Martyn Hooper MBE – Chair of the PAS

~ The Chair’s Blog ~

Cause for Concern – Parents & Pernicious Anaemia

by | Jul 21, 2017 | 5 comments

I have recently been involved with a case involving a two-year old, the son of one of our members. It’s an interesting case that highlights the problem of Pernicious Anaemia in young children. This isn’t the first case of infant or juvenile Pernicious Anaemia I have come across. I know of several other such cases but this particular case highlights the problems surrounding childhood Pernicious Anaemia – and there seems to be a worrying pattern developing when children have one or both parents with Pernicious Anaemia.

Developmental Delay

This little boy’s mother has a confirmed diagnosis of Pernicious Anaemia (though for some unknown reason it isn’t stated on her medical records – but that’s another story) as does his grandmother and great aunt on his mother’s side. And, as it is now recognised that the disease can and does run in families, the mother is vigilant for any signs of the disease in her child, so when there were concerns about development delay in the little boy the mother, quite rightly as far as I’m concerned, suspected that any signs of delay could be due to her son having Pernicious Anaemia.

And this is where the problems begin. Parents, usually the mother, are often suspected of being over-vigilant and too ready to assume that any unusual behaviour in their child could be due to the baby inheriting the condition. And because they know how debilitating the disease can be the mother and father are anxious to have their child examined to rule out, or in, whether any unusual behaviour is caused by infant or juvenile Pernicious Anaemia. Unfortunately, the mother isn’t always taken seriously and is usually regarded as being obsessed and irrational; The mother’s vigilance is considered to be ‘over the top’. And there are several reasons why parents are considered to be neurotic.

Firstly, not all doctors are aware that the disease does run in families and that the offspring of parents with Pernicious Anaemia have a good chance of inheriting the disease from their parent or parents. It could also be that the disease may have skipped a generation and that another of the child’s blood relatives had previously been diagnosed with the disease making the little one susceptible to developing PA.
Secondly, the parent may have been told he or she was suffering from B12 Deficiency but, because of the unreliability of the Intrinsic Factor Antibody Test will not have a confirmed diagnosis of PA, and, because there is no firm diagnosis any family link is ruled out.

Above the Threshold

And then there’s a third reason, one which was made quite clear to the parents and me when we were at the appointment with the family GP – children do not follow a set pattern when developing and some children are late, or early, in reaching development milestones. This particular child was stumbling, had a small vocabulary and was sleeping a lot. The GP wasn’t particularly worried though she was sympathetic to the concerns of the parents. Were the parents worrying unduly? Were they being neurotic? I don’t think so. I think it right that patients who have Pernicious Anaemia should be vigilant about the behaviour of their children. In this particular case, the GP produced the last blood examination taken a year before which showed a level of serum B12 that was above the threshold used to define a deficiency; it was, however, on the lower end of the scale. And here we have the other problem. The doctor was not really concerned about the level of B12 in the little boy’s blood – it was ‘normal’, but what would concern parents is the fact that the serum B12 was ‘in the lower part of the range’. Put two and two together and, from a parent’s point of view, there is a cause for concern.
It’s not widely known that babies and infants should have a level of B12 in their blood which is significantly higher than in adults – the threshold used to determine a deficiency is therefore higher. Laboratories take this into account when producing the result, or at least they should.

True Picture

Then there’s the issue of parents ignoring the test results both for serum B12 and for the Intrinsic Factor Antibody because they know that both tests are seriously flawed. However, for now at least, they are the only tests available to GPs. The parents know these tests are seriously compromised but the doctor will rely on them to give a true picture of the child’s B12 status (especially if he or she has not read the new Guidelines from the British Committee for Standards in Haematology). And this insistence of the parents that their child has low B12 status can and does lead to a severe escalation of the situation.
In three cases this year, the mother’s insistence that any unusual behaviour of her child is attributed to low B12, and the continued demand for a therapeutic trial has led to the mother being diagnosed, or threatened with being diagnosed, as having Munchausen Syndrome by Proxy (MSBP) – a serious psychiatric disorder. And this leads to frantic and desperate telephone calls to the PA Society’s hotline with mothers desperate with worry that their child will be taken into care; in two cases this did happen because the mother was administering B12 without the doctor’s consent – a highly dangerous practice as it demonstrates the parent treating a disease that hasn’t been diagnosed by medical professionals; as far as doctors are concerned the parent is ‘inventing’ a disease which is seen as hard evidence that the parent has MSBP.

