Cited by 89Connective tissue disorders researchMusculoskeletal pain and rehabilitationGenomics and Rare Diseases

Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos Syndrome

De Wandele, Inge, Rombaut, Lies, Malfait, Fransiska, De Backer, Tine, De Paepe, Anne, Calders, Patrick·2013·Research in Developmental Disabilities

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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Crossref · 10.1016/j.ridd.2012.11.018

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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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