This month’s guest blogger is Alfie Thain, a graduate in Nutrition and Dietetics and postgraduate research student in the School of Biosciences, Faculty of Health and Medical Sciences at the University of Surrey. Alongside Dr. Kourosh Ahmadi and Dr. Kathryn Hart at Surrey University, Alfie’s research is looking specifically at Pernicious Anaemia, a lifelong complex autoimmune condition which results in vitamin B12 deficiency. Alfie works closely with the team at PAS and his enthusiasm for learning and understanding about the condition, his diligence in running ongoing research projects, most recently on tracking symptoms and on familial links, is invaluable to the work the Society does. Recently, many conversations have come to the attention of PAS where health care professionals dismiss Pernicious Anaemia, try to remove it as a diagnosis, and have removed it as a coding from medical records. Notably NICE, in drafting the new guideline on B12 deficiency, completely removed all reference to Pernicious Anaemia, calling it autoimmune gastritis which is not the same condition. As a result our CEO asked Alfie to think about whether Pernicious Anaemia needed ‘re-naming’ or ‘re-branding’ as the topic of this month’s guest blogs. We’d love to hear your thoughts too in the comments.
In the complex landscape of medical terminology, certain conditions bear names that, over time, may seem unrelated to their actual presentation. One such case is ‘Pernicious Anaemia’, a name which we now know is somewhat misleading.
Where did the name Pernicious Anaemia come from?
The term ‘Pernicious Anaemia’ is a misnomer, as the condition is no longer solely represented by a pernicious state nor does it primarily appear as anaemia. However, the historical origin of the term dates back to 1871 when Anton Biermer first used it to describe 15 cases of fatal anaemia due to their untreatable nature and insidious progression (as this was prior to the discovery of effective treatments). Nowadays, anaemia is observed in only a minority of PA cases (approximately 15-20%), while the main presentation of the condition (in 80-85% of new cases) is neurological and cognitive.
The condition ‘Pernicious Anaemia’ now seems vastly different from what Biermer described, highlighting a need to re-evaluate its name to better reflect its presentation.
In fact, what Biermer described as Pernicious Anaemia is rather a consequence of severe B12 deficiency rather than an independent condition, although it continues to be defined as such.
Pernicious Anaemia: other names
Adding to the complexity, the condition known most commonly as pernicious anaemia is also referred to by several other names, such as Vitamin B12 Deficiency Anaemia, Biermer’s Anaemia, Addison’s Anaemia, and Addison-Biermer Anaemia. These various names are used across different clinical practices and research articles, leading to potential confusion among those unfamiliar with the condition’s history or the diversity of its nomenclature. Moreover, preference given to a particular name over others in different countries further highlights the inconsistency in practice when faced with the condition. This extends the challenge beyond merely selecting a new name; it emphasises the need for a term that facilitates developing a global consensus on diagnosing and managing the condition.
So what should we call it?
When considering a name change for Pernicious Anaemia, it’s essential to select a term that accurately represents the true nature of the condition. This condition primarily arises from an autoimmune attack directed at either the lining of the stomach, where the intrinsic factor — a crucial factor for B12 absorption — is produced, or directly at the intrinsic factor itself. Such actions result in a dysfunctional or deficiency of intrinsic factor, pinpointing the core issue in PA. The impairment of this pathway can result from a variety of causes. These include the presence of autoantibodies targeting parietal cells, or the intrinsic factor, attacks on the intrinsic factor receptor in the gastrointestinal tract, or a decrease in gastric acid production. Each of these factors disrupts the process of vitamin B12 absorption via the intrinsic factor pathway. Therefore, should a name change be considered, it should emphasise the disruption in the intrinsic factor absorption pathway, offering a clearer understanding of the condition’s underlying central mechanism.
The pros and cons of a name change
Before deciding on what the new name should be, the pros and cons of any name change should be considered. Whilst it may be scientifically sound the likely impact on patient diagnosis and management should be assessed. The potential advantages of a name change give an opportunity to align with the current rather than a historical understanding of the disease. Clinicians might be prompted to consider a broader spectrum of symptoms leading to improvements in rates of diagnosis, elimination of the extensive diagnostic delays that we see in this condition and improved management by prompting a more personalised approach based on the symptomology involved. The misconceptions about Pernicious Anaemia often lead to mis and/or underdiagnosis, with a focus on anaemia at the expense of actual symptoms. If the estimated proportion of people presenting with anaemia is 20%, clinicians could be overlooking up to 80% of true PA patients. Thus, renaming the condition could help address this issue.
