Ingunn Westerheim, Valerie Cormier-Daire, Scott Gilbert, Sean O’Malley, Richard Keen
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引用次数: 0
摘要
成骨不全症(OI)是一种遗传性骨骼疾病,由多种亚型组成,临床表现各不相同,其中 I 型被认为是最不严重的类型,而 III/IV 型则是最严重的类型。该研究旨在了解欧洲各地 OI 患者的诊断和治疗过程。我们开展了一项定性描述性研究,以了解开放性肺结核患者的治疗历程。我们使用专门编制的调查问卷,对欧洲各地的部分 OI 患者/其护理人员和参与 OI 患者护理的临床医生进行了访谈。2022 年 5 月至 2022 年 7 月期间,我们对来自欧洲各地的 22 名 OI 患者/护理人员和 22 名临床医生(内分泌科医生、整形外科医生、遗传学家和代谢专家)进行了访谈。我们的研究显示了开放性阻塞性肺病群体关注的各个领域。及时诊断 OI 至关重要;误诊和延误开始治疗的情况非常普遍。对于最佳治疗方法(包括何时开始使用双膦酸盐治疗以及给药途径)和患者的全程管理,目前还缺乏一致的指导原则。成人骨质疏松症患者没有医疗之家,通常由内分泌科医生和风湿免疫科医生负责管理。成人护理通常是在出现新症状时才做出反应。OI 带来的社会心理负担会影响患者的生活质量。目前迫切需要提高对 OI 及其各种症状的认识。尤其需要制定共识指南,概述在开放性阻塞性肺病患者的整个生命周期内应采取的最佳护理措施。
Osteogenesis Imperfecta: A study of the patient journey in 13 European countries
Osteogenesis imperfecta (OI) is a heritable skeletal disorder and comprises various subtypes that differ in clinical presentation, with Type I considered the least severe and Types III/IV the most severe forms. The study aim was to understand the OI patient diagnostic and treatment journey across Europe. We conducted a qualitative, descriptive study to understand the OI patient journey. A selection of people with OI/their caregivers and clinicians involved in OI-patient care from across Europe were interviewed using a specially developed questionnaire. Between May 2022 and July 2022, 22 people with OI/caregivers and 22 clinicians (endocrinologists, orthopaedic surgeons, geneticists and metabolic specialists) from across Europe were interviewed. Our study showed various areas of concerns for the OI community. Timely diagnosis of OI is essential; misdiagnoses and a delay to treatment initiation are all too common. There are a lack of consensus guidelines regarding optimal treatments (including when bisphosphonate therapy should be initiated and the route of administration) and patient management throughout the duration of the patient’s life. Adult OI patients do not have a medical home and are often managed by endocrinologists and rheumatologists. Adult care is often reactive based on the development of new symptoms. The psychosocial burden of OI impacts on the patient’s quality of life. There is an urgent need for increased awareness about OI and its wide range of symptoms. In particular, there is a need for consensus guidelines outlining the optimum care throughout the duration of the OI patient’s life.
期刊介绍:
Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.