Valuing Lived Experience: Building the Evidence for Better Care in Pernicious Anaemia

Many people with pernicious anaemia spend years searching for answers. By capturing lived experiences, this study transforms patient-reported data into evidence that can drive change in the recognition and treatment of the condition.
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BioMed Central
BioMed Central BioMed Central

Patient-reported characteristics of pernicious anaemia: a first step to initiate James Lind Alliance Priority Setting Partnership driven research - BMC Primary Care

Background Pernicious anaemia (PA) is characterised by vitamin B12 deficiency due to autoimmune-mediated loss of gastric parietal cells and intrinsic factor - a specific transporter for B12’s intestinal uptake. The Pernicious Anaemia Society (PAS) is a patient-driven charity that recently identified 10 research priorities for improved diagnosis and management of PA through a James Lind Alliance Priority Setting Partnership. To facilitate research addressing these priorities, the aim of this study was to survey PAS members to identify and characterise a cohort of patients to form a PA research repository. Methods An online survey was designed using SurveyMonkey (SurveyMonkey Inc., San Mateo, CA, USA). It comprised twenty-one questions collecting data on demographics, mode and timing of PA diagnosis, comorbidities, family history of PA or other autoimmune conditions, and type and regime of management. The survey was sent to 3,482 PAS members (April - September 2022) via the PAS website, newsletter, and email. Results A total of 1,191 PAS members completed the survey. Of those individuals with a probable (n = 471) or suspected PA (n = 500) diagnosis defined by higher specificity diagnostics 84% were UK-based and 81% were female, with an age-range of 23–93 years. Diagnosis was predominantly based on low serum B12 (50%), positive intrinsic factor (38%), and/or parietal cell autoantibodies (15%). Diagnostic delays were common with 37% of participants reported waiting ≥ 3 years for a diagnosis. Nearly half of the participants suffered from one or more other autoimmune diseases. One-third also reported having at least 2 and up to 7 family members with PA or other autoimmune diseases. Vitamin B12 treatment frequency was highly varied, ranging from daily to 3 monthly B12 injections, with 52% of participants taking injections outside of the recommended guidelines. Conclusion This study’s findings further highlight the gaps in current diagnostic and management approaches for PA and pave the way forward for future work in accordance with the JLA-PSP research priorities. By characterising a cohort of PA patients and compiling essential baseline data, we provide a foundation for research that supports the development of more effective diagnostic and management strategies.

The story behind the research

Pernicious anaemia (PA) is a lifelong autoimmune disease leading to severe B12 deficiency. Despite being manageable with regular treatment, it often remains under-recognised and inconsistently managed in clinical practice. This led to the James Lind Alliance Priority Setting Partnership uniting patients, carers, and clinicians to identify the most urgent unanswered questions. At the top of the list were how to improve diagnosis, to understand why symptoms often persist despite treatment, and to explore individual treatment needs.

Working in partnership with the Pernicious Anaemia Society (PAS) and the University of Surrey, and in collaboration with national and international experts, we aimed to turn lived experience into research. Using insights shared by people with PA through PAS, we co-designed a large-scale survey to capture real-world patterns in diagnosis, testing, treatment, and co-existing conditions.

Through PAS, hundreds of people had already described years of unexplained symptoms, repeated misdiagnoses, and ongoing struggles even after diagnosis, as symptoms returned between injections and treatment differed from one practice to the next.

Key findings

  • Diagnosis is delayed. More than one in three people waited at least three years to receive a diagnosis, and one in four waited five years or longer.
  • Testing was inconsistent. Only 38% had ever been tested for the key biomarker intrinsic factor antibodies.
  • Treatment is variable. Just over half reported a need for more frequent injections than the recommended injections 2-3 monthly schedule (as stated in the British National Formulary), supporting that the “one-size-fits-all” is not appropriate
  • Comorbidities were common. About one-third had another autoimmune disease, such as autoimmune thyroid disease or vitiligo. Around 40% also reported iron deficiency.
  • Family patterns emerged. Nearly one-third had at least one other family member with PA, and nearly 50% had family members with another autoimmune condition.

These findings highlight that PA presents in diverse ways and cannot be managed through a single diagnostic or treatment pathways.

Why does it matter?

For clinicians, our findings highlight the need to revisit how PA is diagnosed and managed. Early recognition, appropriate testing, and flexible treatment intervals could make a real difference to patient wellbeing.

For people living with PA, the study validates lived experience. It confirms that delayed diagnosis and fluctuating symptoms are not isolated cases, but rather systemic challenges. It also highlights the need for improved life-long therapy and management protocols.

For researchers, the dataset provides a foundation for future research, supporting studies on genetics, multi-morbidity, and studies on symptom trajectories that can help move towards more precision medicine-based care.

This study also shows the power of partnership between researchers and people with lived experience, whose insights shaped every stage of the project, from survey design to interpretation of the results.

What comes next...

This study represents the first step in a wider research programme shaped by the James Lind Alliance priorities. Ongoing projects are now exploring better ways to monitor symptoms using smart-watch technology and developing more precise, holistic and diverse treatment, management and follow-up approaches for people with pernicious anaemia.

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