Exploring fatigue in Marfan and hypermobile Ehlers-Danlos syndromes: an analytical cross-sectional study in two Italian healthcare centres
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, multic...
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BMJ Publishing Group
2025-01-01
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| Series: | BMJ Open |
| Online Access: | https://bmjopen.bmj.com/content/15/1/e087298.full |
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| author | Rosario Caruso Alessandro Pini Gianluca Conte Arianna Magon Irene Baroni Edward Callus Nathasha Udugampolage Jacopo Taurino Alessandra Bassotti Giada De Angeli Giulia Paglione Giuliana Trifirò |
| author_facet | Rosario Caruso Alessandro Pini Gianluca Conte Arianna Magon Irene Baroni Edward Callus Nathasha Udugampolage Jacopo Taurino Alessandra Bassotti Giada De Angeli Giulia Paglione Giuliana Trifirò |
| author_sort | Rosario Caruso |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-35f16f3e3f4246098cda0838a948c30b |
| institution | Kabale University |
| issn | 2044-6055 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMJ Publishing Group |
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| series | BMJ Open |
| spelling | doaj-art-35f16f3e3f4246098cda0838a948c30b2025-01-07T07:20:09ZengBMJ Publishing GroupBMJ Open2044-60552025-01-0115110.1136/bmjopen-2024-087298Exploring fatigue in Marfan and hypermobile Ehlers-Danlos syndromes: an analytical cross-sectional study in two Italian healthcare centresRosario Caruso0Alessandro Pini1Gianluca Conte2Arianna Magon3Irene Baroni4Edward Callus5Nathasha Udugampolage6Jacopo Taurino7Alessandra Bassotti8Giada De Angeli9Giulia Paglione10Giuliana Trifirò114 Department of Biomedical Sciences for Health, University of Milan, Milano, Italy1 Cardiovascular Genetic Centre, IRCCS Policlinico San Donato, San Donato Milanese, Italy5 Health Professions Research and Development Unit, IRCCS Policlinico San Donato, San Donato Milanese, Italy5 Health Professions Research and Development Unit, IRCCS Policlinico San Donato, San Donato Milanese, Italy5 Health Professions Research and Development Unit, IRCCS Policlinico San Donato, San Donato Milanese, Italy4 Department of Biomedical Sciences for Health, University of Milan, Milano, Italy1 Cardiovascular Genetic Centre, IRCCS Policlinico San Donato, San Donato Milanese, Italy1 Cardiovascular Genetic Centre, IRCCS Policlinico San Donato, San Donato Milanese, Italy3 Regional Center of Ehlers-Danlos Syndrome, Fondazione IRCCS Ca` Granda Ospedale Maggiore Policlinico, Milan, Italy5 Health Professions Research and Development Unit, IRCCS Policlinico San Donato, San Donato Milanese, Italy5 Health Professions Research and Development Unit, IRCCS Policlinico San Donato, San Donato Milanese, Italy3 Regional Center of Ehlers-Danlos Syndrome, Fondazione IRCCS Ca` Granda Ospedale Maggiore Policlinico, Milan, ItalyObjective 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.https://bmjopen.bmj.com/content/15/1/e087298.full |
| spellingShingle | Rosario Caruso Alessandro Pini Gianluca Conte Arianna Magon Irene Baroni Edward Callus Nathasha Udugampolage Jacopo Taurino Alessandra Bassotti Giada De Angeli Giulia Paglione Giuliana Trifirò Exploring fatigue in Marfan and hypermobile Ehlers-Danlos syndromes: an analytical cross-sectional study in two Italian healthcare centres BMJ Open |
| title | Exploring fatigue in Marfan and hypermobile Ehlers-Danlos syndromes: an analytical cross-sectional study in two Italian healthcare centres |
| title_full | Exploring fatigue in Marfan and hypermobile Ehlers-Danlos syndromes: an analytical cross-sectional study in two Italian healthcare centres |
| title_fullStr | Exploring fatigue in Marfan and hypermobile Ehlers-Danlos syndromes: an analytical cross-sectional study in two Italian healthcare centres |
| title_full_unstemmed | Exploring fatigue in Marfan and hypermobile Ehlers-Danlos syndromes: an analytical cross-sectional study in two Italian healthcare centres |
| title_short | Exploring fatigue in Marfan and hypermobile Ehlers-Danlos syndromes: an analytical cross-sectional study in two Italian healthcare centres |
| title_sort | exploring fatigue in marfan and hypermobile ehlers danlos syndromes an analytical cross sectional study in two italian healthcare centres |
| url | https://bmjopen.bmj.com/content/15/1/e087298.full |
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