RESUMO
BACKGROUND: Wilson's disease (WD) is an autosomal recessive genetic disorder due to a mutation of the ATP7B gene, resulting in impaired hepatic copper excretion and accumulation in various tissues. Lifelong decoppering treatments are the keystone of the treatment. These treatments can prevent, stabilize, or reverse the symptoms making WD a chronic disease. Quality of life (QoL) is one of the best outcome measures of any therapeutic intervention in chronic diseases but has not been evaluated in large cohorts of WD patients. METHOD: To better evaluate the QoL in WD and the correlation with different clinical or demographic factors we have performed a prospective cross-sectional study. RESULTS: Two hundred fifty-seven patients (53.3% men, mean age of 39.3 years and median disease duration of 18.8 years) were included between 1st January 2021 and 31st December 2021. Hepatoneurological form of the disease and depression were significantly correlated with low QoL (p < 0.001 for both). However, the patients' quality of life was similar to that of the general population, and only 29 patients (11.3%) had moderate to severe depression. CONCLUSIONS: Neurological patients should be closely monitored to prevent and treat symptoms of depression that impact their quality of life.
