Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Sep 11;19(1):335.
doi: 10.1186/s13023-024-03351-2.

Epidemiology of Wilson disease in Germany - real-world insights from a claims data study

Shona Fang  1 , Peter Hedera  2 , Julia Borchert  3 , Michael Schultze  4 , Karl Heinz Weiss  5
Affiliations

Epidemiology of Wilson disease in Germany - real-world insights from a claims data study

Shona Fang et al. Orphanet J Rare Dis. .

Abstract

Background: Wilson disease (WD) is a rare disorder of copper metabolism, causing copper accumulation mainly in the liver and the brain. The prevalence of WD was previously estimated around 20 to 33.3 patients per million for the United States, Europe, and Asia, but data on the prevalence of WD in Germany are limited.

Objectives: To describe patient characteristics and to assess prevalence of WD in Germany using a representative claims database.

Methods: WD patients were identified in the WIG2 (Wissenschaftliches Institut für Gesundheitsökonomie und Gesundheitssystemforschung; Scientific Institute for Health Economics and Health Systems Research) benchmark database of 4.5 million insured Germans by combining ICD-10-coding with WD-specific lab tests and treatments. The study period ranged from 2013 to 2016 for assessing patient characteristics, and to 2018 for prevalence, respectively.

Results: Seventy unique patients were identified. Most patients (86%) were between 18 and 64 years of age and more often male (60%) than female. Two patients (3%) younger than 18 years were included, as well as 8 patients (11%) older than 64 years. Most common WD subtypes were hepatic (57%), psychiatric (49%), and neurologic (44%). Average prevalence was 20.3 patients per million (range: 17.8-24.4), with similar results for two-year prevalence. Generally, prevalence increased steadily over the study period. Observed mortality was low, with only one death during the study period.

Conclusions: This study adds valuable real-world data on the prevalence and patient characteristics of WD in Germany. Generally, our findings align with other reports and contribute to the global understanding of WD epidemiology. Still, regional and temporal trends remain to be investigated more thoroughly to further the understanding of the natural history and epidemiology of this rare disease.

Keywords: Claims data; Epidemiology; Prevalence; Real-world evidence; Wilson disease.

PubMed Disclaimer

Conflict of interest statement

KHW has no disclosures related to this work. KHW advises for Alexion, Univar, Orphalan, Desitin, Tilomed, Ultragenyx, Pfizer, Vivet therapeutics, Abbvie. SF is an employee of Alexion, AstraZeneca Rare Disease, and may own stock of AstraZeneca. MS was an employee of Kantar Health at the time of the study, which was contracted by Alexion to conduct this study, and he now works for ZEG – Berlin Center for Epidemiology and Health Research GmbH. JB is an employee of WIG2 GmbH, which was contracted by Alexion to conduct this study.

References

    1. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson’s disease. Lancet. 2007;369(9559):397–408. 10.1016/S0140-6736(07)60196-2. 10.1016/S0140-6736(07)60196-2 - DOI - PubMed
    1. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet. 1995;9(2):210–17. 10.1038/ng0295-210. 10.1038/ng0295-210 - DOI - PubMed
    1. Yang G-M, Xu L, Wang R-M, et al. Structures of the human Wilson disease copper transporter ATP7B. Cell Rep. 2023;42(5):112417. 10.1016/j.celrep.2023.112417. 10.1016/j.celrep.2023.112417 - DOI - PubMed
    1. Lucena-Valera A, Perez-Palacios D, Muñoz-Hernandez R, Romero-Gómez M, Ampuero J. Wilson’s disease: revisiting an old friend. World J Hepatol. 2021;13(6):634–49. 10.4254/wjh.v13.i6.634. 10.4254/wjh.v13.i6.634 - DOI - PMC - PubMed
    1. Schilsky ML, Roberts EA, Bronstein JM et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 practice guidance on Wilson disease from the American Association for the study of liver diseases. Hepatology (Baltimore, Md.) 2022. 10.1002/hep.32801 - PubMed

LinkOut - more resources