However, we shouldn’t assume that a name change alone will suffice. It will have a positive effect but only as part of a strategy that will involve dissemination and outreach to patients, carers and physicians, education to increase knowledge and familiarity of the condition, and clear guidelines based on continued research to close gaps in knowledge. Dissemination and outreach of any name change would require substantial effort, which might be better spent on educating clinicians about the evolving nature of PA. The shift towards a more accurate representation could dispel misconceptions and aid in a better understanding among both clinicians and patients. Expanding efforts to educate clinicians about the condition’s nuances may be a more practical and impactful approach than a name change alone. Additionally, the records of people already with a diagnosis of Pernicious Anaemia and how that will be dealt with need to be thought through and executed clearly.
In the event of a decision to change the name without an accurate dissemination strategy, there is a risk that an individual who has lived with the condition for decades might perceive a sense of neglect and confusion. Conversely, the PA community is diverse and many individuals actively engage with literature about their condition, and so are well-informed as to the problems with the current name. For these individuals, a name change might represent a welcome shift, a reassurance that the name now aligns more closely with the lived experience of their lifelong condition.
It should be recognised that this is not the only condition with an inaccurate name. Take, for example, systematic lupus erythematosus – a name suggestive of a condition that causes redness of the skin but which, in reality, affects the entire body, including joints, brain, lungs, and kidneys. Therefore, in the case of Pernicious Anaemia, perhaps the name could be kept, and efforts should be made to improve clinicians’ understanding of the diagnosis and management of the condition. Any discussions regarding the name of pernicious anaemia should prioritise the perspectives of those most connected with the condition. This includes service users and individuals living with the condition ensuring they are central to conversations about potential changes to how their condition is referred to.
How about a reclassification for improved diagnosis and management?
In collaboration between the University of Surrey and PAS, our research team is currently exploring the idea that Pernicious Anaemia can be categorised into different sub-types. This is inspired by the classification system used in diabetes, which differentiates between Type 1 and Type 2 diabetes based on the presence of autoantibodies and blood glucose regulation issues, respectively. Furthermore, a third subgroup known as Latent Autoimmune Diabetes in Adults (LADA) has emerged, characterised by specific antibodies but manifesting symptoms similar to Type 2 diabetes and presenting with both type 1 and type 2 characteristics. As a result, this has been termed by some as ‘Type 1.5 diabetes’. Moreover, the spectrum of diabetes extends to maturity onset diabetes and neonatal diabetes, highlighting the importance of the age-of-onset of the disease adding another layer of complexity. A recent study proposed a further refined classification for diabetes, with the aim of enhancing personalised care and highlighting those at higher risk of complications by focusing on distinct variables such as antibody types and age of onset. This innovative approach emphasises the potential to develop more precise and personalised strategies for better disease management by using the underlying mechanisms and presentation of the disease, in this case, diabetes, to group sufferers into different clusters and to subsequently treat them based on those variables, a concept now referred to as a precision medicine which we believe could transform and vastly improve the management of PA.
By dissecting PA into specific sub-types based on factors such as age of onset, presence of anaemia, presence/absence of auto-antibodies directed at PC’s or IF, symptomology, such as neurological involvement, could pave the way for more effective, personalised management strategies, which acknowledge the diversity of PA. We already know that PA can manifest in two distinct forms: familial and sporadic. Familial PA occurs when other family members also have the condition, while sporadic PA occurs when you are the only one in your family affected and there is no family history of the condition. Beyond these categorisations, the clinical presentations of PA vary significantly. Neurological symptoms may be prominent in certain cases, whereas others remain asymptomatic or present with other types of symptoms. We know that some individuals with PA also have other autoimmune diseases and, in some cases, multiple autoimmune conditions alongside PA, while others may only have PA or have not yet developed any other autoimmune diseases.
This complexity in clinical presentations raises a crucial question: How can a one-size-fits-all treatment approach be applied to a condition that has such a diverse presentation? The answer lies in recognising the unique aspects of each patient’s condition, highlighting the need for personalised treatment strategies.
Our ongoing research aims to map out the complex landscape of PA, hoping to design and deliver more tailored management strategies that reflect the individual needs of those affected. Through this effort, we seek not just to redefine PA but also to transform its current treatment model.
