The prevalence and impact of orthostatic intolerance in young women across the hypermobility spectrum
Open accessAbstract
Orthostatic intolerance (OI) is frequently reported in young women with generalized hypermobility spectrum disorder (G‐HSD) and hypermobile EDS (hEDS). However, it remains currently unclear whether OI is a comorbidity or fundamental part of the pathophysiology of G‐HSD or hEDS. This study investigated the prevalence and impact of OI in young women across the hypermobility spectrum. Forty‐five women (14–30 years, 15 controls, 15 G‐HSD, and 15 hEDS) undertook a head‐up tilt (HUT) and active stand test. Postural Orthostatic Tachycardia Syndrome (POTS) and Orthostatic Hypotension (OH) were assessed using age‐related criteria. Autonomic dysfunction and quality‐of‐life questionnaires were also completed. The prevalence of POTS was higher in women with G‐HSD than hEDS and control groups during HUT (43% vs. 7% and 7%, respectively, p < 0.05), but similar between groups during the active stand (47%, 27%, and 13% for G‐HSD, hEDS, and control, respectively). No participants had OH. hEDS and G‐HSD participants reported more severe orthostatic symptoms and poorer quality of life than controls. Although POTS was observed in hypermobile participants, there is no conclusive evidence that its prevalence differed between groups due to differences between the HUT and active stand assessments. Nevertheless, OI and broader autonomic dysfunction impacted on their quality of life.
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Adolescents and young adults with G-HSD and hEDS demonstrate worse symptoms and more disability associated with orthostatic intolerance than their non-hypermobile age and gender matched peers.
“Adolescents and young adults with G-HSD and hEDS demonstrate worse symptoms and more disability associated with orthostatic intolerance than their non-hypermobile age and gender matched peers [51].”
From Pediatric joint hypermobility: a diagnostic framework and narrative review (2023) · cites this paper as [51]
There is growing recognition of an association between autonomic dysfunction and hEDS/HSD.
“There is growing recognition of an association between autonomic dysfunction and hEDS/HSD and the group agreed it is an important comorbidity, commonly presenting as Postural Orthostatic Tachycardia Syndrome (POTS) in older children.”
From Pediatric joint hypermobility: a diagnostic framework and narrative review (2023) · cites this paper as [51]
Dysautonomia occurs in up to 75% of patients with HSDs.
“Dysautonomia (up to 75%)”
From Hypermobility spectrum disorders: A review (2023) · cites this paper as [39]
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References 53 · Cited by 14
- Authors
- Peebles, K. C., Tan, I., Butlin, M., Collins, F., Tofts, L., Avolio, A. P., & Pacey, V.
- Affiliations
- Macquarie University (AU)
- Royal Prince Alfred Hospital (AU)
- Corresponding author
- Peebles, Karen C.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2022-02-27
- Volume
- 188
- Issue
- 6
- Pages
- 1761-1776
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC9305471
- OpenAlex
- W4214769263
- Cited by
- 14
- References
- 53
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 4 · 2023: 5
- FWCI
- 2.63
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- American Journal of Medical Genetics Part A (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Cardiovascular Syncope and Autonomic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Heart Rate Variability and Autonomic Control
- Keywords
- orthostatic intolerance, postural orthostatic tachycardia syndrome, orthostatic hypotension, hypermobile Ehlers-Danlos syndrome, autonomic dysfunction, quality of life, young women, head-up tilt, prevalence
- MeSH terms
- Ehlers-Danlos Syndrome, Female, Humans, Joint Instability, Quality of Life, Prevalence, Orthostatic Intolerance, Postural Orthostatic Tachycardia Syndrome
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