Faculdade de Medicina e Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brasil.
Laboratório de Investigação de Pessoas com Doenças Raras (LIRA), Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
J Glob Health. 2023 Aug 4;13:04030. doi: 10.7189/jogh.13.04030.
Individuals with rare diseases (RD) have been historically understudied. Previous publications reported that existing primary health care (PHC) workforces and associated infrastructure had been shown to improve their access and health-related outcomes in low- and middle-income countries (LMICs). As current evidence about the impact of PHC on patients diagnosed with RD is yet highly dispersed, this scoping review aimed to collate available evidence of the impact of PHC on patients with RD and summarize published information from multiple stakeholders about the perceived usefulness and barriers to effective use of the PHC system.
We searched Embase, Health System Evidence, PubMed, LILACS / BVS, and The Cochrane Library, from inception to September 1, 2022, for publications providing clear expert- or experience-based insights or data from patients living with RD at the PHC level of care. We included publications highlighting barriers to integrated care of patients with RD, reported by multiple social actors involved in caring for patients with RD. Two investigators screened publications, extracted data, and clustered information among records deemed eligible for inclusion. Data synthesis was performed using narrative and thematic-based analysis. Major findings identified and coded through a semantic-driven analysis were processed in vosViewer software and reported using descriptive statistics.
Eighty publications were included in this review. Quali-quantitative analyses evidenced that the PHC level is essential for approaching patients with RD, mainly due to its longitudinal, multidisciplinary, and coordinated care delivery. In addition, several publications highlighted that the medical curriculum is inappropriate for preparing health care providers to deal with patients presenting unusual signs and symptoms and being diagnosed with RD. PHC teams are essential in orienting patients and families on emergency events. Technology-related concepts were reported in 19 publications, emphasizing their effectiveness on early diagnosis, optimal treatment definition, improvement of quality of life, and long-lasting follow-up.
We provided valuable information on the effectiveness of the PHC in fostering a creative, integrative, and supportive environment for patients living with RD. Our results can be helpful to several stakeholders in deciding what actions are still pending to achieve a solid and positive experience for patients with RD in the PHC.
PROSPERO (CRD42022332347).
罕见病患者（RD）在历史上研究不足。先前的出版物报告称，现有的初级卫生保健（PHC）劳动力和相关基础设施已被证明可以改善低收入和中等收入国家（LMICs）的RD 患者的获得途径和健康相关结果。由于目前关于 PHC 对 RD 患者影响的证据高度分散，因此本次范围综述旨在整理现有 PHC 对 RD 患者影响的证据，并总结来自多个利益相关者的关于 PHC 系统有效使用的感知有用性和障碍的信息。
我们从 2022 年 9 月 1 日之前的 Embase、Health System Evidence、PubMed、LILACS/BVS 和 The Cochrane Library 中搜索了提供清晰的专家或基于经验的见解或 PHC 护理水平 RD 患者数据的出版物。我们纳入了突出报告 RD 患者综合护理障碍的出版物，这些出版物由参与 RD 患者护理的多个社会行为者报告。两名调查员筛选出版物、提取数据，并对被认为符合纳入标准的记录进行聚类信息。使用叙述和基于主题的分析进行数据综合。通过语义驱动分析确定和编码的主要发现，然后在 vosViewer 软件中进行处理，并使用描述性统计报告。
本次综述纳入了 80 篇出版物。准定量分析表明，PHC 水平对于接近 RD 患者至关重要，主要是因为它提供了纵向、多学科和协调的护理服务。此外，一些出版物强调，医学课程不适合培养卫生保健提供者来处理出现不寻常症状和被诊断为 RD 的患者。PHC 团队在指导患者和家属应对紧急事件方面至关重要。有 19 篇出版物报道了与技术相关的概念，强调了它们在早期诊断、最佳治疗定义、改善生活质量和长期随访方面的有效性。
我们提供了关于 PHC 促进 RD 患者创造性、综合性和支持性环境的有效性的有价值信息。我们的结果可以帮助多个利益相关者决定仍需采取哪些行动，以实现 RD 患者在 PHC 中的坚实和积极体验。
PROSPERO（CRD42022332347）。
