Long-term outcomes on Quality of Life in patients with Wilson disease treated with Trientine dihydrochloride

Introduction Wilson disease (WD) is a rare autosomal recessively inherited disorder of copper (Cu) metabolism, mainly affecting the liver and brain. Trientine dihydrochloride (TETA-2HCl; trientine) is a well-established second line treatment for WD patients intolerant to D-penicillamine. It is reported that Quality of Life (QoL) is negatively impacted in WD patients with an increased risk of depression.Aim: This prospective study aimed to assess the long-term QoL outcomes in WD patients treated with TETA-2HCl.

Method The study included 51 adult WD patients who were previously treated with D-penicillamine and are on maintenance therapy with TETA-2HCl 300 mg (equivalent to 200 mg of trientine base) for at least 6 months. The EQ-5D-3L questionnaires were completed for each time point at baseline and after 6 and 12 months.

Results EQ-5D-3L questionnaires were completed by all patients (N=51). The five dimensions of the EQ-5D-3L (mobility, self-care, usual activities, pain/discomfort, anxiety/depression) were stable and generally similar at Months 6 and 12. Results of the pain/discomfort dimension showed that 20 (39.2%) patients experienced moderate pain or discomfort at Baseline, compared to 20 (39.2%) patients after 6 months and 24 (47.1%) after 12 months. Extreme pain or discomfort was experienced at Baseline by 4 (7.8%) patients, after 6 months by 2 (3.9%) patients and after 12 months by 3 (5.9%) patients. Moderate anxiety or depression was noted at Baseline in 15 (29.4%) patients, after 6 months in 11 (21.6%) patients and after 12 months in 9 (17.6%) patients. Extreme anxiety or depression were experienced by 2 (3.9%) at all three time points. Detailed results of the EQ-5D-3L questionnaire are presented in the table below ([Abb. 1]).

Abb. 1  

Conclusion After long-term therapy with TETA-2HCl, patients with WD generally reported good mobility, self-care and ability to carry out their usual activities. However, almost half of the patients reported pain or discomfort. A similar result was observed regarding reports of anxiety or depression, which also affected up to half of the patients at Baseline. However, the proportion reporting moderate anxiety or depression decreased substantially during the 12 months of treatment. Nevertheless, assessment of anxiety and depression in patients with WD is warranted, even during maintenance therapy.

Publication History

Article published online:
28 August 2023