| Title: |
Prevalence and demographics of 331 rare diseases and associated COVID-19-related mortality among 58 million individuals: a nationwide retrospective observational study |
| Authors: |
Thygesen, JH; Zhang, H; Issa, H; Wu, J; Hama, T; Phiho-Gomes, A-C; Groza, T; Khalid, S; Lumbers, TR; Hocaoglu, M; Khunti, K; Priedon, R; Banerjee, A; Pontikos, N; Tomlinson, C; Torralbo, A; Taylor, P; Sudlow, C; Denaxas, S; Hemingway, H; Wu, H |
| Contributors: |
Consortium, CVD-COVID-UK/COVID-IMPACT |
| Publisher Information: |
Elsevier |
| Publication Year: |
2025 |
| Collection: |
Oxford University Research Archive (ORA) |
| Description: |
BackgroundThe Global Burden of Disease Study has provided key evidence to inform clinicians, researchers, and policy makers across common diseases, but no similar effort with a single-study design exists for hundreds of rare diseases. Consequently, for many rare conditions there is little population-level evidence, including prevalence and clinical vulnerability, resulting in an absence of evidence-based care that was prominent during the COVID-19 pandemic. We aimed to inform rare disease care by providing key descriptors from national data and explore the impact of rare diseases during the COVID-19 pandemic.MethodsIn this nationwide retrospective observational cohort study, we used the electronic health records (EHRs) of more than 58 million people in England, linking nine National Health Service datasets spanning health-care settings for people who were alive on Jan 23, 2020. Starting with all rare diseases listed in Orphanet (an extensive online resource for rare diseases), we quality assured and filtered down to analyse 331 conditions mapped to ICD-10 or Systemized Nomenclature of Medicine–Clinical Terms that were clinically validated in our dataset. For all 331 rare diseases, we calculated population prevalences, analysed patients’ clinical and demographic details, and investigated mortality with SARS-CoV-2. We assessed COVID-19-related mortality by comparing cohorts of patients for each rare disease and rare disease category with controls matched for age group, sex, ethnicity, and vaccination status, at a ratio of two controls per individual with a rare disease.FindingsOf 58 162 316 individuals, we identified 894 396 with at least one rare disease and assessed COVID-19-related mortality between Sept 1, 2020, and Nov 30, 2021. We calculated reproducible estimates, adjusted for age and sex, for all 331 rare diseases, including for 186 (56·2%) conditions without existing prevalence estimates in Orphanet. 49 rare diseases were significantly more frequent in female individuals than in male individuals, and 62 ... |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1016/s2589-7500(24)00253-x |
| Availability: |
https://doi.org/10.1016/s2589-7500(24)00253-x; https://ora.ox.ac.uk/objects/uuid:a867b48f-355d-4307-91d6-f93a44e3414a |
| Rights: |
info:eu-repo/semantics/openAccess ; CC Attribution (CC BY) |
| Accession Number: |
edsbas.11F25091 |
| Database: |
BASE |