Our guest blogger this month explores the important topic of diagnosis and treatment through patient experience. This is particularly relevant today as it is increasingly difficult to get face-to-face time with healthcare professionals and there is a growing level of knowledge and information available online. In a survey 41% of people in the UK reported self-diagnosing from information online and in the USA this increased to 61%-85%. A Harvard study stated that searching for health information online can be helpful. The study found that people got the diagnosis right about half the time before searching online, and improved the diagnosis slightly after going online — although internet information occasionally misled them. Searching online didn’t make them anxious or cause them to choose the wrong next step. However, doctors are naturally cautious about “Dr Google” and concerned that self-diagnosis and self-treatment based on internet findings could be hazardous to health. This is why a quality patient-doctor relationship is so important and why the lived experience of a patient with a lesser known condition should be a key feature in diagnosis and treatment of AIG/PA.
Martine Cotton BHSc
Health Science graduate and experienced Public Health Professional Dedicated to Person-Centered Care and Healthy Ageing.
Author (with Andrew McCaddon MD) of Examining the Diagnosis and Treatment Experiences of People Living With Autoimmune Gastritis and Pernicious Anemia.
If you’ve ever perused online support groups for pernicious anaemia (PA) and autoimmune gastritis (AIG), you’ve likely seen countless posts expressing frustration and confusion with the medical system. I personally experienced this disconnect when I was diagnosed with PA back in 2009. While my diagnosis itself went smoothly (I got lucky!), my long-term treatment journey was anything but. At the time, there was almost no information available online to help me navigate my condition. Luckily, things have changed in the past 15 years. The Pernicious Anaemia Society (PAS) facilitates an online support forum and dedicated Support Groups as well as one-to-one helpline support for their members. There also are numerous groups on social media where patients can connect and learn from each other.
Still, the patient journey remains a challenging one and I set about to provide academic evidence to raise awareness of the broad difficulties faced by those living with AIG/PA and bring about change. The paper was recently published in an open-access, peer-reviewed journal (The Journal of Patient Experience) – with support from Dr Andrew McCaddon, Martyn Hooper and the PAS – you can see it here. If anyone wants to read the more comprehensive original 8,000-word paper, I’d be happy to send it to you – just email the team at the PAS.
Our newly appointed CEO asked me to be part of this series of guest blogs to offer a summary of my research findings with you, I doubt it will surprise anyone living with AIG and PA. But first, it’s important to get a quick understanding of how AIG/PA evolves to explain why this is such a complex illness.
Autoimmune Gastritis is an autoimmune disease of the stomach that ultimately causes the stomach cell walls to shrivel and decay after the loss of the all-important components of stomach acid (parietal cells and intrinsic factor), triggering chronic malabsorption of several important vitamins – obviously B12, but also iron, vitamin D, calcium and vitamin C. Because AIG is so slow-moving, it remains asymptomatic for years until issues start to emerge with several seemingly unrelated symptoms arising from nutritional deficiencies, most notably B12. Chronic B12 deficiency results in significant harm; diagnostic delays can lead to irreversible complications.
The broad array of symptoms associated with AIG/PA typically complicates and delays diagnosis, with psychological (e.g., depression, memory loss, aggressiveness, paranoid delusions, psychosis and dementia), neurological (e.g., subacute combined degeneration of the spinal cord and impaired gait) and gastroenterological (stomach pain, bloating and gas, diarrhea) impairment on top of the fatigue and brain fog that typically accompanies megaloblastic anaemia (enlarged red blood cells that struggle to deliver oxygen where it’s needed, a hallmark sign of B12 deficiency).
There is also the emerging research identifying common clustering of ranges of autoimmune diseases in patients, making diagnosis even harder when some of the diseases have similar symptoms. Polyglandular syndrome type III means that more than 50% of AIG/PA patients have more than one other autoimmune disease and 13% have an additional two or more diseases, the most common being Autoimmune Thyroiditis, Diabetes Type 1, Addison’s disease and Vitiligo.
After reviewing the existing academic research that touched on PA/AIG patient journeys (you can see the references below), I examined the online AIG/PA support groups where I found nearly 77,000 people trying to find support and answers online.
Examining the two bodies of data, clear themes emerged concerning people living with AIG/PA. Overwhelmingly, significant knowledge gaps exist. These have a cascading effect starting with delayed diagnosis and poor treatment which impact quality of life, lead to stigmatization, poor patient/doctor relationships, and, worryingly, often to complete withdrawal from care seeking. Routine screening is commonly overlooked, and inconsistent testing protocols and guidelines contribute to delayed diagnosis (for example, there are currently more than 5 sets of UK guidelines on PA, all proffering different advice!). Finally, we see the emergence of the patient-expert as a veteran navigator of the troubled care pathways.
