探索马凡综合征和高活动型埃勒斯-当洛综合征中的疲劳：在两个意大利医疗中心开展的一项分析性横断面研究。

Exploring fatigue in Marfan and hypermobile Ehlers-Danlos syndromes: an analytical cross-sectional study in two Italian healthcare centres.

作者信息

Udugampolage Nathasha, Taurino Jacopo, Bassotti Alessandra, Pini Alessandro, Caruso Rosario, Callus Edward, Magon Arianna, Conte Gianluca, De Angeli Giada, Paglione Giulia, Baroni Irene, Trifirò Giuliana

机构信息

Cardiovascular Genetic Centre, IRCCS Policlinico San Donato, San Donato Milanese, Italy.

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Roma, Italy.

出版信息

BMJ Open. 2025 Jan 6;15(1):e087298. doi: 10.1136/bmjopen-2024-087298.

DOI:10.1136/bmjopen-2024-087298

PMID:39762099

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11749496/

Abstract

OBJECTIVE

This study investigates the prevalence and underlying factors of fatigue in individuals with Marfan syndrome (MFS) and hypermobile Ehlers-Danlos syndromes (hEDS), highlighting the necessity for focused research on this symptom within these patient populations.

DESIGN

Cross-sectional, multicentre study.

SETTING

Data were collected from participants diagnosed with MFS or hEDS across multiple healthcare centres.

PARTICIPANTS

The study enrolled 282 participants (127 with MFS and 155 with hEDS).

PRIMARY AND SECONDARY OUTCOME MEASURES

Fatigue was measured using the Fatigue Severity Scale (FSS). Additional assessments included the Patient Health Questionnaire-9 (PHQ-9) for depression and the Insomnia Severity Index (ISI) for sleep disturbances.

RESULTS

Participants with hEDS exhibited significantly higher median fatigue scores (FSS median=5.9, IQR=5.00-6.44) compared with the MFS group (FSS median=4.0, IQR=2.88-5.00). Significant predictors of fatigue included being female, having hEDS, participating in psychotherapy, and elevated scores on depression and insomnia scales. In the overall sample, hEDS significantly predicted fatigue (B=0.430, p=0.022), with depression and insomnia as strong influencers (PHQ-9: B=0.12, p<0.001; ISI: B=0.092, p<0.001). Notably, 80% of the hEDS group reported clinically relevant fatigue levels, compared with 31.5% in the MFS group. Daily persistence of fatigue was especially pronounced in hEDS, with 72.2% reporting everyday fatigue versus 25.2% in MFS. Temporal fatigue patterns also differed, with a more evenly distributed pattern throughout the day in hEDS, correlating with higher insomnia scores.

CONCLUSIONS

The results underscore the severe impact of fatigue on individuals with hEDS compared with those with MFS, suggesting the need for targeted, multidisciplinary management strategies to enhance quality of life.

TRIAL REGISTRATION NUMBER

NCT05712564.

摘要

目的

本研究调查马凡综合征（MFS）和高活动型埃勒斯-当洛综合征（hEDS）患者疲劳的患病率及潜在因素，强调在这些患者群体中针对该症状进行专项研究的必要性。

设计

横断面多中心研究。

背景

数据收集自多个医疗中心诊断为MFS或hEDS的参与者。

参与者

本研究招募了282名参与者（127名MFS患者和155名hEDS患者）。

主要和次要结局指标

使用疲劳严重程度量表（FSS）测量疲劳。额外评估包括用于评估抑郁的患者健康问卷-9（PHQ-9）和用于评估睡眠障碍的失眠严重程度指数（ISI）。

结果

与MFS组（FSS中位数=4.0，四分位间距=2.88-5.00）相比，hEDS患者的疲劳评分中位数显著更高（FSS中位数=5.9，四分位间距=5.00-6.44）。疲劳的显著预测因素包括女性、患有hEDS、接受心理治疗以及抑郁和失眠量表得分升高。在总体样本中，hEDS显著预测疲劳（B=0.430，p=0.022），抑郁和失眠是强有力的影响因素（PHQ-9：B=0.12，p<0.001；ISI：B=0.092，p<0.001）。值得注意的是，80%的hEDS组报告有临床相关的疲劳水平，而MFS组为31.5%。疲劳在hEDS中每日持续存在的情况尤为明显，72.2%的人报告每天都感到疲劳，而MFS组为25.2%。疲劳的时间模式也有所不同，hEDS患者全天分布更为均匀，与更高的失眠评分相关。