Social and demographic characteristics of a Polish cohort with Wilson disease and the impact of treatment persistence

Wojciech Maselbas,Tomasz Litwin,Anna Czlonkowska

doi:10.1186/s13023-019-1133-2

Wojciech Maselbas, Tomasz Litwin + Show 1 more

Open Access

https://doi.org/10.1186/s13023-019-1133-2

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Abstract

BackgroundWilson disease (WD) is a genetic disorder involving impaired copper metabolism, which presents with hepatic, neurological, and/or psychiatric manifestations. WD requires lifelong pharmacotherapy and treatment persistence may be problematic. We studied social characteristics, education, and work-related activities and how they are affected by WD symptoms and treatment persistence.MethodsIn a cross-sectional study, data on demographic characteristics, achieved education level, household and marital status, plus a primary source of income were collected from 202 Polish subjects (mean ± standard deviation age of 36.4 ± 9.9 years at assessment) with WD.ResultsOverall, WD appeared to have a negative impact on achieved level of education and influenced the ability to work as compared with the general Polish population. Patients with neurological manifestations less often achieved upper-secondary/post-secondary or higher education compared with those with hepatic manifestations (65.5% vs. 83.6%; p = 0.003). They also significantly less frequently stated salary (19.6% vs. 56.2%; p < 0.0001) as the primary income and more often were on disability pension (53.3% vs. 26.0%; p = 0.0003). The percentage of married patients with WD appeared lower than in the general population (47.0% vs. 54.6%), although the difference was not significant (p = 0.2). The 27.6% of patients who were non-persistent with WD treatment less frequently achieved upper/post-secondary or higher education compared with persistent patients (66.0% vs. 76.3%; NS) and their primary source of outcome was significantly less often a salary (18.9% vs. 40.3%; p = 0.001).ConclusionsNeurological manifestations had an adverse effect on education level and work ability. Treatment non-persistence had a further negative impact regardless of the disease form. Patients with WD should receive appropriate treatment, with the need for persistence emphasized and monitored to avoid a detrimental effect on their lives.

Highlights

Wilson disease (WD) is an autosomal recessive disorder of impaired copper metabolism caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase involved in copper transportation across cell membranes [1]
The clinical symptoms of WD are initially related to accumulation of copper in the liver, which often leads to hepatic insufficiency
For the majority of patients, initial medication was d-penicillamine (57.1%), with zinc sulphate prescribed to 41.7%; treatment was initiated several days after diagnosis

Summary

Introduction

Wilson disease (WD) is an autosomal recessive disorder of impaired copper metabolism caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase involved in copper transportation across cell membranes [1]. Decreased ATP7B function leads to reduced incorporation of copper into ceruloplasmin and impaired biliary excretion. The clinical symptoms of WD are initially related to accumulation of copper in the liver, which often leads to hepatic insufficiency. Hepatic copper accumulation is followed by toxic effects on the nervous system, especially in the brain. Wilson disease (WD) is a genetic disorder involving impaired copper metabolism, which presents with hepatic, neurological, and/or psychiatric manifestations. Education, and work-related activities and how they are affected by WD symptoms and treatment persistence

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