Ehlers-Danlos syndromes: state of the art on clinical practice guidelines
Open accessAbstract
Objective: To report the effort of the European Reference Network for Rare and Complex CONnective tissue and musculoskeletal diseases NETwork working group on Ehlers-Danlos syndromes (EDS) and related disorders to assess current available clinical practice guidelines (CPGs) specifically addressed to EDS, in order to identify potential clinician and patient unmet needs. Methods: Systematic literature search in PUBMED and EMBASE based on controlled terms (MeSH and Emtree) and keywords of the disease and publication type (CPGs). All the published articles were revised in order to identify existing CPGs on diagnosis, monitoring and treatment of EDS. Results: Literature revision detected the absence of papers reporting good quality CPGs to optimise EDS patient care. The current evidence-based literature regarding clinical guidelines for the EDS was limited in size and quality, and there is insufficient research exploring the clinical features and interventions, and clinical decision-making are currently based on theoretical and limited research evidences. Conclusions: Many clinician and patient unmet needs have been identified.
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Patient partners have been recognized as important contributors to developing psychosocial treatment options in EDS, but their expertise has not been leveraged to date.
“patient partners have been previously recognized as important contributors to developing (psychosocial) treatment options in EDS, but their expertise has not been leveraged to date [34].”
From Psychological interventions for individuals with Ehlers-Danlos syndrome and hypermobility spectrum disorder: a scoping review (2023) · cites this paper as [34]
In ‘Patients’ unmet needs’ (page not specified), the review identifies patients and patient organisations as partners in addressing unmet EDS needs and notes that psychological care is sometimes needed. It does not specifically propose patient partners as contributors to developing psychosocial treatments or say that their expertise has not yet been leveraged. (LLM, conf=0.84)
Experimental — accuracy not yet measuredThere is a lack of high-quality clinical guidelines for managing the psychosocial complexities associated with pain in EDS, limiting evidence-based practice.
“there is a lack of high-quality clinical guidelines for managing the psychosocial complexities associated with pain in EDS, limiting evidence-based practice [34].”
From Psychological interventions for individuals with Ehlers-Danlos syndrome and hypermobility spectrum disorder: a scoping review (2023) · cites this paper as [34]
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- Authors
- Sulli, A., Talarico, R., Scirè, C. A., Avcin, T., Castori, M., Ferraris, A., Frank, C., Grunert, J., Paolino, S., Bombardieri, S., Schneider, M., Smith, V., Cutolo, M., Mosca, M., & Malfait, F.
- Affiliations
- Ospedale Policlinico San Martino (IT)
- University of Pisa (IT)
- University of Ferrara (IT)
- Department of Allergology, Rheumatology and Clinical Immunology, Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
- Casa Sollievo della Sofferenza (IT)
- Azienda Ospedaliera San Camillo-Forlanini (IT)
- Flemish Association for Hereditary Connective Tissue Disorders, Brussels, Belgium
- Deutsche Ehlers-Danlos Initiative e.V., Furth, Germany
- Heinrich Heine University Düsseldorf (DE)
- Ghent University Hospital (BE)
- Corresponding author
- Sulli, Alberto
- ORCID
- Venue
- RMD Open
- Publisher
- BMJ
- Published
- 2018-10
- Volume
- 4
- Issue
- Suppl 1
- Pages
- e000790
- ISSN
- 2056-5933 (ISSN-L)
- PMC
- PMC6203099
- OpenAlex
- W2897213718
- Cited by
- 44
- References
- 31
- Citations by year
- 2026: 5 · 2025: 3 · 2024: 11 · 2023: 4 · 2022: 9 · 2021: 2 · 2020: 7 · 2019: 3
- Type
- conference abstract
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc
- Locations
- RMD Open (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- BOA (University of Milano-Bicocca) (submittedVersion, cc-by-nc)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion, cc-by-nc)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion)
- CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion, other-oa)
- Institutional Research Information System University of Ferrara (University of Ferrara) (submittedVersion, cc-by-nc)
- Funders
- Consumers, Health, Agriculture and Food Executive Agency
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Clinical practice guidelines implementation
- Health Sciences › Health Professions › General Health Professions › Health Sciences Research and Education
- Keywords
- Ehlers-Danlos syndrome, guideline quality, unmet needs, diagnosis, monitoring, treatment, connective tissue diseases, musculoskeletal disorders, European Reference Networks
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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