Genetic PA

[SarahFerguson]

I've been told that there is a proven link to genetics for PA - my father had PA, I have PA and my 18 yr old son is now going thru testing without much luck with all testing regimes-can any of you lovely people provide a link that proves genetics / pa / b12d linked. Many Thanks.

[clivealive Forum Support]

Hi SarahFerguson

google.co.uk/url?sa=t&rct=j...

See under "Causes of Vitamin B12 Deficiency" first main paragraph.

It is an established fact that people with a family history of pernicious anaemia are at risk of developing it.

I've had it for 45 years but mine came about as a result of stomach surgery for a perforated peptic ulcer at the age of 17 fifty eight years ago but I'm still "clivealive" at 75.

[SarahFerguson in reply to clivealive]

Hi Clive, thank you for link. I was looking for a more scientific paper to proven link - do you know of any?

[clivealive Forum Support in reply to SarahFerguson]

Sorry - no - but I guess one or other of the admins will be able to help

[SarahFerguson in reply to SarahFerguson]

Thank you Clive.

[Marz]

rarediseases.org/rare-disea...

[SarahFerguson]

Wow! Thank you Marz.

[Foggyme Administrator]

Here's a medical research paper - click of full text to see the whole paper (complete with medical research references - your GP will like that - print it off if he/she is a non-believer - but how badly astonishing is that):

ncbi.nlm.nih.gov/pmc/articl...

Have you read the all the links in the PAS pinned posts (to the right of the page when you log on or at the bottom if using a phone)? Lots of information that will help,you with your GP - and also help debunk some of their stranger notions.

Good luck and post again if you need more help with your GP and getting diagnosis / treatment.

👍

[SarahFerguson in reply to Foggyme]

Thank you Foggyme, my 18 yr old son was diagnosed with Gastritis in November, as far as I can make out there are two types of Gastritis, one being Atrophic Gastritis resulting from H Pylori infection and the other Autoimmune Gastritis. HIs CLO test which was testing for H.Pylori came back negative, so I am assuming that he has the latter, from my understanding the damage to stomach lining will have an effect at cellular levels and eventually lead to PA. (it may take a years to do the damage but I'm assuming it will happen, bearing in mind I have PA and so did my father. My son already has low B12 (174) ref range 130 -800 and is breathless at times and extremly tired,recurrent (serious) mouth ulcers, struggling at Uni at the moment. I have another GP appointment on Monday morning (i think this must be our 5th appt now) - I spoke to Martyn Hooper last week as my sons Holo TC test came back "satisfactory" I needed to get some adv on what to do next - Martyn directed me to some information from the PAS Library, recent update for health professionals, however, I still have my doubts that i will be taken seriously. He needs to start B12 injections now not wait until the bloody neuro symptoms surface as they did with me.... sorry for language, I just want to go into surgery and bang their heads together.... Ironically I have found a another lady on the PAS site that lives locally and at the same GP surgery as my son and I , she is also having major problems with B12 diagnosis.... We need some help to deal with the GP's in this surgery....

[Foggyme Administrator in reply to SarahFerguson]

Hi SarahFerguson. I do despair at how I'll-informed GP's are...and how willing to ignore symptoms and send patients away with no help whatsoever...and it doesn't get an easier for having to read it so often here.

It's late so no,time to read through your past posts...just a quick question...have you got all the evidence you need to present to your GP (diagnostic processes, what tests to ask for, treatment protocols etc?) And do you need any guidance about how to use this to best effect with your GP.

Just asking as too late for a lengthy reply that might not be required...if you need anything (as above) ,reply here, let me know what advice would help, and I'll leave a response tomorrow (will make a new reply so,you don't have to read a little sausage reply box 😄

[SarahFerguson in reply to Foggyme]

Hi Foggyme, I've gone in with so many pieces of info including bsch flowchart a list of symptoms, took Maryms book in aswell to one appt. they don't look at paperwork I feel that the Gp's we have seen in our partnership practice are supporting each other's decision. I've written 4 letters to practice manager and she has referred my clinical reference back to Gp for an answer, still waiting for written response. (That was a month ago now) Marcus has had GPC , IF and Holo tests all back satisfactory.... that's what I'm up against , the gp's are looking ot blood tests. Not symptoms and family history. I'm so worried that my son will start getting to ill to continue with his first year at Uni.

[Foggyme Administrator]

Hi SarahFerguson. Oh dear...this is just so bad. To write to your surgery four times and still be waiting for an answer one month on is just not good enough.

Some practice managers and good and will respond quickly...and some are really bad...and all are employed and paid by GP's...

So...it's quite difficult to how much information you've been given and what exactly the contents of your letters to your GP's have been.

And your GP's are obviously ill-informed about PA and B12 deficency, as is obvious by the way they are dealing (or not) your son's case. Given your family history, his low (not quite deficent B12 - but it soon will be), and his symptoms, they should be treating him now (as you recognise).

And I think you're right about your GP's all supporting each other and taking a misguided and I'll-informed approach to treatment.

