Wilson's Disease: A Prevalence Study in a Portuguese Population

Area of Science:

• Hepatology
• Genetics
• Epidemiology

Background:

• Wilson's disease (WD) is a rare genetic disorder of copper metabolism.
• Epidemiological data for WD in Portugal are limited.
• Anomalous copper deposition causes significant morbidity.

Purpose of the Study:

• To determine the prevalence and incidence of Wilson's disease in northern Portugal.
• To describe the clinical and laboratory characteristics of WD patients.
• To evaluate treatment responses in a Portuguese cohort.

Main Methods:

• Retrospective study of 94 patients from 1995-2015 in northern Portugal.
• Utilized national health service data, hospital records, and liver biopsy results.
• Statistical analysis of clinical and biochemical data.

Main Results:

• Prevalence of 1:37,000 and incidence of 1 per million person-year found.
• Most patients (56%) presented in pediatric age, with a median diagnosis age of 16.6 years.
• Liver disease was predominant (54.8%), with neurological symptoms linked to delayed diagnosis and Kayser-Fleischer rings.

Conclusions:

• This study provides crucial epidemiological insights into WD in Portugal.
• WD should be considered in unexplained hepatic or neurological symptoms, even in young children.
• Elevated transaminases can indicate early-stage WD; liver enzymes are sensitive treatment response markers.