Unreliable Tests

So, a combination of unreliable tests, the chances of children inheriting the disease, the wide range of symptoms, the general belief among medical professionals that PA is a disease of middle or old age and the reluctance of doctors to administer B12 as a therapeutic trial produces a heady cocktail that can and does lead to a family crisis that is not easily resolved. I know of no conversation taking place where the pitfalls in the diagnosis of Pernicious Anaemia and children is being discussed; and there should be one.
And what about the little boy whose parents I accompanied to their GP? He has been referred to a Paediatric Haematologist, though at the visit the GP didn’t know of anyone. In fact, I read in a newspaper yesterday that there is a national shortage of Paediatric doctors and that one in four positions are unfilled in the UK.
At the end of the consultation I presented the doctor with a pen-drive which contained all of the latest papers I can find on Juvenile Pernicious Anaemia which means I have done all that I can do – raise awareness that children are at risk of developing Pernicious Anaemia from their parents. Let’s hope that things improve in the future and the little boy grows up fit an healthy.

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  1. david john

    pernicious anaemia does run in families , I have it, and my grandfather died of it, in the days before b12 injections, it was on his death certificate as cause of death

  2. Nic swan

    There are many causes apart from PA for B12 deficiency.
    Functional B12 deficiency,bacteria overgrowth,gut issues including low stomach acid and medicine formit including proton pump inhibitors and antacids .
    Certain anaesthetic.
    Diverticulitis .intesinal scaring and abdominal surgery including gastric band and more .
    Having gene mutation.
    Low folate .

    Parasites and of course diet .

    • Martyn

      This piece is about how parents and grandparents with Pernicious Anaemia are likely to be rightly anxious about their children developing the disease as it does run in families. It wasn’t about the other causes of B12 Deficiency. Many people will be told that they have B12 Deficiency (whatever that means) without a diagnosis of Pernicious Anaemia because the IF Antibody test is now discredited. It was addressing the issues parents with PA face and not about the other causes of low B12. And let’s remember that it is now acknowledged that Autoimmune Metaplastic Atrophic Gastritis (PA) is the biggest cause of B12 Deficiency though routinely missed. 33% of members of the Pernicious Anaemia Society waited over 5 years for a diagnosis…’s about Pernicious Anaemia, not other causes of low B12. This is my blog as Chairman of the Pernicious Anaemia Society – there are other organisations who cater for the other forms of B12 Deficiency.

      • LJM

        Terrifying article. Thanks for posting.

        Re. PA versus other forms of B12 Deficiency – I think many of us are unable to ‘prove’ we have PA. Doctors will often not run the tests to rule out other causes, and tests which are run are inaccurate when looked at without taking symptoms into account, as I understand it. I ‘believe’ I have PA according to long term symptoms and response to treatment, I think it very likely that my elderly parent has it – I remember her saying she had anaemia often, and that doctors had told her to ‘eat plenty of liver’ – her terrible symptoms bear out the possibility, plus the presence of other auto immune disorders. But there are also lifestyle and medication factors which might equally have led to a deficiency rather than PA itself. I see my son showing symptoms too. It’s all very frightening.

  3. MightyDrunken

    That looks like a nasty nexus of issues. From your write-up of these cases I feel the problem here is with the medical profession more than the parents. These cases represent a cycle:
    – Possible problem with the child
    – Worried parents latching onto an idea they know about
    – Doctor testing with flawed (but useful) tests
    – Tests coming back OK
    – Worried parent unsatisfied.

    To break out of the cycle the child’s problem needs to be explained, or the parents listened to or convinced otherwise. Every parent probably suffers from irrational worry about their child at some point. It looks to me the easiest way to break this cycle is to trail B12 as you suggest. What shouldn’t be happening is the threat of a Munchausen Syndrome by Proxy diagnosis. This should only be reserved when the child is in clear danger.
    Irrational worry by a parent is “normal”. Purposefully making their child sick, or changing the tests results is not, I assume there was no evidence of that.
    Keep up the good work Martyn.


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