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Care"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Pernicious anaemia (PA) is characterised by vitamin B\n                      <jats:sub>12<\/jats:sub>\n                      deficiency due to autoimmune-mediated loss of gastric parietal cells and intrinsic factor - a specific transporter for B\n                      <jats:sub>12<\/jats:sub>\n                      \u2019s 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.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 1,191 PAS members completed the survey. Of those individuals with a probable (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009471) or suspected PA (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009500) diagnosis defined by higher specificity diagnostics 84% were UK-based and 81% were female, with an age-range of 23\u201393 years. Diagnosis was predominantly based on low serum B\n                      <jats:sub>12<\/jats:sub>\n                      (50%), positive intrinsic factor (38%), and\/or parietal cell autoantibodies (15%). Diagnostic delays were common with 37% of participants reported waiting\u2009\u2265\u20093 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 B\n                      <jats:sub>12<\/jats:sub>\n                      treatment frequency was highly varied, ranging from daily to 3 monthly B\n                      <jats:sub>12<\/jats:sub>\n                      injections, with 52% of participants taking injections outside of the recommended guidelines.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study\u2019s 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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12875-025-03036-0","type":"journal-article","created":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T13:14:35Z","timestamp":1762521275000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Patient-reported characteristics of pernicious anaemia: a first step to initiate James Lind Alliance Priority Setting Partnership driven research"],"prefix":"10.1186","volume":"26","author":[{"given":"Alfie","family":"Thain","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Visser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Hart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebba","family":"Nexo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"McCaddon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciana","family":"Hannibal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce HR","family":"Wolffenbuttel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine Heidi","family":"Seage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina","family":"Burchell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kourosh R.","family":"Ahmadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,11,7]]},"reference":[{"issue":"5316","key":"3036_CR1","doi-asserted-by":"publisher","first-page":"1347","DOI":"10.1136\/bmj.2.5316.1347","volume":"2","author":"KB Taylor","year":"1962","unstructured":"Taylor KB, Roitt IM, Doniach D, Couchman KG, Shapland C. 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It was determined that the study did not require a full ethical review and was exempt from this requirement. This study was conducted using data collected by the PAS through an online survey conducted in 2022. Members were informed about the purpose of the survey, and by continuing to complete the survey, they were offered the opportunity to provide consent (yes\/no) and to be contacted to participate in future research and for their data to be used for purposes of research into PA. The PAS membership forms included a statement on confidentiality to ensure that the collected data could be used for research purposes. From 2023, completion of the online survey is now routine as part of the baseline PAS membership application process.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"348"}}