Delaye Julien, Cacciatore Pasquale, Kole Anna
European Organisation for Rare Diseases (EURORDIS), Paris, France.
GSK Vaccines Srl, Siena, Italy.
Front Pharmacol. 2022 Jun 8;13:914338. doi: 10.3389/fphar.2022.914338. eCollection 2022.
Rare diseases (RDs) are a severe, chronic, degenerative and often life-threatening group of conditions affecting more than 30 million people in Europe. Their impact is often underreported and ranges from psychological and physical symptoms seriously compromising quality of life. There is then a need to consolidate knowledge on the economic, social, and quality of life impacts of rare diseases. This scoping review is the result of 9 qualitative interviews with experts and a literature search on Cost-of-Illness (COI) studies and quality of life (QoL) studies following the PRISMA methodology. Grey literature was also included to complement findings. Results. 63 COI studies were retrieved, covering 42 diseases and a vast majority of them using a prevalence-based approach (94%). All studies included medical costs, while 60% included non-medical costs, 68% productivity losses and 43% informal care costs. 56 studies on QoL were retrieved, mostly from Europe, with 30 different measurement tools. Grey literature included surveys from the pharmaceutical industry and patient organisations. The majority of studies evaluating the impact of RDs on the individual and society use the COI approach, mostly from a societal perspective. Studies often vary in scope, making them difficult to consolidate or compare results. While medical costs and productivity losses are consistently included, QoL aspects are rarely considered in COI and are usually measured through generic tools. A comprehensive study on impact of rare disease across countries in Europe is lacking. Existing studies are heterogeneous in their scope and methodology and often lack a holistic picture of the impact of rare. Consensus on standards and methodology across countries and diseases is then needed. Studies that consider a holistic approach are often conducted by pharmaceutical companies and patient organisations exploring a specific disease area but are not necessarily visible in the literature and could benefit from the sharing of standards and best practices.
罕见病是一类严重、慢性、退行性且往往危及生命的疾病，在欧洲影响着超过3000万人。其影响常常未得到充分报道，范围涵盖严重影响生活质量的心理和身体症状。因此，有必要整合关于罕见病对经济、社会和生活质量影响的知识。本范围综述是对专家进行9次定性访谈以及按照PRISMA方法对疾病成本（COI）研究和生活质量（QoL）研究进行文献检索的结果。还纳入了灰色文献以补充研究结果。结果。检索到63项疾病成本研究，涵盖42种疾病，其中绝大多数采用基于患病率的方法（94%）。所有研究都包括医疗成本，60%包括非医疗成本，68%包括生产力损失，43%包括非正式护理成本。检索到56项关于生活质量的研究，大多来自欧洲，使用30种不同的测量工具。灰色文献包括制药行业和患者组织的调查。大多数评估罕见病对个人和社会影响的研究采用疾病成本方法，大多从社会角度进行。研究范围往往各不相同，难以整合或比较结果。虽然医疗成本和生产力损失始终被纳入，但生活质量方面在疾病成本研究中很少被考虑，通常通过通用工具进行测量。缺乏一项关于欧洲各国罕见病影响的综合研究。现有研究在范围和方法上存在异质性，往往缺乏对罕见病影响的整体认识。因此，需要在各国和各种疾病的标准和方法上达成共识。考虑采用整体方法的研究通常由制药公司和患者组织针对特定疾病领域开展，但不一定在文献中可见，可能会受益于标准和最佳实践的分享。
