The Problems with the Symptoms, Diagnosis and Treatment of Vitamin B12 Deficiency by Martyn Hooper, founder of the Pernicious Anaemia Society
I’m going to make a bold statement. There are serious problems with the way in which Vitamin B12 deficiency is diagnosed and treated. There may even be what Sally Pacholok and Jeffrey Stuart describe in their book Could it Be B12? as ‘an epidemic of misdiagnoses’.
I know from first-hand experience how the symptoms of B12 deficiency can be ignored or associated with another disease, as I developed serious neurological damage through being severely deficient in B12 for a number of years. I underwent MRI scans and other expensive investigations with neurosurgeons, neurologists and seven or eight GPs. It was only when my sister, who is a nurse, eventually decided to take an armful of blood that I finally received a diagnosis of having ‘sub-acute combined degeneration of the cord secondary to pernicious anaemia’. Lacking this precious and essential vitamin can and does have very serious consequences. That is why it’s important to be aware of the symptoms of being B12 deficient in order to correct any deficiency early.
What does vitamin B12 do?
A normal healthy person will have normal and functioning parietal cells in his or her stomach. These cells will produce a Proteins are large molecules consisting of chains of amino acids. Proteins are essential nutrients for the human body – they are a building block of… called intrinsic factor, which binds to any animal product eaten, including meat, fish and dairy products, and produces vitamin B12. Vitamin B12 is essential to produce healthy red blood cells that transport oxygen around the body to wherever it is needed – which is just about everywhere. If you have a problem with your parietal cells, you won’t produce any intrinsic factor and then won’t be able to produce healthy red blood cells. People with pernicious anaemia either don’t produce the intrinsic factor at all, or – and nobody knows why this is – they produce intrinsic-factor antibodies that destroys the intrinsic factor they do produce.
You can, however, be at risk of B12 deficiency without having pernicious anaemia. One obvious group is vegans. However, most vegans are aware that they are at risk and take oral supplements to ensure that they get their source of B12 in an artificial form. But of course, if they have no intrinsic factor to ‘capture’ the B12, the supplements will be of no use. That is why people with pernicious anaemia have to have injections of B12 directly into their bloodstream.
Elderly people are at risk of developing gastric atrophy (this can also be caused by the gut pathogen Helicobacter pylori), which means the mucous lining of their stomach produce antibodies to both the intrinsic factor and parietal cells. And as the UK population becomes older, there is a case for routinely checking the B12 status of the elderly.
Long-term lack of B12 can also lead to the loss of the protective myelin sheath that surrounds nerves, which causes irreversible nerve damage. Sometimes that nerve damage leaves the patient unable to walk and with severe cognitive problems.
The symptoms of vitamin B12 deficiency
As you can see, B12 is a very important vitamin. It’s important therefore to recognise the early symptoms of deficiency and to be aware of the problems with these symptoms.
Firstly, symptoms don’t suddenly appear – they are insidious and ‘creep up’ on you and there are two consequences of this. The patient will make continual allowances and small adjustments to his or her life to accommodate the slowly emerging symptoms, and then these symptoms will often be attributed to advancing age or a busy modern lifestyle. The fact is that the first signs of B12 deficiency are often ignored – often for many years and sometimes with disastrous consequences. And don’t make the mistake of assuming this is only an adult problem – children and juveniles can and do suffer B12 deficiency due to pernicious anaemia.
Constant tiredness and continual fatigue are the most common symptoms experienced by members of the Pernicious Anaemia Society. The problem here is, as stated above, this tiredness and chronic fatigue can be attributed to a modern busy lifestyle. I know that I believed that the reason why I was continually tired was because I had turned 40 and I had such a busy life. I ignored these early symptoms and only reported to my doctor when my legs suddenly went numb and I had balance problems. The fatigue is more accurately described as ‘the strange tiredness’.
The second most common symptom experienced by members is ‘waking up tired’. Again this can easily be attributed to a hectic lifestyle and workplace pressures. Other common symptoms include dry skin, brittle nails with ridges and a swollen, ‘beefy’ or sore tongue (glossitis).
The most common neurological symptom is the rather vague ‘forgetfulness and memory loss’ followed by concentration problems, pins and needles (parathesia), clumsiness and lack of coordination, poor sleep and confusion (also known as handbag-in-the-fridge syndrome). One rather strange neurological symptom that is not generally associated with B12 deficiency is burning legs and feet caused by Grierson-Gopalan Syndrome, which occurs due to a deficiency of vitamin B.
There is one symptom that doctors do recognise as a reliable pointer towards the patient having B12 deficiency – shortage of breath, with the patient sighing frequently and taking deep breaths. This is why ‘the sighs’ are a much more accurate description than the long established and unspecific symptoms of ‘shortage of breath’ and ’difficulty breathing’. 100% of respondents to a recent survey had experienced ‘the sighs’.
There are other reliable indicative symptoms that patients with B12 deficiency experience. These appear to be not widely recognised among physicians as being indicators of deficiency – perhaps because either these early indicators have been lost in time and have generally stopped being included in medical text-books, or because until the Pernicious Anaemia Society identified these symptoms, there was no reason for patients or doctors to associate these symptoms as indicators of B12 deficiency.
In the early years of the nineteenth century, the Edinburgh physician James Scarth Combe described what would later become known as Addisonian anaemia and then pernicious anaemia. Dr Combe described a patient as having “excess urine and diarrhoea”. It might come as no surprise then that a majority of members of the Pernicious Anaemia Society experience “sudden and unaccountable diarrhoea”, some reporting that this was after a period of constipation. Considering that pernicious anaemia is caused by a malfunction in the digestive process that manifests itself as a blood disorder, these symptoms might be expected, yet I am not aware that this peculiar form of diarrhoea – described as unlike ‘normal’ diarrhoea but rather a particularly nasty form – is regarded as a strong indicator of vitamin B12 deficiency.