After much consideration and reflection on the matter, my stance is that for the time being, a name change for pernicious anaemia is not necessary, nor should it be the priority. Instead, the focus should be on enhancing educational resources for clinicians. This includes integrating comprehensive information on pernicious anaemia into medical curricula, developing and disseminating clear clinical guidelines, and organising educational seminars aimed at updating clinicians on the latest findings and misconceptions about PA. Moreover, securing funding for critical research to unravel the many unknowns. By prioritising these areas, we can improve the diagnosis and the effectiveness of management for this condition. I am convinced that these efforts will produce a far greater impact on patient care and outcomes than a change of name could achieve.
In conclusion, the debate over a name change for Pernicious Anaemia is multifaceted. It requires a delicate balance between acknowledging the historical context that led to the discovery of the disease, addressing the evolving nature of the condition, and considering the pros and cons of doing so taking into account the emotional and practical implications for patients, carers and clinicians. As we build on this discussion, an inclusive approach encompassing education, awareness, and potential reclassification may pave the way for a more accurate representation of this complex and often misunderstood condition.
I agree with your comments about the complexities and multi-faceted presentations of the illness and that diabetes offers a useful model as to how PA can be thought about and treated, not least the use of pre-loaded pens.
One more detailed note: I do not have a deficit of iron. My haemaglobin levels are acceptable. But I do have hypoferritinaemia without anaemia, an inadequately recognised and highly impactful condition that has the same effect as anaemia. I have no peripheral neuropathy.
Totally agree with the previous Comments.
I had terrible issues getting a diagnosis as the GP I visited “didn’t believe this B12 myth”!
After many similar comments and not getting any better I saw one of the practice senior partners and he had a good look through all the test results and symptoms and how B12 EOD injections were making me feel somewhat better.
On looking at my haematology reports I had very large red cells and not many of them. Megablastic Anemia was his best guess from this and he enabled me to continue in EOD injections which my husband gives me.
Without them for even an extra day I feel so utterly fatigued and can’t function.
Thank goodness I found a doctor prepared to have an open mind and see what was happening….
My B12 levels are off the scale but that’s where they need to be for me to function. We believe this is a metabolic issue and nothing to do with absorption….
Time for change in doctors traing and knowledge but there is a great bigotry out there.
They need to change ranges of B12 as they are so inaccurate the blood tests especially for those who already have an autoimmune disease. They already know in research 15-20% who have autoimmune thyroid are likely to have PA. I for one had all the symptoms, I had told the GP I was taking 20.000 up of methyl-b12 and I didn’t feel any better on it, the answer was it probably wasn’t PA then.
My father had PA but even though I had most symptoms, I was refused B12 injection for over 3 years and the gp did test IFA but not PCA so was negative and b12 was 700 but I was taking high dose methylb12 and not taken into consideration that I may not be absorbing it. I found a GP who believed in me and gave me a trial and after a while my symptoms disappeared, thank god he helped me or would still not be able to drive at night and walk straight many things that corrected, I had graves when I was younger. I have since seen a haematologist who discovered I had high PCA and he told gp to look out for PA in the future, he didn’t listen to me as told him I was on b12 injections every 4 days, 1 per month supplied by nhs the rest self funded. I still do not have that diagnosis on my records, so my one shot per month could be at risk. They either need to bring the schilling test back or invent a test that’s accurate or drs need educating on symptoms. I bet more than 20% with Thyroid autoimmune is more like 70% but just never tested for it and as we all know all the tests are inaccurate.
I often wonder how my father got diagnosed with PA, I bet they took his symptoms into consideration as they certainly never mine. How did this become a forgotten disease when it’s so deliberating to people who suffer with it. I know for a fact a GP went on a B12 course and they were not taught even what tests to do for B12 it’s all gone backwards not forwards. My guess is Pharma can not make money on B12 that’s why they are not taught much about it. They haven’t invented anything new for it so instead of helping us who get it they teach the Drs to just treat the symptoms as with most things.
I feel Pharma are rotten to the core and if they don’t earn they don’t care. So unless Pharma are willing to train all drs on this I fear we will all suffer in the future.
A large uptick for your post. Thank you. I concur, especially with the big pharma comment.
