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.