These are the symptoms that cause so much heartache, angst and misunderstanding. B12 deficiency – whether caused by pernicious anaemia or not – can lead to personality changes which can impact heavily on home and work life. These symptoms, more than any others, are not recognised widely by doctors or the patient’s family. They include irritability and frustration, sudden mood swings and impatience and the desire for isolation. More worryingly nearly a quarter of respondents to a recent survey (23.9%) had experienced suicidal thoughts as one of their symptoms.
There is a comprehensive Symptoms Checklist available on the homepage of the Pernicious Anaemia Society that is free to download – it’s part of the Society’s campaign to get these early indicators of B12 deficiency more widely known among patients and medical professionals.
Problems with diagnosing B12 deficiency
There are serious problems with diagnosing B12 deficiency. The Full Blood Count (FBC) that is routinely used by doctors to check the condition of a patient’s blood does not automatically include the test for B12 status. What the FBC will show is whether or not you have enlarged red blood cells (macrocytosis) which can be an indicator of low B12. However, What it does: Critical during pregnancy for the development of a baby’s brain and nerves. Also essential for brain and nerve function. Needed for utilising… will prevent your red blood cells from becoming enlarged and the doctor may not ask for further investigations. And anyway, not all people with low B12 will have enlarged red blood cells even if they have not been taking folic acid.
If your doctor suspects that you might be deficient in vitamin B12 he or she will usually ask for your B12 level to be checked as part of the FBC – but this doesn’t always happen and can and does lead to misdiagnosis.
Firstly, many clinicians believe that the lower threshold for determining B12 deficiency is far too low and some believe that it should be almost double what it is today. Secondly, doctors will often interpret the results of the blood test very strictly so that a person with some or all of the symptoms listed above, will not necessarily be diagnosed as being deficient if his or her test result is even just one or two points above the laboratory threshold. Patients in this ‘grey area’ are in a sort of no-mans-land and will only be treated if their serum B12 level falls below the laboratory threshold. (Different laboratories use different analytical machines and so will have different thresholds to determine B12 deficiency. The printout of the test will almost always state what the lower threshold for that particular machine is.)
Thirdly, the current test doesn’t distinguish between the two different types of B12. Active B12 or Holotranscobalamin II is B12 that is biologically active. The other type of B12 is Holohaptocorrin which is biologically inactive – it plays no part in the production of healthy red blood cells. Astonishingly some people can have up to 90% of their total B12 as the inactive form. The current serum B12 test measures only the total amount of B12 in the patient’s blood and makes no distinction between the two types and is considered by many to be a ‘late marker’ of B12 deficiency.
With the consequences of B12 deficiency being so serious, there needs to be a serious evaluation of how deficiency is diagnosed.
Problems with the treatment of B12 deficiency
A normal person will be able to address any B12 deficiency by taking oral supplements that can either be bought in high street shops or prescribed by their doctor. People with pernicious anaemia have to rely on getting the vitamin injected directly into their blood stream (although very high dosage tablets can work for some sufferers).
By far the most common complaint by people with pernicious anaemia is about the frequency of the normally prescribed treatment regime. Injections of B12 are only available on prescription in the UK, Australia and North America. In mainland Europe, they are available over the counter in pharmacies. Injections are usually, though not always, prescribed once every three months in the UK. This is hopelessly inadequate for a great many patients with pernicious anaemia, who often resort to buying injections from European pharmacies and injecting without the knowledge or consent of their doctor. Others buy from unregulated internet sources with the potential dangers being overlooked. Some receive massive doses of the vitamin via an intravenous drip from doctors working outside the NHS – just like many celebrities. Sadly, many patients who feel they need more frequent injections are refused these by their doctor and are instead prescribed anti-depressants.
There are other ways in which B12 supplementation can take place – even for those with pernicious anaemia – and these include nasal sprays, skin patches, sub-lingual tablets and drops and even ointment. The efficacy of these alternative treatment regimens has not been evaluated.
Preventing B12 deficiency is simple – taking a high dose tablet will usually be sufficient, although this won’t be the case if you have Pernicious Anaemia. If you think you have some of the symptoms of B12 deficiency, you should tell your doctor and ask specifically for your B12 levels to be established, even though there are serious problems with the current test. You should also consult with your doctor if you are contemplating any of the alternative treatments methods available.
Because of the vague symptoms and the problems with the way in which B12 is diagnosed, it is important that everyone is aware of the consequences of vitamin B12 deficiency. Supplements can help avoid people becoming deficient in this important vitamin. Patrick recommends that everyone take 10mcg a day as an optimal intake in a multivitamin. The RDA is just 1mcg. Provided you don’t have pernicious anaemia, taking cheap, extremely safe oral supplements should mean that you or your family will not suffer the disastrous consequences of long term B12 deficiency. And before you ask, no, you cannot overdose on B12.
About the author
Martyn Hooper is the founder of the Pernicious Anaemia Society, which he set up after having to take early retirement from teaching in further and higher education when he was eventually diagnosed as having the condition. Martyn waited so long for a diagnosis that he suffered permanent nerve damage to his spinal cord and is now registered as being Disabled. He is campaigning for the way in which Pernicious Anaemia is diagnosed and treated to be the subject of a thorough review. He has written a book about the problems faced by sufferers of Pernicious Anaemia and vitamin B12 deficiency, Pernicious Anaemia – The Forgotten Disease, available on Amazon.