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.