罕见疾病的诊断时间:管理医疗不确定性. 一个定性研究研究
Christine Phillips1, Anne Parkinson2, Tergel Namsrai3
1School of Medicine and Psychology, Australian National University, 54 Mills Road, Canberra, 2601, ACT, Australia.
Orphanet journal of rare diseases
|August 14, 2024
概括
患有肌肉炎,原发性免疫缺陷 (PID) 和沙尔科毒症等罕见疾病的患者因症状误解而面临诊断延迟. 患者的持久性和临床医生的认可对于及时诊断罕见疾病至关重要.
科学领域:
- 医学诊断 医学诊断 医学诊断
- 罕见疾病 罕见疾病
- 患者体验 患者体验
背景情况:
- 由于临床异质性和非特异性症状,罕见疾病存在诊断挑战.
- 症状发作和诊断之间的长时间延迟对于患有罕见疾病的人来说是常见的.
- 了解患者的旅程是改善诊断时间表的关键.
研究的目的:
- 探索患有肌肉炎,原发性免疫缺陷 (PID) 和沙尔科毒症的患者从症状发作到诊断的经验.
- 确定影响罕见病诊断及时性的因素.
- 将不确定性管理理论应用于诊断旅程期间的患者体验.
主要方法:
- 使用半结构面试进行的定性研究.
- 解释性现象分析 (IPA) 框架.
- 基于不确定性管理理论的分析.
主要成果:
- 采访了26名被诊断患有肌肉炎,PID或肉类瘤的参与者.
- 诊断时间表差异很大,从几个月到20多年.
- 关键主题包括症状正常化,临床医生的特殊化,患者自我认识的断言和协作诊断.
结论:
- 在诊断前阶段的医疗不确定性被患者和临床医生的症状折扣所加剧.
- 患者和医疗保健提供者的持续努力对于实现罕见疾病诊断至关重要.
- 识别模式失效和纳入患者自我标签是重要的诊断策略.
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