Respiratory Manifestations and Their Physical, Psychological, and Social Impacts in Ehlers-Danlos Syndromes and Generalized Hypermobility Spectrum Disorders: A Narrative Review

Noor Al Kaabi^{1

2

3}, Encarna Camacho¹, Ani Orchanian-Cheff⁴, Vanessa Silano¹, Laura McGillis³, Wing Ting Truong³, W Darlene Reid^{5

6

7}, Chung-Wai Chow^{1

2}, Clodagh M Ryan^{1

5}, Maxwell Slepian³, Daniel Santa Mina^{3

8

9}, Hance Clarke^{2

3

9}, Nimish Mittal^{2

3

8}, Dmitry Rozenberg^{1

2

3}

Affiliations

¹ Division of Respirology, University Health Network, Toronto, ON M5G 2C4, Canada.
² Temerty Faculty of Medicine, University of Toronto, Toronto, ON M5R 0A3, Canada.
³ GoodHope Ehlers-Danlos Syndrome Program, University Health Network, Toronto, ON M5G 2C4, Canada.
⁴ Library and Information Services, University Health Network, Toronto, ON M5G 2C4, Canada.
⁵ KITE-Toronto Rehab, University Health Network, Toronto, ON M5G 2C4, Canada.
⁶ Department of Physical Therapy, University of Toronto, Toronto, ON M5G 1V7, Canada.
⁷ Interdepartmental Division of Critical Care Medicine, University of Toronto, Toronto, ON M5R 0A3, Canada.
⁸ Faculty of Kinesiology and Physical Education, University of Toronto, Toronto, ON M5R 0A3, Canada.
⁹ Department of Anesthesia and Pain Management, University Health Network, Toronto, ON M5R 0A3, Canada.

PMID: 40565873
PMCID: PMC12194458
DOI: 10.3390/jcm14124126

Review

Respiratory Manifestations and Their Physical, Psychological, and Social Impacts in Ehlers-Danlos Syndromes and Generalized Hypermobility Spectrum Disorders: A Narrative Review

Noor Al Kaabi et al. J Clin Med. 2025.

. 2025 Jun 11;14(12):4126.

doi: 10.3390/jcm14124126.

Authors

Affiliations

¹ Division of Respirology, University Health Network, Toronto, ON M5G 2C4, Canada.
² Temerty Faculty of Medicine, University of Toronto, Toronto, ON M5R 0A3, Canada.
³ GoodHope Ehlers-Danlos Syndrome Program, University Health Network, Toronto, ON M5G 2C4, Canada.
⁴ Library and Information Services, University Health Network, Toronto, ON M5G 2C4, Canada.
⁵ KITE-Toronto Rehab, University Health Network, Toronto, ON M5G 2C4, Canada.
⁶ Department of Physical Therapy, University of Toronto, Toronto, ON M5G 1V7, Canada.
⁷ Interdepartmental Division of Critical Care Medicine, University of Toronto, Toronto, ON M5R 0A3, Canada.
⁸ Faculty of Kinesiology and Physical Education, University of Toronto, Toronto, ON M5R 0A3, Canada.
⁹ Department of Anesthesia and Pain Management, University Health Network, Toronto, ON M5R 0A3, Canada.

PMID: 40565873
PMCID: PMC12194458
DOI: 10.3390/jcm14124126

Abstract

Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobility Spectrum disorders (G-HSD) are a group of genetic, connective multi-systemic disorders that can affect the musculoskeletal, gastrointestinal, cardiovascular, and respiratory systems. Respiratory manifestations in EDS/G-HSD can contribute to decrements in health-related quality of life (HRQL); however, these relationships have not been previously characterized. We aimed to review the association of respiratory manifestations with the physical, psychological, and social domains of HRQL in EDS/G-HSD. A comprehensive search was conducted using Ovid Medline, Embase, and CINAHL with the following terms: "Ehlers-Danlos Syndrome", "Hypermobility Spectrum Disorders", and "Quality of Life". Selected studies in English that investigated the relationship between respiratory manifestations and HRQL domains in EDS/G-HSD were included in this narrative review from inception to March 2024. Twelve studies described the physical, psychological, or social domains of HRQL relating to respiratory manifestations. Dyspnea, wheezing, and expiratory flow limitations were associated with limitations in physical function and exercise intolerance. Respiratory manifestations were associated with increased fatigue, pain, anxiety, kinesiophobia, and deconditioning. This review highlights the consequences that respiratory manifestations have on the physical domains of HRQL, through limitations on physical activity and exercise. Future studies should aim to identify the impact that respiratory manifestations have on the psychosocial domains of HRQL and develop disease-specific patient-reported measures to evaluate these relationships.

Keywords: Ehlers-Danlos syndromes; health-related quality of life; patient-reported outcome measures; respiratory; signs and symptoms.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

**Figure 1**
Physical, psychological, and social impact of respiratory manifestations in EDS/G-HSD. Conceptual diagram of the biopsychosocial model of health as proposed by Engel [32].

See this image and copyright information in PMC

References

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Respiratory Manifestations and Their Physical, Psychological, and Social Impacts in Ehlers-Danlos Syndromes and Generalized Hypermobility Spectrum Disorders: A Narrative Review

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Respiratory Manifestations and Their Physical, Psychological, and Social Impacts in Ehlers-Danlos Syndromes and Generalized Hypermobility Spectrum Disorders: A Narrative Review

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Abstract

Conflict of interest statement

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References

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