Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels, Belgium.
Member of the European Reference Network for Rare, Low Prevalence, and/or Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, The Netherlands.
Eur J Hum Genet. 2024 Jun;32(6):607-618. doi: 10.1038/s41431-023-01510-w. Epub 2023 Dec 14.
Patient-reported outcome measures (PROMs) are used to facilitate patient-centered care (PCC). While studies in patients with cardiac conditions have revealed poorer health-related quality of life (HRQoL) and elevated emotional stress, studies in inherited cardiac conditions (ICC) seem rare. A systematic review evaluated which (specific domains of) PROMs are used in patients with ICC. From three databases (PubMed, PsychINFO, and Web of Science) quantitative studies investigating PROMs in patients with ICC were included. A Cochrane-based assessment tool was used to evaluate quality and potential risk of bias per subdomain. Data from 17 eligible articles were extracted. Among the included studies, risk of bias was predominantly high (35%) or unclear (30%). Most (n = 14) studies used a generic health status measure (SF-36, SF-12); 3 studies used a disease-specific PROM (KCCQ- cardiomyopathy and MLFHQ-heart failure). In addition to HRQoL measures, several studies used affective psychological measures (i.e., HADS, CAQ-18, IES-R, and IPQ). The mental health component of the PROMs showed lower scores overall in patients with ICC compared to population norms. Nine studies using HADS and GAD-7/PHQ-9 showed a prevalence of clinically significant anxiety (17-47%) and depression levels (8.3-28%) that were higher than the population norm (8.3% and 6.3%, respectively). HRQoL in patients with ICC is primarily assessed with generic PROMs. Results further confirmed high psychological morbidity in this population. Generic PROMS measures evaluate overall health status, but lack sensitivity to ICC-specific factors like heredity-related concerns. We propose developing a PROM specific for ICC to optimize PCC.
患者报告的结局测量(PROMs)用于促进以患者为中心的医疗(PCC)。虽然心脏疾病患者的研究显示出较差的健康相关生活质量(HRQoL)和升高的情绪压力,但遗传性心脏疾病(ICC)的研究似乎很少。一项系统评价评估了哪些(特定领域的)PROMs 用于 ICC 患者。从三个数据库(PubMed、PsychINFO 和 Web of Science)中纳入了调查 ICC 患者 PROMs 的定量研究。使用基于 Cochrane 的评估工具评估每个子领域的质量和潜在偏差风险。从 17 篇合格文章中提取数据。在纳入的研究中,偏差风险主要较高(35%)或不明确(30%)。大多数(n=14)研究使用了通用健康状况衡量标准(SF-36、SF-12);3 项研究使用了特定于疾病的 PROM(KCCQ-心肌病和 MLFHQ-心力衰竭)。除了 HRQoL 衡量标准外,几项研究还使用了情感心理衡量标准(即 HADS、CAQ-18、IES-R 和 IPQ)。与人口正常值相比,ICC 患者的 PROM 精神健康成分总体得分较低。使用 HADS 和 GAD-7/PHQ-9 的 9 项研究显示出临床上显著的焦虑(17-47%)和抑郁水平(8.3-28%)高于人口正常值(分别为 8.3%和 6.3%)。ICC 患者的 HRQoL 主要使用通用 PROM 进行评估。结果进一步证实了该人群中较高的心理发病率。通用 PROMS 衡量标准评估总体健康状况,但缺乏对 ICC 特异性因素(如遗传性相关问题)的敏感性。我们建议开发特定于 ICC 的 PROM,以优化 PCC。
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