Abstract

BackgroundThe aim of this study was to determine the risk for Bipolar Disorder (BD) in Wilson’s disease (WD) and to measure the impaired Quality of Life (QL) in BD with WD using standardized psychiatric diagnostic tools and a case control design.MethodsThis was a case control study. The cases were 23 consecutive patients with WD treated at the University Hospital in Cagliari, Italy, and the controls were 92 sex- and age-matched subjects with no diagnosis of WD who were randomly selected from a database used previously for an epidemiological study. Psychiatric diagnoses according to DSM-IV criteria were determined by physicians using structured interview tools (ANTAS-SCID). QL was measured by means of SF-12.ResultsCompared to controls, WD patients had lower scores on the SF-12 and higher lifetime prevalence of DSM-IV major depressive disorders (OR = 5.7, 95% CI 2.4–17.3) and bipolar disorders (OR = 12.9, 95% CI 3.6–46.3). BD was associated with lower SF-12 in WD patients.ConclusionsThis study was the first to show an association between BD and WD using standardized diagnostic tools and a case control design. Reports in the literature about increased schizophrenia-like psychosis in WD and a lack of association with bipolar disorders may thus have been based on a more inclusive diagnosis of schizophrenia in the past. Our findings may explain the frequent reports of loss of emotional control, hyperactivity, loss of sexual inhibition, and irritability in WD patients. This study was limited by a small sample size.

Highlights

  • The aim of this study was to determine the risk for Bipolar Disorder (BD) in Wilson’s disease (WD) and to measure the impaired Quality of Life (QL) in BD with WD using standardized psychiatric diagnostic tools and a case control design

  • The results indicated that the lifetime prevalence of DSM-IV bipolar and major depressive disorders is higher in people with WD than in sex- and age-matched controls

  • Our study shows an association between Bipolar Disorder and WD using the strict algorithm of DSM-IV or using the more comprehensive “spectrum” subject detected by Mood Disorder Questionnaire (MDQ)

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Summary

Introduction

The aim of this study was to determine the risk for Bipolar Disorder (BD) in Wilson’s disease (WD) and to measure the impaired Quality of Life (QL) in BD with WD using standardized psychiatric diagnostic tools and a case control design. Wilson’s disease (WD) is an inherited autosomal recessive disorder that affects copper metabolism. It is caused by mutations in a gene on chromosome 13 that encodes ATP 7B, an adenosine triphosphatase involved in copper transportation across cell membranes [1,2]. The clinical manifestations of WD result from gradual accumulation of free copper in tissues, which can damage many organs. WD is usually diagnosed in patients between 6 and 8 years of age when symptoms first become clear [5]. Onset in patients >40 years is rare [6]

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