Also - just wondering - did they test MMA and homocysteine - tests to indicate if B12 is being processed properly by the body - usually high in B12 / folate deficiency - advised in the BSH diagnostic protocol. And have your GP's heard of antibody negative PA - again, detailed in that protocol - may be relevant in your son's case. Also - did they test folate levels (B12 and folate work together so,if folate is deficienct or low,in the reference range the body cannot utilities B12 properly. Tested ferritin and vitamin D levels - often low in B12 deficiency - can make you feel very ill indeed).

About your problems getting treatment -

The first thing is - you could ring Martyn and ask him to intervene on your behalf (tell him you've followed his initial suggestions and nothing has worked)...OR you could proceed as follows:

I don't have too much time right now so what I'm going to do is put in a few paragraphs about arguments to make in yet another letter to your GP (a final one before complaint escalation to NHS England - the body who contract GP's to deliver services). The letter should be to a named GP rather than to the practice manager (puts one person firmly in the spot-light and makes one individual accountable).

(Your son is eighteen so may be a good idea to include a short statement signed bu him stating that your are authorised to speak/act on his behalf).

At the end of the reply, I'm going to paste in some links that will give you all the evidence you need to support your letter (again, because I'm not quite sure what has gone before).

Suggestions for your letter (in short):

Disappointed by lack of response to previous four letters - waiting over a month for a reply

Making a final appeal for appropriate treatment for your son

Because of family history, your son's low serum B12 and ongoing symptoms of B12 deficiency firm belief that he is developing PA

Include evidence genetic link to PA - paper already given in previous

Outline issues to do with relying on serum B12, active B12, GPC, and IF test results -

Evidence shows serum B12 test not a good way to evaluate B12 status - possibelmto have an apparently 'normal' B12 result but still be B12 deficient - all guidelines state treat the symptoms, not the blood test results.

GPC test - not longer advised as a test for PA - unreliable

IF test - 50% of tests return false negative results. PA still a possibility if the result is negative

Active B12 result - only shows how much is in blood - tells you nothing about what is happening at a cell level (I.e. whether or not B12 is getting to the cells, where it is needed)

Highly problematic relying on test results alone to terming the presence of B12 deficency.

Include symptom checklist as evidence of symptoms (PAS symtpom list and also download one from B12deficiency.info (a more comprehensive list - use the one which best matches your son's symptoms)

State that you are concerned that the failure to treat your son's obvious symptoms of B12 deficiency may expose him to the potential for developing subacute degeneration of the spinal cord - a condition that occurs if B12 deficency is under treated in the early stages (download details about this condition from the PAS website and include with your letter). I'm not suggesting he has this or that he will develop it - many GP's are unaware of the neurological havoc that B12 deficency can wreak on the body - seeing this evidence will focus their minds a tadge!

Again - reiterate your request for treatment.

If they are unable to offer treatment, ask them to put this in writing to you and explain their decision, providing medical evidence to support that decision (they won't be able to because there isn't any).

Ask for an urgent appointment to discuss this matter further...or a written response with five working days...

State that if you do not receive a response within that timeframe you will copy your letter and escalate your treatment request and concerns to NHS England.

Finally, state that you sincerely hope the [named GP] will review all the information you provide before your appointment so that best use can be made of the time availabe when you see him/her.

Sorry - but no time to provide more detail about the things I've said above but...all the information to support what I've said is contained in the documents I've provided links for below. Go through each document and highlight the sections that best evidence the arguments above and include them all with your letter. Your GP will have to read them - they evidence which will go on your medical records so they will not be able to ignore them - and the evidence speaks for itself - your son should be treated - and they will ignore at their peril!

And having read the links below, you'll probably discover more things you could include in your letter.

Needless to say, the more evidence you include the less liklihood that they can continue to ignore or dismiss your concerns.

Finally... if you've already made all the arguments above, you should escalate to NHS England immediately rather than wait (tell your GP you are doing this - might cause them to act).

And...are you able to change your GP surgery (though no guarantees that a new GP would be any better - just the hope that they may be).

Sorry...not time for more...hope something here is useful...

Good luck...and here's the links to the evidence you can use tosupport your arguments:

b12researchgroup.wordpress.... (Serious Caution Note about the use of Oral and Sublingual B12 Supplements)

evidence.nhs.uk/formulary/b... (BNF B12 Deficiency: Hydroxocobalamin Treatment Regimes)

pernicious-anaemia-society.... (PAS Symptom Checklist)

stichtingb12tekort.nl/weten... (BSH B12 Deficiency / PA Diagnostic Flowchart)

onlinelibrary.wiley.com/doi... (British Society Haematology (BSH) Guidelines: Treatment of B12 Deficiency and Folate Disorders)

onlinelibrary.wiley.com/doi... (UKNEQAS B12 Treatment Alert, Neurological Symptoms and Risk of Subacute Combined Degeneration of the Spinal Cord)

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 Treatment Safety / Long Term Treatment for neurological symptoms)

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... (Methylmalonic Acid – MMA)

cdc.gov/nchs/data/nhanes/nh... (Homocysteine and Testing Information)

Good luck with all this....let us know,how it goes and post again if you need more help or advice...👍

P.s. Include argument that 30% of people with B12 deficency present without Macrocytosis (large red blood cells - what your GP may be looking for - tends to develop later in the disease process) and with neurological symtpoms. Check the symtpoms list - your son may have nueological symptoms without knowing that they are neurological in nature). Evidence about this in the links provided.

