探索肺动脉高血压的诊断和治疗奥德赛:来自深入半结构面试的见解
Emilia M Swietlik1,2,3, Michaela Fay4, Nicholas W Morrell1
1Department of Medicine, The Victor Phillip Dahdaleh Heart and Lung Research Institute, University of Cambridge, Cambridge, UK.
Respiration; international review of thoracic diseases
|September 9, 2024
概括
肺动脉高血压 (PAH) 患者面临着漫长的诊断旅程和治疗挑战. 改善早期诊断,基因测试整合和患者支持对于更好的PAH结果至关重要.
科学领域:
- 医学遗传学 医学遗传学
- 罕见疾病 罕见疾病
- 肺动脉高血压 肺动脉高血压
背景情况:
- 患有罕见疾病的患者,包括肺动脉高血压 (PAH),经历了长时间的诊断旅程,治疗选择有限,缺乏有效的监测工具.
- 基因诊断对于了解罕见疾病,实现向治疗,促进遗传咨询和家庭测试至关重要.
- 美国国立卫生研究院的生物资源 - 罕见疾病 (NBR) 研究和PAH队列研究在25%的异形性PAH病例中确定了遗传原因,但完整的患者旅程仍未得到充分探索.
研究的目的:
- 探索肺动脉高血压 (PAH) 患者的诊断和治疗旅程.
- 确定患者在整个疾病过程中所面临的未满足需求和挑战.
- 为改善PAH诊断,治疗和患者护理的策略提供信息.
主要方法:
- 从NIHR生物资源 - 罕见疾病 (NBR) 研究和异形性和遗传性肺动脉高血压队列研究 (PAH队列研究) 的利益相关者的有目的抽样.
- 与63名参与者进行了深入访谈和重点小组.
- 使用MAXQDA软件对记录,转录和匿名数据进行主题分析.
主要成果:
- 诊断旅程涉及五个阶段,从最初的担忧到接受诊断,经历了错误诊断和对遗传结果的各种情绪反应.
- 治疗旅程提出了挑战,包括对职业和社会生活的影响,疾病理解,医疗保健沟通,治疗障碍和保险问题.
- 确定的未满足需求包括加强初级保健合作,心理支持,持续的患者教育,以及改进的研究和治疗整合.
结论:
- 在PAH患者的诊断和治疗过程中存在重大挑战.
- 建议包括提高疾病意识,建立清晰的诊断途径,并将遗传诊断纳入临床实践.
- 改善患者的结果需要更好的NHS沟通,利用临床基础设施进行研究,开发有效的疗法,以及更轻松的药物输送方法.
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