I’ve had pa for now over 3 years .that was diagnosed not syptoms. Doctor told me this but over cos I asked ..told me auto immune. Told me itsxattacks my organ so have to lose weight vos of risks of diabetes. But had call phone appointment snd cos I asked for neurology referral. Doc had the bare face cheek thst I fidnt have p.a .but over 12 months ago she read my bloods wrong took me off folic acid ..10 months later I fell so ill.had bloods done. Emergency higher foc phoned me that icwas so anemic my iron levels were on floor never should of taken mevoff folic acid .in call few days ago my doc told me I couldn’t hsve p.a as I want anemic .for few days I’ve been so upset ..I’ve written all facts down..and I will tell her if need be next week .
A recognition of the real symptoms of B12 deficiency and the effect these can have on lives could be the place to start. It might put an end to the trivialising evident in GP’s responses following any new article or research paper on the subject. We certainly, and often quite obviously, aren’t just tired.
“Familial / sporadic” would rely on an ability to have accurately diagnosed PA in previous family members. Perhaps evidence of autoimmune conditions within a family might be a more useful pointer. Lines of division could be blurred here, when a single IFab test result (if a diagnosis is even sought) being commonly used to eliminate PA as a diagnosis.
Without these basics in place, it seems pointless to name-change. I don’t think more divisions are going to do anything other than prove divisive. And that is the last thing we need, since all we have is each other.
Thank you for the thoughts on name change for Penicious Anemia. Re-allognmets in name or subnames are necessary for speedy diagnosis and correct management.
It took three years for me to get conclusive diagnosis after switching between three physicians. It was now affecting my heart beat, eye sight, looss of balance, memory, concentration, arms, hands, legs, feet and a feeling of a sollen face.
Unfortunately the brand of B12 injection I started with would make the symptoms worse for two weeks after injection then one week of stability and relapse again in the fourth week. It would take another one year to discover that it I was reacting to type a brand of B12 that I was using. I literally had one week per month where I was nearly sane thus 12 weeks in a full year. It was by coincidence that I found a different manufacturer’s product at the pharmacy and to my surprise I would get much better in 24hrs after the injection. Symptoms would start crawling back generally one week before the next injection.
I take iron tablets when I feel low circulation og blood and also take over the vounter asprin tablets when I feel some unusual headache and irregular heat beat and feeling weak. This has kept me going with a little speaceful sleep. These are self diagnos and not from the Doctor.
Thank you for keeping us updated
I have late onset type 1 diabetes, hypothyroidism, vitiligo, palmar erythema and pernicious anaemia with recurrent iron deficiency anaemia. It is difficult to know which symptoms apply to pernicious anaemia. I believe that having open heart surgery for patent ductus at age 18 months may have caused a weakness in my immune system. I keep active despite arthritis, but believe that I have a strong constitution so manage this condition fairly well. I would be interested to know how common it is to have multiple conditions related to
It is said that the word “pernicious” (which means fatal, deadly) is no longer appropriate to what I have had for fifty-two years.
However when I was diagnosed in 1972 my doctor asked me whether I wanted the “bad news” or the “good news”.
In the “Zombie” state I was in 13 years after gastric surgery at the age of 17 I pessimistically asked for the “bad news”
She told me that the “bad news” was that I was going to die, and I was going to die within two years.
Somewhat shocked I asked whatever the “good news” was?
She said that I was not going to die if, a) I ate raw liver three times a day or, b) have B12 injections every four weeks for the rest of my life.
I opted for the injections and I’m still “clivealive” at the age of 82.
Had I not wisely chosen the treatment the “pernicious” element would have been validated – fatal, deadly.
So whether the symptoms are caused by P.A or A.G – without correct diagnosis and treatment the outcome will be “bad news” for the patient.
CliveAlive, your review inspires hope indeed!
Clever way for your doctor way back when to tell you the ‘good’ vs ‘bad; news. Interesting to note however how the doctor 50 years ago knew at least enough about PA to note that without adequate and lifelong treatment it would lead to a breakdown of tissues, organ ( and I believe proper oxygenation of the blood) which ends in ultimate demise. I would imagine the 2- year propsal was mere speculation however. Take it you are opting for the b12 injections over the liver regimen. My grandmother chose the liver but detested it and only made it to late 60s in age unfortunately. Wish she had chosen injections but it still was not common knowledge at the time, perhaps you got lucky?
Anyway thanks for piping, in got alot out of it hope others do too! Stay with us Clive!
Of course, like many I long struggled for a diagnosis and, in fact, got one (after 31 years!) only due to my chancing to see a T.V. program on pernicious anemia and then demanding that, for a change, my physician test me CORRECTLY for P.A., to wit, an intrinsic-factor antibody test, which came back through the roof!
