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other·gastroenterology, neurology, psychiatry, internal medicine, family medicine·PMC10288732

“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

Orphanet Journal of Rare Diseases · 4 authors, 4 centres

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TL;DR

This qualitative study used semi-structured interviews with 12 Wilson disease patients and 7 specialist physicians in the US to explore experiences of diagnosis and management.

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Interviews revealed 18 themes organized into five categories: diagnosis journey, multidisciplinary approach, medication, insurance role, and education and awareness. Patients with psychiatric or neurological presentations reported diagnostic journeys ranging from 1 to 16 years, compared with 2 weeks to 3 years for those presenting hepatically or through genetic screening. Physicians considered 3 months an optimal diagnostic timeframe. Only half of patients were on a chelator, with insurance frequently cited as a barrier. Some patients struggled to access prescription zinc. Uptake for psychological support was low despite patients reporting mental health difficulties. The patient sample was predominantly White (83%), limiting generalizability. Findings underscore the need for greater education and awareness of Wilson disease outside of Centers of Excellence to support timely diagnosis and equitable access to multidisciplinary care.

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other

SPECIALTY

gastroenterology

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AI pipeline

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ORIGINAL PAPER

PMC10288732

“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

Orphanet Journal of Rare Diseases

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ABSTRACT

Abstract Background Wilson disease (WD) is a genetic disorder of copper metabolism that leads to copper accumulation in various organs, primarily the liver and brain, resulting in heterogenous hepatic, neurologic, and psychiatric symptoms. Diagnosis can occur at any age, requiring lifelong treatment, which can involve liver transplantation. This qualitative study aims to understand the wider patient and physician experience of the diagnosis and management of WD in the US. Methods Primary data were collected from 1:1 semi structured interviews with US-based patients and physicians and thematically analyzed with NVivo. Results Twelve WD patients and 7 specialist WD physicians (hepatologists and neurologists) were interviewed. Analysis of the interviews revealed 18 themes, which were organized into 5 overarching categories: (1) Diagnosis journey, (2) Multidisciplinary approach, (3) Medication, (4) The role of insurance, and (5) Education, awareness, and support. Patients who presented with psychiatric or neurological symptoms reported longer diagnostic journeys (range 1 to 16 years) than those presenting with hepatic symptoms or through genetic screening (range 2 weeks to 3 years). All were also affected by geographical proximity to WD specialists and access to comprehensive insurance. Exploratory testing was often burdensome for patients, but receipt of a definitive diagnosis led to relief for some. Physicians emphasized the importance of multidisciplinary teams beyond hepatology, neurology, and psychiatry and recommended a combination of chelation, zinc, and a low-copper diet; however, only half the patients in this sample were on a chelator, and some struggled to access prescription zinc due to insurance issues. Caregivers often advocated for and supported adolescents with their medication and dietary regimen. Patients and physicians recommended more education and awareness for the healthcare community. Conclusions WD requires the coordination of care and medication among several specialists due to its complex nature, but many patients do not have access to multiple specialties due to geographical or insurance barriers. Because some patients cannot be treated in Centers of Excellence, easy access to reliable and up-to-date information is important to empower physicians, patients, and their caregivers in managing the condition, along with general community outreach programs. Keywords: Wilson disease, Qualitative, Interviews, Patient-reported, Treatment experience

CITATION EXPORT

Karen M Bailey, Navdeep Sahota, Uyen To et al.. “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. Orphanet Journal of Rare Diseases. (2023). https://doi.org/10.1186/s13023-023-02778-3

AUTHORS

4 · 4 CENTRES

Karen M Bailey, Navdeep Sahota, Uyen To, Peter Hedera

1OPEN Health, London, UK
2Yale University, New Haven, Connecticut, United States
3University of Louisville, Louisville, KY USA
4Department of Neurology Institution, University of Louisville, 220 Abraham Flexner Way, Suite 606, Louisville, KY 40202 USA