Wilson Disease Watch

s of the European Wilson Disease Congress EuroWilsoN: European Wilson’s Disease Network Improving information, knowledge and access to expertise and care 2 Summary Quality of life in patients with treated and clinically stable Wilson's disease Kostić VS, Svetel M, Pekmezović T, Tomić A, Kresojević N, Potrebić A, Ješić R Institute of Neurology, School of Medicine, University of Belgrade, Serbia Wilson’s disease (WD), a rare autosomal recessive disease, has prevalence between 12 and 29 per 100,000 in European population. In the years 1980–2007, a cohort of 142 patients with WD (54 presented with neurologic symptoms, 49 with hepatic symptoms, 33 had mixed form, and data were missing for six patients) was followed-up (for patients alive mean duration was 11.1 ± 8.8 years). After initiation of treatment (d-penicillamine and zinc salts), 79% of patients had a stable or improved course of disease. Despite early diagnosis and appropriate therapy, 15 patients still had a relentlessly progressive course. Thirty patients died. The cumulative probability of survival in a 15-year period for the whole group was 76.7 ± 4.9%. Better prognosis of WD was associated with male sex, younger age at onset, neurologic form of the disease, and treatment continuity. In continuation, we were interested in the Health-related quality of life (HRQoL) in WD, since it has not been extensively studied. Therefore, the purpose of this cross-sectional study was to identify clinical and demographic factors influencing HRQoL in 60 treated, clinically stable patients with WD using a generic questionnaire, the Medical Outcomes Study Short-Form 36-Item Health Survey (SF-36). The level of disability and grading of WD multisystemic manifestations were assessed by the Global Assessment Scale for WD (GAS for WD). The Mini Mental State Examination (MMSE) and the 21-item Hamilton Depression Rating Scale (HDRS) scoring were also applied by the same trained interviewers. Lower scores on the SF-36 domains were found in patients with neurological compared with those with a predominantly hepatic form of WD. The HRQoL of patients with WD and psychiatric symptoms was also lower than that of those without them. Finally, significant inverse correlations were obtained between the various SF-36 domains and all the following: period of latency from the first symptoms/signs appearance and treatment initiation, MMSE and HDRS scores, and different domains of the GAS for WD.