Open AccessThe patient-reported experience of living with Wilson disease
Author(s) -
Ashley Dress,
Christina TheodoreOklota,
Shawna Egan,
Maggie Paulich,
Elliott Blatt,
Christopher J. Evans
Publication year - 2021
Publication title -
deleted journal
Language(s) - English
Resource type - Journals
ISSN - 2399-5270
DOI - 10.2217/frd-2021-0003
Subject(s) - disease , wilson's disease , medicine , anxiety , regimen , medical diagnosis , physical therapy , gerontology , family medicine , psychiatry , pathology
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.