PDF(Pubmed)
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.
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.
摘要：
背景：威尔逊病（WD）是一种铜代谢的遗传性疾病，导致铜在各种器官中积累，主要是肝脏和大脑，导致肝脏异质性，神经学，和精神症状。诊断可以发生在任何年龄，需要终身治疗,这可能涉及肝移植。这项定性研究旨在了解美国更广泛的患者和医生对WD的诊断和管理的经验。
方法：主要数据来自对美国患者和医生的1:1半结构化访谈，并使用NVivo进行主题分析。
结果：采访了12名WD患者和7名WD专科医生（肝病学家和神经科医师）。对采访的分析揭示了18个主题，分为5个总体类别：(1)诊断旅程，（2）多学科方法，（3）药物治疗，(4)保险的作用,（5）教育，意识,和支持。出现精神或神经系统症状的患者报告的诊断旅程（范围1至16年）比出现肝脏症状或通过遗传筛查（范围2周至3年）的患者更长。所有人都受到与WD专家的地理邻近和获得综合保险的影响。探索性测试通常对患者来说是繁重的，但是收到明确的诊断可以缓解一些人的病情。内科医生强调了肝病学以外的多学科团队的重要性，神经学,和精神病学，并建议联合使用螯合，锌，和低铜饮食；然而，这个样本中只有一半的病人服用了螯合剂,由于保险问题，一些人难以获得处方锌。照顾者经常提倡并支持青少年的药物和饮食方案。患者和医生建议对医疗保健社区进行更多的教育和认识。
结论：由于其复杂的性质，WD需要几位专家之间的护理和药物协调，但是由于地理或保险障碍，许多患者无法获得多个专科。因为有些病人不能在卓越中心接受治疗，轻松获取可靠和最新的信息对于增强医生的能力非常重要，病人,以及他们的照顾者管理病情，以及一般的社区外展计划。
方法：主要数据来自对美国患者和医生的1:1半结构化访谈，并使用NVivo进行主题分析。
结果：采访了12名WD患者和7名WD专科医生（肝病学家和神经科医师）。对采访的分析揭示了18个主题，分为5个总体类别：(1)诊断旅程，（2）多学科方法，（3）药物治疗，(4)保险的作用,（5）教育，意识,和支持。出现精神或神经系统症状的患者报告的诊断旅程（范围1至16年）比出现肝脏症状或通过遗传筛查（范围2周至3年）的患者更长。所有人都受到与WD专家的地理邻近和获得综合保险的影响。探索性测试通常对患者来说是繁重的，但是收到明确的诊断可以缓解一些人的病情。内科医生强调了肝病学以外的多学科团队的重要性，神经学,和精神病学，并建议联合使用螯合，锌，和低铜饮食；然而，这个样本中只有一半的病人服用了螯合剂,由于保险问题，一些人难以获得处方锌。照顾者经常提倡并支持青少年的药物和饮食方案。患者和医生建议对医疗保健社区进行更多的教育和认识。
结论：由于其复杂的性质，WD需要几位专家之间的护理和药物协调，但是由于地理或保险障碍，许多患者无法获得多个专科。因为有些病人不能在卓越中心接受治疗，轻松获取可靠和最新的信息对于增强医生的能力非常重要，病人,以及他们的照顾者管理病情，以及一般的社区外展计划。
