Gourdin Alice, Oudin Doglioni Damien, Dannoune Michalina, Astié Mélanie, Hamelin Fanny, Monnier Sébastien, Makowski Caroline, Gay Marie-Claire
Laboratoire Interuniversitaire de Psychologie/Personnalité, Cognition, Changement Social (LIP/PC2S), Univ. Grenoble Alpes, Univ. Savoie Mont Blanc, Grenoble, France.
Centre de Compétence Filière Santé Maladies Rares MCGRE « Maladies Constitutionnelles du Globule Rouge et de L'Erythropoïèse », Médecine Interne, Maladies Infectieuses et Tropicales, CH de Versailles, Le Chesnay, France.
Orphanet J Rare Dis. 2025 Sep 3;20(1):475. doi: 10.1186/s13023-025-03961-4.
Sickle cell disease (SCD) is a chronic inherited blood disorder caused by abnormal haemoglobin production, affecting over seven million people worldwide. Although pain-particularly acute bone pain-is the hallmark symptom of this disease, fatigue is also a commonly observed manifestation. Fatigue is a debilitating symptom in Sickle Cell Disease (SCD) that significantly impacts quality of life. Accurate assessment of fatigue is crucial for effective disease management. However, a comprehensive analysis of fatigue assessment tools in SCD research is lacking.
This systematic literature review aims to identify and evaluate self-reported psychometric measures of fatigue used in SCD research with children, adolescents, young adults and adults.
A systematic search was conducted across six databases from 2010 to March 2024. The main inclusion criteria included peer-reviewed journal articles, patients with all SCD genotypes, studies evaluating fatigue using a self-reported psychometric measure, and studies published in English or French. The PRISMA guidelines were followed for study selection and data extraction.
Twenty-eight studies met the inclusion criteria, reporting on 16 psychometric measures of fatigue. The most frequently used tool was the PROMIS system. Nine dimensions of fatigue were identified, including general, physical, mental, cognitive, emotional fatigue, and its impact on motivation, activity, vigour, and sleep/rest. However, the definitions of these dimensions were often unclear. Reported fatigue scores are not directly comparable due to methodological issues and variability in the assessment used. These methodological issues limit our knowledge on the prevalence of fatigue in SCD.
The lack of a standardised fatigue assessment tool in SCD research hinders direct comparison of fatigue scores across studies. Future research should prioritise the development of a tailored assessment tool for SCD, considering the specific dimensions of fatigue relevant to this population. In the interim, clinicians and researchers can employ a combination of multidimensional and unidimensional tools to gain a more comprehensive understanding of patients' fatigue experiences.
镰状细胞病（SCD）是一种由异常血红蛋白生成引起的慢性遗传性血液疾病，全球有超过700万人受其影响。虽然疼痛——尤其是急性骨痛——是这种疾病的标志性症状，但疲劳也是常见的表现。疲劳是镰状细胞病（SCD）中一种使人衰弱的症状，会显著影响生活质量。准确评估疲劳对于有效管理疾病至关重要。然而，目前缺乏对SCD研究中疲劳评估工具的全面分析。
本系统文献综述旨在识别和评估在儿童、青少年、青年和成人SCD研究中使用的自我报告疲劳心理测量方法。
2010年至2024年3月期间，在六个数据库中进行了系统检索。主要纳入标准包括同行评审的期刊文章、所有SCD基因型的患者、使用自我报告心理测量方法评估疲劳的研究，以及以英语或法语发表的研究。研究选择和数据提取遵循PRISMA指南。
28项研究符合纳入标准，报告了16种疲劳心理测量方法。最常用的工具是PROMIS系统。确定了九个疲劳维度，包括一般疲劳、身体疲劳、精神疲劳、认知疲劳、情绪疲劳及其对动机、活动、活力和睡眠/休息的影响。然而，这些维度的定义往往不明确。由于方法学问题和所用评估的变异性，报告的疲劳分数无法直接比较。这些方法学问题限制了我们对SCD中疲劳患病率的了解。
SCD研究中缺乏标准化的疲劳评估工具阻碍了跨研究对疲劳分数的直接比较。未来的研究应优先为SCD开发量身定制的评估工具，考虑与该人群相关的特定疲劳维度。在此期间，临床医生和研究人员可以采用多维和单维工具相结合的方法，以更全面地了解患者的疲劳体验。
