Patient-Reported Characteristics of Pernicious Anaemia: A first step to initiate James Lind Alliance Priority Setting Partnership Driven Research

ObjectivePernicious anaemia (PA) is characterised by vitamin B12 deficiency due to autoimmune-mediated loss of gastric parietal cells and intrinsic factor. The Pernicious Anaemia Society (PAS) identified 10 research priorities for PA through a James-Lind Alliance Priority Setting Partnership (JLA-PSP). This study aimed to survey PAS members to identify and characterise a cohort of patients to form a PA research repository. MethodsAn online survey was designed using SurveyMonkey, comprising 21 questions on diagnosis, comorbidities, family history, and management. The survey was sent to 3,482 PAS members (April-September 2022) via the PAS website and email. ResultsA total of 1,191 PAS members completed the survey. Among individuals with a probable (n=471) or suspected PA (n=500) diagnosis, 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% waiting [≥]3 years for a diagnosis. Nearly half had one or more other autoimmune diseases. One-third reported having at least 2 and up to 7 family members with PA or other autoimmune diseases. Vitamin B12 treatment frequency varied widely, ranging from daily to 3-monthly injections. ConclusionThis study highlights gaps in current diagnostic and management approaches for PA, paving the way for future work in line with the JLA-PSP research priorities. By characterising a cohort of PA patients and compiling baseline data, we provide a foundation for research to develop more effective diagnostic and management strategies.