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

## TL;DR

This study surveyed patients with pernicious anemia to better understand their experiences and identify research priorities for improving diagnosis and treatment.

## Contribution

The study created a patient-reported research repository to support James Lind Alliance-driven research on pernicious anemia.

## Key findings

- Most participants were UK-based, female, and experienced long diagnostic delays.
- Many patients had other autoimmune diseases and family histories of autoimmune conditions.
- Vitamin B12 treatment varied widely, with many patients not following recommended guidelines.

## Abstract

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.

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.

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.

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 online version contains supplementary material available at 10.1186/s12875-025-03036-0.