Six Common Themes Emerged
1. The Diagnosis Journey
The diagnosis journey was consistently described as “difficult”, with significant delays. Many online support group participants reported waiting years to receive a diagnosis. Participants commonly described the difficulties they encountered in finding a healthcare provider who was familiar with the conditions. They expressed concerns about the lack of knowledge among primary care physicians, the lack of routine screening and inconsistencies across testing protocols and diagnostic criteria.
In the academic research, one study found that 80% of participants experienced diagnostic delays of between 1 – 10 years while another found 65% of participants experienced delays of between 2-3 years, and 8% more than 10 years. In their findings, the researchers reported that medical staff commonly lacked awareness of the condition or how to diagnose.
Paralleling the academic research findings, many forum participants recounted their experiences of misdiagnosis and diagnostic delays. Many reported being misdiagnosed with conditions like chronic fatigue syndrome and fibromyalgia commonly mentioned.
One research group led by Lenti developed an AIG “red-flags” questionnaire incorporating 7 diagnostic features (neurological, gastrointestinal, hematological, cardiological, autoimmune, fertility, and family history) to help avoid such delays. They also identified affordable laboratory test scores to confirm AIG including parietal cell antibody, plasma MMA, and homocysteine. These collective scores, alongside gastric biopsies, are considered essential for diagnosis. Importantly, “normal” serum B12 and normal MMA alone do not exclude B12 malabsorption. Adopting a red-flags questionnaire would clearly promote early diagnosis.
2. Patient-Provider Relationships
Patient-provider relationships are impacted by inconsistent and inappropriate treatment, gender-bias, perceived stigma, and delegitimization of patient experiences. Across the literature and online forums, most participants expressed dissatisfaction with their medical care and described poor relationships with their doctors, resulting in a disengagement from healthcare. Many described symptoms that were frequently dismissed, trivialised or psychologised by health care providers, leaving them feeling misunderstood and unheard.
One research paper reported high levels of stigma and a delegitimisation of patient experiences. They found a perceived gender bias in patient provider relationships, with female patients being commonly told that their symptoms were stress-based psychosomatic or hormonal issues, and this was backed up in another paper which found that female patients experienced longer diagnostic delays and more misdiagnosis than males. Complaints concerning fragmented care and lack of patient-centred care were commonly expressed by online forum participants. Forum participants recounted experiences in which their healthcare providers did not know what their various symptoms indicated, or what PA and AIG were.
However, while trust of healthcare practitioners and fragmentation of services were critical issues identified across the literature and forums, not all patients felt unheard. Some described practitioners that engaged in patient-centred approaches that provided consistently positive outcomes.
Shared decision-making can result in happier patients, with improved health outcomes and quality of life.
3. Seeking Treatment
Suboptimal treatment is common. Issues range from clinicians’ lack of awareness and inconsistent management to frankly inappropriate treatment. Frustration and concern around the lack of patient-centred care and adherence to outdated guidelines were commonly reported by online forum participants. Similarly, forum participants commonly reported concerns around the lack of consistency in diagnosis and treatment.
One survey of 889 people found that 64% of patients reported suboptimal care, with 51% describing their care as poor or very poor. Across the literature a lack of a consistent approach to treatment was reported, including poor understanding by clinicians of the severity of symptom mismanagement outcomes like neuropsychological distress. Little is known or offered in terms of treatment for gastrointestinal and reflux issues, with practitioners commonly prescribing proton pump inhibitors (PPIs) to further inhibit stomach acid which only speeds up the decay of the stomach wall.
Current research indicates basic blood serum B12 biomarkers should not be considered without other essential markers, including holotranscobalamin II, MMA, homocysteine and patient symptoms and preferences. Forum participants commonly reported clinicians’ reliance on B12 biomarkers, which often led to treatment being cancelled, despite the presence of symptoms and despite evidence that, once PA is diagnosed, biomarkers become irrelevant. Continued testing is especially controversial when doctors discontinue treatment based on B12 laboratory ranges. This is a key source of negative practitioner-patient relationships.
Significant debate surrounds B12 dosage. Evidence indicates that symptoms significantly improved with daily/weekly injections rather than every 2 to 3 months. Indeed, there is no firm evidence for 3-monthly injections to treat PA. It is unclear why clinicians refuse additional supplementation or discourage self-treatment since B12 has no upper toxicity and few side-effects. The reliance of biomarkers over symptoms to guide treatment indicates a significant unmet need, likely resolvable using a more “patient-centred” approach. As was also identified in the James Lind Alliance Priority Setting Partnership with PAS, research is urgently needed to explore individual variance in B12 treatment requirements.
