The diagnosis and prognosis of Wilson disease have improved in the last 70 years, according to a recently published study.

This is the largest cohort of patients with the disease reported in the country with the longest follow-up period, noted Iwona Kurkowska-Jastrzębska, MD, PhD, from the Second Department of Neurology, Institute of Psychiatry and Neurology in Warsaw, Poland, and colleagues.

The researchers analyzed the clinical characteristics of patients with Wilson disease admitted to the Institute of Psychiatry and Neurology, the only reference center in Poland that provides long-term care to most adult patients.

The study is published in the European Journal of Neurology

The team assessed the demographic and clinical characteristics as well as treatment and outcomes of 929 patients from the 1950s to 2019.

Read more about the diagnosis of Wilson disease

They found that there were only 21 patients diagnosed with Wilson disease before 1959. This number increased to 315 between 2000 and 2019. 

Before the 1990s, mostly men were diagnosed with Wilson disease. After that date, however, the number of women diagnosed with the disease also increased, the authors noted.

The initial presentation consisted of neurological manifestations. However, when patients were independent in their daily living activities, the incidence of hepatic manifestations and asymptomatic presentations also increased. In more recent years, fewer Kayser-Fleischer rings were detected. 

Before 1970, treatment consisted of D-penicillamine. After the introduction of zinc, both D-penicillamine and zinc have been used at similar frequencies. Since the 1990s, 6% to 7% of patients switched between the 2 treatments. 

There has been a consistent increase in survival over the years.

“The number of diagnosed patients increased over time, with improved prognosis over the years, most likely due to more accurate and early diagnosis, effective therapy and qualified follow-up care,” the researchers concluded.

Wilson disease is a rare genetic disease characterized by the excessive accumulation of copper in the body.

Reference

Członkowska A, Niewada M, Litwin T, et al. Seven decades of clinical experience with Wilson’s disease: report from the national reference centre in Poland. Eur J Neurol. Published online November 25, 2022. doi:10.1111/ene.15646