Wilson disease (WD) has an estimated prevalence of 1 in 37,000 and an incidence of 1 per 1,000,000 person-years among the northern Portuguese population, according to a new study published in the journal Cureus that measured epidemiological, diagnostic, and management data over a 20-year time period.

The study analyzed health records from 1995 to 2015 and identified 94 patients with WD during that time from an estimated population of 3.5 million people. The median age at diagnosis for the patients was 16.58 years, with initial presentation of symptoms occurring at a median of 15.00 years. If asymptomatic patients were excluded, the average delay between symptom onset and diagnosis was .3 years.

Read more about WD epidemiology

At presentation, more than half of the patients (54.8%) had hepatic symptoms, with 37.0% already being at an advanced stage of liver disease compatible with cirrhosis. Mainly, neurological symptoms were observed in 10.7% of patients, and 17.9% of patients had mixed neurological and hepatic symptoms.

The predominant manifestations in patients with neurological involvement included tremors (21.3%), speech disorders and/or dystonia (6.4%), psychiatric disorders (4.3%), and gait disturbances (4.3%).

When comparing patients with predominantly hepatic symptoms to those with predominantly neurological symptoms, those with neurological symptoms were significantly older at diagnosis (P =.001) and had lower urinary copper (P =.001), alanine transaminase (ALT; P .002), and aspartate transaminase (AST; P <.001) levels.

During patient follow-up, the most frequently used therapy was penicillamine, which was utilized in 76.1% of patients. Adverse reactions to penicillamine were observed in 28.4% of patients, and 1 in 5 neurological patients experienced clinical worsening after penicillamine treatment. Additional treatments included trientine in 40.9% and zinc therapy in 37.5% of patients.

A significant reduction in AST (P =.002) and ALT (P =.002) levels was observed 6 to 12 months after treatment initiation. However, no change in urinary copper excretion was observed (P =.255). A total of 23.9% of patients received liver transplants during the follow-up period, with a median of 11 months between diagnosis and transplant.

“These findings contributed to a better understanding of the epidemiology, diagnosis, and management of WD, which showed to be similar to previous reports of other countries,” the authors wrote.


Sousa B, Magalhães P, Pinto A, et al. Wilson’s disease: a prevalence study in a Portuguese population. Cureus. Published online August 18, 2023. doi:10.7759/cureus.43718