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Conflict of interest: No Introduction and Objectives: Wilson's disease (WD) is a rare autosomal recessive disease leading to impairment in copper excretion and subsequent accumulation primarily in the liver and brain. Long-term survival appears to be similar to that of the general population, depending on early diagnosis and treatment. However, studies evaluating WD survival are scarce. We aimed to evaluate the long-term survival of a cohort of WD patients followed at a single Hepatology Center in Brazil. Patients / Materials and Methods: Demographic characteristics, age at diagnosis, type of manifestation (isolated hepatic, isolated neuropsychiatric or associated hepatic and neuropsychiatric) of WD patients, followed between 1999 and 2023, were evaluated. The average survival and its relationship with the predominant disease phenotype were determined. Results and Discussion: 34 patients were evaluated, 53% female, mean age at diagnosis 21 ± 9 years (6 to 42), disease duration of 11 ± 7 years (1 to 25) until outcome. The majority (47%) had the isolated hepatic manifestation, 38% hepatic neuropsychiatric manifestations and 15% isolated neuropsychiatric disorder. The overall population mortality rate was 36%. The mean age at the time of death was 33 ± 12 years (11 to 55). The estimated average survival at 5 years was 85%, at 10 years 70% and at 20 years 40%, from diagnosis. There was a tendency towards lower survival in patients who presented neuropsychiatric manifestations, either alone or in association with liver disease, compared to patients with isolated liver manifestations (50% vs. 80%; p= 0.07). There was no difference in survival curves according to gender (p=0.82) or considering the age at onset of the disease above or below 20 years (p=0.54). Conclusions: Despite being potentially treatable, WD still presents high mortality, affecting young patients, whose survival rate is greatly reduced. WD patients with neuropsychiatric symptoms had worse survival. These data highlight the need for earlier diagnosis and easier access to treatment.

Conflict of interest: No Introduction and Objectives: Liver stiffness (LS) is increased in fibrosis related to chronic liver diseases. Nevertheless, other factors such as liver inflammation, congestion and intrahepatic deposits may also affect hepatic elasticity. We hypothesized that Wilson's disease (WD) intrahepatic copper accumulation can lead to an increase in LS. The aim of this study is to assess the changes in LS during treatment of patients with different presentations of WD. Patients / Materials and Methods: We included patients with confirmed diagnosis of WD (Leipzig score ≥4) under regular use of chelating agents or zinc salts, between 2014 and 2024. Patients who have undergone at least two transient hepatic elastography (THE; Fibroscan, ECHOSENS) during clinical follow-up, were included. The minimum interval between each elastography was one year. Patients submitted to liver transplantation were excluded. Variations in liver stiffness between the last and first THE, the anticopper therapy used, and the main WD manifestations, were evaluated. Results and Discussion: Thirteen patients were included: mean age of 28.8 ± 9.9 years; 54% female. Seven (54%) patients presented predominantly neurologic manifestation and six (46%) hepatic manifestations; 92% used chelating agents. The mean initial LS was 12.2 ± 14.8 kPa (median 7.5 kPa; ranging from 3.8 to 59.3), decreasing during treatment to 7.7 ± 4.6 kPa (median 6.3 kPa; ranging from 3.9 to 18.9) at a mean follow-up interval of 4.9 ± 2.8 years (ranging from 1 to 10) (p < 0.0001). Eight (61%) patients observed a median reduction of 2.3 kPa and five presented a median elevation of 0.3 kPa. There was no difference in LS variations according to clinical presentation of WD (p=0.387). Conclusions: In patients with WD, LS decreased in most patients during chelating therapy. Intrahepatic copper deposit might influence higher values of LS before anticopper therapy, suggesting the possibility of using THE to evaluate hepatic copper accumulation and to monitor WD treatment.