Persistence with treatment for Wilson disease: a retrospective study

Wojciech Masełbas,Maciej Niewada,Anna Członkowska,Tomasz Litwin

doi:10.1186/s12883-019-1502-4

Wojciech Masełbas, Maciej Niewada + Show 2 more

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https://doi.org/10.1186/s12883-019-1502-4

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Abstract

BackgroundWilson disease (WD) is genetically induced failure of copper metabolism which can be successfully treated with pharmacological agents. The prognosis for survival in most WD patients is favorable if diagnosis and anti-copper treatment are provided early. Many observations imply that persistence with drug treatment is generally low in patients with chronic diseases, which impact the treatment effectiveness, but such results are very limited in WD. The aim of our study was to assess persistence with treatment among WD patients, to analyze its effect on patient outcome and to identify factors that might be related to persistence.Methods170 newly diagnosed, symptomatic patients with WD who started treatment between 1995 and 2005 were analyzed retrospectively to assess treatment non-persistence, which was defined as at least one reported break of more than 3 months or minimum two breaks lasting longer than 2 months. Results were further analyzed according to selected clinical variables.ResultsOnly 74.1% of patients were persistent with treatment during the mean 11.7 years of follow up. Treatment persistence closely impacted positive clinical outcomes. In patients classified as persistent, improvement and lack of WD progression were observed more often compared to those classified as non-persistent (29.4 and 68.3% vs. 2.3 and 45.5%; p < 0.001, respectively). In contrast, non-persistent patients presented more often with worsening WD than persistent patients (52.3% vs. 2.4%). Type of WD treatment, gender, phenotypic presentation, adverse events and duration of treatment were not related to treatment persistence. Higher or upper/post-secondary education and a supportive family attitude towards treatment were the most important factors related to persistence.ConclusionsOne quarter of WD patients were not taking anti-copper treatment regularly and this had an important negative effect on clinical outcome. Family support played an important role in treatment persistence.

Highlights

Wilson disease (WD) is genetically induced failure of copper metabolism which can be successfully treated with pharmacological agents
Wilson disease (WD) is genetically induced failure of copper metabolism caused by mutations in the ATP7B gene located on chromosome 13 and is inherited in an autosomal, recessive pattern [1, 2]
Of the 190 patients asked to complete the detailed questionnaire, responses were obtained from 172 patients; due to incomplete data in two surveys, the final analysis was conducted on 170 subjects

Summary

Introduction

Wilson disease (WD) is genetically induced failure of copper metabolism which can be successfully treated with pharmacological agents. The prognosis for survival in most WD patients is favorable if diagnosis and anti-copper treatment are provided early. Many observations imply that persistence with drug treatment is generally low in patients with chronic diseases, which impact the treatment effectiveness, but such results are very limited in WD. Wilson disease (WD) is genetically induced failure of copper metabolism caused by mutations in the ATP7B gene located on chromosome 13 and is inherited in an autosomal, recessive pattern [1, 2]. Mutated ATP7B leads to dysfunction of the copper-transporting adenosine triphosphatase that it encodes, which results in reduced incorporation of copper into ceruloplasmin and lower biliary excretion of this microelement.

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