Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos Syndrome
Abstract
EDS-HT is a connective tissue disorder characterized by large inter-individual differences in the clinical presentation, complicating diagnosis and treatment. We aim to describe the clinical heterogeneity and to investigate whether differences in the symptom profile are also reflected as disparity in functional impairment and pain experience. In this study, 78 patients were asked to describe their symptoms due to EDS-HT. Next, a hierarchical cluster analysis was performed using the Jaccard measure of similarity to assess whether subgroups could be distinguished based on the symptoms reported. This analysis yielded 3 clusters of participants with distinct complaint profiles. The key differences were found in the domain of non-musculoskeletal complaints, which was significantly larger in cluster 2. Furthermore, cluster 2 was characterized by a worse physical and psychosocial health, a higher pain severity and a larger pain interference in daily life. The results emphasize that non-musculoskeletal symptoms are an important complication of EDS-HT, as the number of these complaints was found to be a significant predictor for both functional health status (SIP) and pain experience (MPI). In conclusion, this study confirms that EDS-HT is a heterogeneous entity and encourages the clinician to be more aware of the large variety of EDS-HT symptoms, in order to improve disease recognition and to establish more tailored treatment strategies.
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Polypharmacy is prevalent, with an average of three medications per patient reported and chronic opiate use seen in over one third of HSD/hEDS patients.
“Polypharmacy is also prevalent, with an average of three medications per patient reported and chronic opiate use seen in over one third of HSD/hEDS patients. 12”
From Hypermobile Ehlers–Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know (2022) · cites this paper as [12]
Up to 92% of HSD/hEDS respondents in one study reported regular medication use of which analgesics were the most common.
“Up to 92% of HSD/hEDS respondents in one study reported regular medication use of which analgesics were the most common. 12”
From Hypermobile Ehlers–Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know (2022) · cites this paper as [12]
In a cohort of 78 h-EDS patients, self-reported GI symptoms such as motility dysfunction, bloating, and swallowing problems clustered with cardiovascular symptoms such as POTS and other orthostatic intolerance.
“In a cohort of patients with h-EDS (N=78), De Wandele et al. using self-reported questionnaires described that GI symptoms such as motility dysfunction, bloating and swallowing problems clustered with cardiovascular symptoms such as POTS and other forms of orthostatic intolerance [18] .”
From Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review (2018) · cites this paper as [18]
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- Authors
- De Wandele, I., Rombaut, L., Malfait, F., De Backer, T., De Paepe, A., & Calders, P.
- Affiliations
- Ghent University (BE)
- Ghent University Hospital (BE)
- Venue
- Research in Developmental Disabilities
- Publisher
- Elsevier BV
- Published
- 2013-03
- Volume
- 34
- Issue
- 3
- Pages
- 873-881
- ISSN
- 0891-4222 (ISSN-L)
- OpenAlex
- W2117263737
- Cited by
- 89
- References
- 33
- Citations by year
- 2026: 2 · 2025: 8 · 2024: 6 · 2023: 3 · 2022: 7 · 2021: 13 · 2020: 9 · 2019: 4 · 2018: 3 · 2017: 8 · 2016: 10 · 2015: 9 · 2014: 5 · 2013: 2
- FWCI
- 5.74
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Research in Developmental Disabilities (publishedVersion)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Pharmacology › Musculoskeletal pain and rehabilitation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- clinical heterogeneity, symptom profiles, pain intensity, pain interference, functional status, psychosocial health, connective tissue diseases, patient subgroups
- MeSH terms
- Adolescent, Adult, Aged, Ehlers-Danlos Syndrome, Fatigue, Female, Gastrointestinal Diseases, Humans, Male, Middle Aged, Pain, Pain Measurement, Regression Analysis, Skin Diseases, Cluster Analysis, Sickness Impact Profile, Orthostatic Intolerance, Young Adult
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