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Wilson's Disease in Finland: A Nationwide Population-Based Study
Jussi O T Sipilä1,2, Marja Hietala3,4, Ville Kytö5,6,7
1Clinical Neurosciences, University of Turku and Turku University Hospital, Turku, Finland.
Summary
Wilson's disease is rare in Finland, with low prevalence and incidence. Affected individuals face a significantly increased risk of death, highlighting a critical unmet treatment need.
Area of Science:
- Neurology
- Hepatology
- Rare Diseases
Background:
- Epidemiological and prognostic data for Wilson's disease are limited.
- No prior clinical data from Finland were available for this rare genetic disorder.
Purpose of the Study:
- To determine the epidemiology and clinical characteristics of Wilson's disease in Finland.
- To assess the long-term survival outcomes for patients with Wilson's disease in Finland.
Main Methods:
- A nationwide study identified all individuals diagnosed and treated for Wilson's disease in Finnish hospitals between 1998 and 2017.
- Data were compiled from national registries and individual patient charts.
Main Results:
- The point prevalence on December 31, 2017, was 0.45/100,000, lower in native Finns (0.35/100,000).
- Median age at diagnosis was 15.8 years, with liver damage (58%), neurological symptoms (40%), or asymptomatic presentation (32%).
- Patients exhibited poorer long-term survival compared to matched controls (HR 2.92 for death).
Conclusions:
- Wilson's disease is exceptionally rare in the Finnish population.
- Patients with Wilson's disease have a significantly elevated mortality risk, indicating a need for improved treatment strategies.
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