Equally controversial is the debate over oral supplements versus injections. A Cochrane Systematic Review found there is some evidence for oral B12 efficacy, although based on 2 small studies. While oral supplementation may restore blood abnormalities, other research and forum anecdotal reports suggest it is ineffective for many and injections are strongly recommended for those with neurological symptoms. Combined oral and parenteral supplementation often provides optimum symptom relief.
Researcher Wolffenbuttel et al identified and debunked 7 common myths associated with B12 treatment: (1) oral B12 equals or is better than parenteral to alleviate neurological symptoms; (2) once serum B12 is normalized treatment can be stopped; (3) elevated serum B12 requires treatment cessation; (4) more than 5 injections is harmful; (5) serum B12 should be tested after 3 injections to assess whether supplementation is working; (6) treatment should be stopped if symptoms worsen, and (7) treatment must stop during pregnancy. Correcting these myths would address many of the complaints in patient forums, indicating a need for improved education in the health care profession and standard consensus guidelines.
4. Quality of life
The majority of people living with AIG and PA experienced low “health-related quality of life” and psychological wellbeing compared to other gastrointestinal autoimmune groups such as celiac disease. Quality of life results were poor across the health-related quality of life domains: physical functioning, bodily pain, general health, vitality, social functioning, emotions and mental health. High levels of anxiety were commonly reported as people tried to come to terms with their condition and expressed concerns about their prognosis.
Feeling stigmatised was commonly described across both the literature and in the individual stories from the forums. Stigma was perceived across all three of the main quality of life domains of health, work and family. Many described the stigma they experienced within their family domain.
Cognitive deficits and psychological disturbances caused by the neurological manifestations of B12 deficiency were a common source of distress reported across the literature and online forums. Many people expressed concerns around managing work with the levels of physical and mental fatigue brought about from stress and ill health. One online forum explained that just preparing for and completing an employment interview left her depleted and concerned for her future.
Across the literature there were also few mentions of the implications of broader nutrient malabsorption. Deficiencies in folate, iron, vitamin C, calcium, and vitamin D are commonly associated with AIG/PA, leading to various neurological, blood, and skeletal issues that directly impact Health Related Quality Of Life (HRQOL).
Research found that an understanding of their condition positively enhances people’s HRQOL. Other papers observed that higher levels of B12 supplementation provided a direct improvement in the physical functioning domain, which they suggested may help overcome individual’s perceptions of poor function and help them recover some confidence in their ability to function well.
5. Patient Disempowerment
Patient forums provided additional data not identified in the literature. Lack of awareness in healthcare about AIG/PA had a cascading effect for patients who, like their doctors, did not fully understand their condition, its associated complications and its management. Across the forums, misinformation was commonly discussed. Patients often failed to realize how broad disease symptoms could be, or alternatively assumed that all ill health was caused by AIG/PA. Poor patient-provider relationships and HRQOL compounded fear, uncertainty, and disengagement from healthcare. One forum participant described feeling dismissed by a clinician who disregarded their understanding of B12.
Forum participants described benefits from self-administering B12 in response to symptom recurrence, but also reported a lack of approval and support from healthcare providers, creating self-doubt and concern.
Poor insight into their condition resulted in many forum members expressing concern for their long-term prognosis, particularly around the association between AIG and stomach cancer. A poor understanding of micronutrient deficiency was also widespread. People living with AIG/PA commonly perceived stigma around the practitioner-patient relationship with the perception that practitioners may lose patience when patients constantly present with new symptoms.
6. The Expert Patient
At the far end of the AIG/PA disempowerment spectrum sit the patient experts and community leaders. The patient expert is usually a veteran of the AIG/PA journey, who has studied the literature extensively and shares anecdotes and learnings for others’ benefit. Given the widespread lack of awareness of AIG/PA they become important leaders; people consult them for advice rather than seek medical help. Patient experts help newer members with improved health literacy and self-efficacy by pushing them to educate themselves and their doctors about AIG/PA. Using such experts as “consumer engagement consultants” in the development of patient-centered guidelines might provide experiential input often missed by researchers and clinicians.
This study is the first to examine empirical evidence on the lived experience of people with AIG/PA and the accounts of those engaging in online AIG/PA patient forums. It provides insight into the challenging journey such patients experience. Interventions to prevent diagnostic delays and improve clinical awareness should be urgently addressed through the establishment of standard consensus guidelines and education. The implementation of a “red-flags” questionnaire by primary health practitioners might assist early diagnosis and improve health outcomes. The reliance of biomarkers rather than symptoms to manage treatment is a significant unmet need, possibly resolvable by a “patient-centered” approach to AIG/PA. Interventions that provide patients with an improved understanding of their illness may also significantly improve psychological health outcomes. Using the experiences of AIG/PA expert patients as consumer engagement consultants might also prove beneficial. Without better awareness and understanding of this condition, improved patient HRQOL support and a patient-centered approach, disengagement from health systems will likely continue.