Observational studyBMJ open2024
Wilson disease in the USA: epidemiology and real-world patient characteristics based on a retrospective observational health claims study.
Observational study in BMJ open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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Who cites it
3 citing papers in PubMed.
- Global burden of Wilson disease: a comprehensive evidence synthesis.Orphanet journal of rare diseases · 2026Article
- Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Epidemiologic features and economic burden of Wilson's disease in South Korea: a nationwide analysis of the entire patient population.Scientific reports · 2025Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo describe the epidemiology, patient characteristics and comorbidities in patients with Wilson disease (WD) in the USA.
designRetrospective, population-based study.
settingThe study used the US Komodo claims database containing records regarding medical claims for over 120 million individuals.
participantsPatients with WD were identified via ICD-10 (10th revision of the International Classification of Diseases) code during the study period 2016-2019 and no age restriction was applied. A further stratification by disease subtype ('hepatic', 'neurologic' and 'psychiatric') was performed.
main outcome measuresWD prevalence was reported by age, sex and US census regions/divisions. Adjusted prevalence was calculated using age-specific prevalence standardised to the USA (2010 US census) and to the world (WHO 2000-2025) to enable comparisons across countries, using direct standardisation of prevalence estimates by age group.
resultsOverall, 2115 patients with WD were identified during the study period. Among them, 56.8% had hepatic symptoms, 57.0% neurologic symptoms and 47.4% psychiatric symptoms. The most frequent manifestations in hepatic patients were liver signs and symptoms (90.8%), in neurologic patients cognitive defects (50.7%) and in psychiatric patients mood disorders (86.4%). The mean age in the overall cohort was 39.9 years. Prevalence estimation was based on 1481 patients with WD between 2017 and 2019. The 2017-2019 crude period prevalence was 21.2 patients per million (95% CI: 20.1 to 22.3), with similar prevalence observed for both sexes.
conclusionsThis study provides important real-world data on the diagnosed prevalence of WD in the USA and revealed the comorbidities associated with various disease subtypes, thereby providing a comprehensive basis for guiding physicians and policy makers in the management of this chronic disease.
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