Demographics and Outcomes Related to Wilson’s Disease Patients: A Nationwide Inpatient Cohort Study

Abstract

Background and objectiveWilson's disease (WD) is a rare autosomal recessive disease caused by mutations in the ATP7B gene, leading to impairment in copper excretion and subsequent accumulation primarily in the liver and brain. There is scarce data in the literature on the outcomes and cost burden of WD. In light of this, we aimed to assess outcomes, mortality rates, and costs associated with WD patients and their management in the United States (US). MethodsWe conducted a retrospective cohort study based on data in the National Inpatient Sample (NIS) database from 2007 to 2017. A total of 17,713 patients with a diagnosis of WD were identified using the International Classification of Diseases, Ninth or Tenth Revision (ICD-9/10) codes. Bivariate analyses were performed using t-tests for continuous variables and Pearson's chi-square tests for categorical variables, where twosided p-values <0.05 were considered statistically significant. ResultsThe majority of the 17,713 identified patients were female. The mean age of the WD cohort was 49 years. WD patients had a higher prevalence of Kayser-Fleischer rings, neuropsychiatric symptoms, and liver-related complications including acute hepatitis, liver failure, portal hypertension, and cirrhosis. Peptic ulcer disease, connective tissue disease, and hemolytic anemia were significantly more common in the WD cohort. Compared to the non-WD cohort, the WD cohort had a significantly higher mortality rate, longer length of stay (LOS), and increased hospitalization costs (p<0.0001). A higher proportion of patients who had undergone orthotopic liver transplantation (OLTx) were in the 18-34 and 35-44-year-old subgroups. On the contrary, the highest proportion of patients with WD who had not undergone OLTx were in the 55-89year-old subgroup. WD patients who had undergone OLTx had a lower degree of comorbidities, decreased mortality rate, and shorter LOS (all p<0.0001) compared to WD patients who had not undergone OLTx. ConclusionBased on our findings, patients with WD had a higher LOS, mean hospitalization costs, and mortality rate compared to the non-WD cohort. Mortality rate and LOS were significantly lower in WD patients who had undergone OLTx.

Characteristics of patients with Wilson disease in the United States: An insurance claims database study

“…Compared with the American general population, the standardised mortality ratio in patients with WD was 2.19. This suggests that WD was associated with excess mortality, as previously reported in other recent studies elsewhere[ 13 , 18 , 20 ]. In addition, the mean age at death was 57.9 years, compared with a life expectancy of 77 years in the American general population in 2020, representing a loss of around 20 life years.…”

“…The observed mortality data are consistent with data from the Polish national WD registry, in which patients with WD have also shown around 20 life years lost compared with the general population[ 13 ]. A recent study of > 17,000 patients with WD identified between 2007 and 2017 in the United States National Inpatient Sample has also described an elevated mortality in patients with WD (unadjusted mortality rate: 2.51% in patients with WD vs 2.05% in patients without)[ 20 ].…”

“…In addition, the availability of comprehensive insurance claims databases in recent years provides a powerful tool to collect retrospective data on large numbers of patients with rare diseases[ 14 - 16 ]. Insurance claims database studies of WD have now been reported from Taiwan[ 17 ], South Korea[ 18 ] and France[ 19 , 20 ].…”

Wilson disease: the diagnostic challenge and treatment outcomes in a series of 262 cases

“…Side effects were noted in 125 (53%) patients treated with DPA, in 20 (35.7%) patients treated with zinc salts, in 6 (20%) patients treated with trientine, and in 1 patient treated with dimercaprol. Dpenicillamine was changed in 50 (19.1%) patients due to proteinuria (16), neurological deterioration (8), leukopenia (7), hypersensitivity (7), elastosis perforans serpiginosa (6), dyspepsia (2), thrombocytopenia (2), depression (1), or retinitis pigmentosa (1). Two patients taking zinc sulfate switched to zinc acetate due to dyspepsia.…”

“…5,8 However, few large series with long-term follow-up can be found in the literature. [9][10][11][12][13][14][15][16][17] Given the complexity of WD and the difficulty in diagnosing it, the aim of this study was to describe the clinical presentation, results of diagnostic tests, patterns of response to treatment, and outcomes of WD patients treated at our center.…”