptoms, I suggest she pushes for a referral to a haematologist and neurologist. See NICE Guidelines B12 deficiency and Folate deficiency link. Look in Management section.

Just to say again that I'm not a health professional just a patient who had a long and difficult route to getting treatment.

If she thinks PA is possible then probably worth her joining and talking to PAS.

PAS membership

pernicious-anaemia-society....

Good luck

Jacs profile image
Jacs in reply toSleepybunny

Thanks again Sleepybunny I realise docs don’t necessary take private tests into account but my daughter has been complaining for >1 yr and the limited tests, months apart make it difficult to establish a clear picture. At least we would have that and be able to act with knowledge.

I can’t remember exactly what test I had for gluten, i’d have to find my results, it was through a functional doc and possibly called Cyrex Array test - i had so many at the time I can remember, just remember the implications!

Jillymo profile image
Jillymo

I wish I could be more supportive with advice but I am sure others with more knowledge than myself will be able to assist you. It sounds as if your daughter just like mine is unfortunately following in your foot steps. I would have thought it highly probable she has a B12 deficiency.

Out of interest how did you get these genes tested ? I have asked to be seen by a geneticist to be told they dont know of one.

I also have the thyroid issues ( Graves ) but managed to persuade my endocrinologist to prescribe T3 albeit they still only test my TSH which is infuriating. I am due to see the endo next month and will ask him to look into genetic testing. I hope your daughter receives the care she needs.

Jacs profile image
Jacs in reply toJillymo

Thanks Jillymo for taking the time to read and respond. I know only too well how difficult it is to manage Thyroid health (i self medicate with T3 & get referred to Endo because I have suppressed TSH but have already told them I won’t stop as it’s what makes me well; my daughter on the other hand who has all these symptoms has been refused an apt as her bloods are ‘in range’ - it’s infuriating 😡)

I had private testing some years ago via the Regenerus labs, both MTHFR and DIO2 (worth getting both together as one impacts the other) My doc wasn’t interested but it gave me the confidence to start T3 and understand /manage my own health issues.

My daughter being much younger is reluctant to go outside of standard healthcare at the moment. As a primary school teacher she doesn’t earn a fortune either so long term private treatment is not appealing (though she may ultimately come to that conclusion) so I’m trying to help her get the best from the system by reasearching as much as possible and paying for additional tests to get a full picture

Jillymo profile image
Jillymo in reply toJacs

My daughter was also refused medication even though she were showing symptoms and now self medicares where as I havn't had the confidence tgo do so myself.

My previous ebdo was seriously over medicating me so my new Dr became concerned and contacted an endo I had never seen let alone met. They reduced my thyroxin by 100mcg sending my body into turmoil, it wasn't even done gradually ! My TSH has now gone from extreme to now being suppressed.

I have done private testing but not looked into MTHFR or DI02 but will be mentioning it to my endo next month. None of them seem to look at the full picture or join up the dots.

Your right it is infuriating. 🤬

maribeth1 profile image
maribeth1

Look for motor symptoms - pins and needles in the fingers, or numbness. Difficulty walking - unsteady gait, legs don’t quite belong to her, hitting ‘the wall’ after walking only a little way.

These are quite advanced symptoms, as thyroid issues and MTHFR can mask the early symptoms of PA, or present with the same issues, but the enlarged blood cells, as far as I know, don’t come from either of those sources, so PA is strongly on the cards.

Jacs profile image
Jacs in reply tomaribeth1

thank you 👍

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