P.p.s head your letter Final Appeal for Treatment prior to Escalation - or something along those lines.

[MandyPandy in reply to Foggyme]

Hi Foggyme, as you have been so helpful in suggesting things for me over the last few days with my issues, just thought I would let you know that Sarah is making the link with myself as the lady who is also suffering in the same surgery. Hopefully between Sarah and myself we can fight the surgery and get them to rethink their procedures with regard to B12.

[Foggyme Administrator in reply to MandyPandy]

Hi MandyPandy. Oh dear...just disgraceful. I've just left a reply to Sarah...you. Ithe find something of use in there...and lots of evidence that you. Ishtar find useful in your battle with these rather ridiculous and ill-informed GP's.

Oh....just realised...you're in Sarah's post so,you've seen it....😄😄😄😄😄😄.

Good luck to,you both...and let us know how you get on...be very interested to hear 👍

[SarahFerguson]

Hi Foggyme, it is disgusting how we've been treated... no, MMA and hystociene bloods have not been requested. I will be asking for these tests on Monday at next appt. when I asked for Holo Tc Gp said she would speak to Haemotolgist - all we got was a blood form and a call from Gp to say she had spoken to Haemo and they said yes to Holo test! I'm going to see how Gp apt goes Monday and then speak Martyn again. Did I mention that I'd been in contact with another pas member who is at the same surgery having similar issues. Her case is so much more advanced than my sons and again there is a family history of PA for her.

[Foggyme Administrator in reply to SarahFerguson]

Really suggest you write as suggested - formalising things mean they have nowhere to hide...and I don't think they're going to treat unless presented wil all the evidence.

About the Neuro symptoms - includes things like meme or and concentration issues. If present, include the NEQAS Alert - in links - states if neurological symtpoms present treatment with intensive B12 therapy should commence immediately (after the loading doses - every other day until no further improvement) - even in the presence of apparently 'normal' serum B12 readings.

Given history family history and low / falling B12 levels - think treatment required even if MMA and homocysteine levels are not raised, which may turn out to be the case).

They should be looking at famy history and treating symptoms (not just reading test results, in isolation) and they're not!

Good luck.

P.s. Most of the information you present will be 'new' to your GP's and having seen it, they may well change their approach to treatment - or at least, they should 😄

[SarahFerguson]

Mandy/Foggyme I'm on the verge now of taking Marcus to private clinic for first injection to make sure no reaction to b12 jab.... then continue with si as I do myself..

[Sleepybunny]

Hi,

Family Link in PA

pernicious-anaemia-society....

ncbi.nlm.nih.gov/pmc/articl...

ncbi.nlm.nih.gov/pubmed/212...

Stories on Martyn Hooper's blog about family link in PA

martynhooper.com/2012/06/19...

martynhooper.com/2016/08/19...

Possible reason to explain lack of treatment...

I wonder if reluctance to treat your son is due to GPs using local area NHS guidelines on B12 deficiency. Some of these local NHS guidelines have not been updated for many years and may not take account of advice in the BSH Cobalamin and Folate Guidelines.

I'd suggest it may be helpful to track down local B12 deficiency guidelines. Possible ways of finding them.

1) Internet search

2) Search on local NHS website. May be under haematological guidelines/policies.

3) FOI (Freedom of Information) request to local NHS website

4) Request to GP practice manager for copy of, title of, B12 deficiency guidelines being used by GP practice. Possible that this may irritate them.

5) Local CCG if in England should be able to tell you what B12 deficiency guidelines are being used in your area.

nhs.uk/servicedirectories/p...

6) If all else fails then local MP may be able to help. Can be very useful in getting answers from officials who are unable to respond to members of public. Most MPs websites will have a list of dates for advice surgeries.

parliament.uk/mps-lords-and...

If local MP is caring, he/she may be interested in hearing about difficulties for B12 deficiency/PA patients in area.

Unhappy with treatment?

Letters to GP about B12 deficiency

b12deficiency.info/b12-writ...

CAB

citizensadvice.org.uk/healt...

HDA pct

Have you considered contacting HDA Patient Care Trust?

HDA pct are a UK charity that offers free second opinions on medical diagnosis and treatment.

hdapatientcaretrust.com/

Think HDA pct require a full medical history. They are usually quick to respond to enquiries.

BSH Cobalamin and Folate Guidelines

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

[SarahFerguson in reply to Sleepybunny]

Thank you sleepybunny-very helpful info. The Gp is having a meeting with partners in surgery about b12 jabs for my son. I need to go back on the 7/4/17 to find out what they decided after looking at my sons notes. Fingers crossed. I did say that I'd contact NHS England with complaint if not a favourable response for sons treatment. Mandypandy take a look at this!