Health-related quality of life in Wilson Disease

Introduction:

Health-related quality of life (HRQL) has become an important outcome measure in patients with chronic disease. It reflects how well the individual is able to cope in daily life with the burden of disease and treatment. It has been shown that HRQL is reduced in patients with chronic liver disease.

Wilson disease (WD) is a rare autosomal recessively inherited copper overload disorder caused by impaired biliary excretion of copper and can progress to end-stage liver disease associated with serve neurological symptoms.

Aim:

The aim of this study was to measure HROL in patients with Wilson disease an to determine factors associated with more serve impairment.

Methods:

This prospective study concerns 61 patients examined at the University hospital Heidelberg. HRQL was measured with the short form 36 health survey questionnaire (SF-36). Depressive symptoms were evaluated using the patients health questionnaire (PHQ-9). Clinical and laboratory data were also collected at office visits. Patients HRQL scores were compared with public norms and with HRQL scores from patients with chronic liver disease.

Results:

In general, HRQL in Wilson patients was compareable to normal population and higher to that patients with chronic liver disease.

Male Wilson patients had higher HRQL scores, especially in the psychosocial domains of the SF-36 questionnaire than female Wilson patients, statistically significant difference was obtained for the SF-36 domain role emotional (mean±standard deviation: 100±0 vs. 78,1±32,28; p=0,001).

Patients with mixed, neurological and hepatical, presentation of Wilson disease had a poorer HRQL than patients with other presentations of disease. Statistically significant differences were obtained for the domains physical function (hepatical 90,26±16,78, neurological 90,56±24,68, mixed 61,67±32,2, asymptomatic 89,29±15,66; p=0,029) and mental health component (hepatical 74,94±16,7, neurological 79,8±15,43, mixed 60,7±10,93, asymptomatic 77,91±9,96; p=0,046).

In this study treatment with d-penicillamin was associated with higher HRQL, than treatment with zinc or trientine. In the SF-36 domains bodily pain (d-penicillamin: 88,76±20,89, trientine: 72,14±26,44, zinc: 74,18±32,12; p=0,045), role emotional (d-penicillamin: 94,95±18,56, trientine: 76,19±30,46, zinc: 81,82±34,52; p=0,029), mental health (d-penicillamin: 76,36±14,44, trientine: 71,14±14,65, zinc: 62,91±15,5; p=0,026) and SF-36 total score (d-penicillamin: 81,55±11,99, trientine: 71,56±14,10, zinc: 70,62±19,84; p=0,023).

In our study all Wilson patients showed mild depressive symptoms.

Conclusions:

We conclude that Wilson patient's HRQL is less reduced than in patients with other chronic liver disease and nearly similar to general population. In this study female gender, mixed disease presentation, treatment with zinc or trientine were associated with lower HRQL.