But then, the new challenge: Of roughly 60 doctors and health practitioners with whom I have spoken, ONLY ONE accurately understood P.A., to mean that it also causes gastritis. There are many reasons behind this unforgiveable (in medical practitioners) ignorance, but one of them is the name, and we should work to change the name.
I have, literally, had doctors say, “Well, if you have B-12 anemia, take B-12,” with the unspoken part of that sentence seeming to be, “and stop wasting my time.” I firmly believe this illness needs to be renamed something like “auto-immune or B-12-driven degenerative digestive disease,” with it important to remember, it absolutely is DEGENERATIVE, especially in people long undiagnosed. With B-12 or not, my gastritis continues to worsen and that as I face medical practitioners who are worse than useless, because (in their ignorance) they then, quite literally, say, “Well, I can’t believe pernicious anemia would make you this sick.”
I read with interest the comments . However, having been haphazardly treated for B12 deficiency and consistently told I was depressed due to always going back to my Dr. complaining of tiredness I was in 2015 given diagnosis of PA and it was agreed that I could have injection every 12 weeks.
I showed my GP what it stated in the BMJ and also spoke about what course of action was required…..On my notes my GP put that I had become hysterical….(How I was demonstrating this I don’t know!)
10 yrs on I now get B12 injection every 10 weeks. I have significant weakness on my left side, with numbness to hands my memory is quite often so poor its scary and often The Brain Fog and Tiredness are difficult to cope with !!! Like I kept saying to my G.P. No I am not depressed I am Tired and very frustrated about the way my medical condition has been managed. I sincerely hope anyone out there battling to feel better will get the understanding and help needed. Best Wishes to you all.
An additional thought from one with both P.A. (31 years undiagnosed, thanks in part to it’s WRONG NAME) and years in marketing and journalism. To have an illness with a name from two centuries back, a name that does not even remotely DESCRIBE the illness and to say you’re going to “study” it more, is both absurd and callous! People are suffering.
People (a voice of experience) are suffering from this horrible illness and are often being made worse by counter-indicated medications, like proton-pump inhibitors (in the broken U.S. medical system every gastroenterologist’s “answer” to everything.) So, please, no, no more studying! And, please, please, GET THE MEDIA INVOLVED! That there is a deadly illness where people go undiagnosed for decades due to misconceptions, medical failure or ineptness or whatever, is a story deserving of major news headlines, and take this old journalist’s word for it, a few news headlines, an aware public and medical practitioners all over the U.K. (and hopefully the U.S.) will begin to take notice!
Consider this important advice from marketing. If someone were starting a bioresearch firm, they’d hardly name it, for example, “Winston’s Candy Manufacturers,” yet this is more or less exactly where we are with P.A. THE NAME MUST BOTH EDUCATE AND DESCRIBE (in general terms) THE ILLESS, that’s just common sense and good marketing! And let’s leave the ponderous nuances about the illness to practitioners and researchers, when our focus must be the general public and PRACTICING MEDICAL PERSONNEL who, rightly or wrongly, are out in the real world and not necessarily paying attention to what’s in learning institutions.
That I, quite literally (after I figured out my illness) went to a hematologist who didn’t even remotely know what P.A. is (and therefore tried to argue that my intrinsic-factor antibody test was wrong) is telling that we in the P.A. community must bet down to BASIC EDUCATION and that begins with an accurate name, if nothing other than Intrinsic Factor Antibody Autoimmune Syndrome! (Sorry for the passion, but I just spent most of the night up as a result of a high pollen count and allergic gastritis!)
I have has pernicious anemia since my twenties, I suffered from extreme tiredness, depression, irritable bowel, pins and needles and mouth ulcers for years and was always told stress was the cause. My Dad became ill and subsequently I moved home where I registered with a new doctor. He asked my Dad’s diagnosis which initial was PA, (but unfortunately was also Prostrate cancer)
My new doctor had me tested and my health changed for the better.
I still have spells of overwhelming tiredness – sometimes having to pull in to a lay-by for a sleep when driving even short journeys, sneaking off for power naps, as well as poor memory and brain fogging.
I would like to ask others what supplements they take and what quantity when they have their B12 injection?
I was not aware that supplements might help with B12 intake until I delved into google with this latest bad spell.
Looking forward to hearing your replies.
Thanks
Sindy