The Patient-Reported Experience of Living with Wilson Disease

Abstract

Aim: This research was conducted to collect patient-reported data on the experience of living with Wilson disease and to broaden the existing knowledge of a rare neurometabolic disease with varied clinical manifestations. Materials & methods: Adult patients with Wilson disease or caregivers were recruited through a Wilson disease association or advocacy group, and asked to complete an online survey that assessed various aspects of living with Wilson disease. Survey data were analyzed descriptively. Results: 21 adults with Wilson disease completed the survey. Respondents reported experiencing signs, symptoms and diagnoses related to movement (e.g., involuntary muscle contractions [n = 9, 42.9%]), cognition (e.g., anxiety [n = 15, 71.4%]) and liver problems. Respondents most frequently reported medication regimen and financial burden as the most bothersome impacts of Wilson disease. Conclusion: The data expand the existing knowledge of this rare neurometabolic disease with heterogeneous clinical manifestations.

“Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: A qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US

“…A comparison study of the effectiveness of prescription zinc acetate and alternative zinc preparations, typically found over-the-counter zinc (zinc salts), implied that both were effective, as the absorption is good in many but not all patients (23). Like our study, the North American survey previously mentioned also found that access to medication was one of the most common concerns for adult patients' future well-being (22). While there are patient assistance programs aimed at increasing access to medication, these are not available to everyone (26).…”

“…The North American survey did not identify emotional burden as a severe issue; however, when this topic was mentioned, the most frequent impacts described were feeling overwhelmed, anxious, or worried and having concerns about the future (22). Our study had similar ndings, with the most commonly reported emotional impacts by patients being feelings of concern about the future, in addition to relief in relation to the diagnosis journey.…”

“…In the current study, some patients described the di cult medication regimen, especially for zinc. In a recent survey of 21 WD patients in the USA and Canada, one of the most burdensome aspects of the illness reported was the medication regimen (22), which is one of the main reasons for poor medication adherence, along with zinc's side effects, usually nausea (18) and gastrointestinal upset, an issue also reported in this sample. Poor adherence is commonly highlighted in the WD literature (6, 23) and is seen in around 40% of patients (17).…”

“…A note of caution about the de nition of COE, which relies exclusively on the assessment of a patient association. The patient sample was diverse in terms of age, gender, age of diagnosis, and insurance coverage, but was not heterogeneous in terms of race, with most of the sample being White (83%), which does not re ect the distribution of WD across ethnic groups (4,22). Therefore, our study cannot be generalized across all US communities, and further research is required to explore how the issues identi ed in our research impact on different races and ethnicities.…”

Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study

“…The impact of WD on a patient's life was measured using ad hoc questionnaires based on the 5-point Likert scale questions adapted from Dress et al [21], including questions on the difficulty experienced in performing activities of daily living, the impact of the disease on social life, emotional status, and executive function.…”