ArticleGenetics in medicine open2023
Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome.
Article in Genetics in medicine open, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed.
- HOPE for Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD)-A Pilot Randomised Controlled Trial of Feasibility, Acceptability and Appropriateness.European journal of pain (London, England) · 2025Trial
- Computable Phenotype for Identifying Undiagnosed Hypermobile Ehlers-Danlos Syndrome: Protocol for a Development and Validation Study.JMIR research protocols · 2026Article
- Diagnostic strategies, test accuracy, and misdiagnosis of POTS: a narrative review of diagnostic criteria, tests, and diagnostic delay.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2026Review
- Article
- Age-related symptom clustering in pediatric hypermobility spectrum disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- Restraints on Personal Utility in Genomic Testing.The American journal of bioethics : AJOB · 2026Article
- Grounding large language models in clinical diagnostics.Nature communications · 2026Article
- Health experiences and outcomes of autistic and non-autistic adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder.BMC medicine · 2026Article
- Prevalence and management of mental health comorbidities in a German cohort of patients with Ehlers-Danlos syndromes and a generalized hypermobility spectrum disorder.Orphanet journal of rare diseases · 2026Article
- Sources and consequences of self-doubt in patients with Ehlers-Danlos syndrome: a qualitative study in Europe and North America.BMJ open · 2025Article
- Complex Genetics and Regulatory Drivers of Hypermobile Ehlers-Danlos Syndrome: Insights from Genome-Wide Association Study Meta-analysis.medRxiv : the preprint server for health sciences · 2025Article
- Health care supply in patients with Ehlers-Danlos syndromes and generalized hypermobility spectrum disorder: a German perspective.Orphanet journal of rare diseases · 2025Article
- The Contradictions in the Criteria for Diagnosing Hypermobile Ehlers-Danlos Syndrome as Reflecting Some of the Philosophical Debates about the Threshold between the Normal and the Pathological.The Journal of medicine and philosophy · 2025Article
- Depressive symptoms are highly prevalent and associated with fatigue and pain catastrophizing in the Hypermobility Spectrum Disorders and hypermobile Ehlers Danlos syndrome: a cross-sectional study.Rheumatology international · 2025Article
- Mitochondrial Dysfunction and Its Potential Molecular Interplay in Hypermobile Ehlers-Danlos Syndrome: A Scoping Review Bridging Cellular Energetics and Genetic Pathways.Current issues in molecular biology · 2025Review
- Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic.Orphanet journal of rare diseases · 2025Article
- The Complexities of Navigating the Healthcare System as an Autistic Individual with Ehlers-Danlos Syndrome: A Patient Perspective.Journal of patient experience · 2025Article
- Observational
- Chronic Pain and Joint Hypermobility: A Brief Diagnostic Review for Clinicians and the Potential Application of Infrared Thermography in Screening Hypermobile Inflamed Joints.The Yale journal of biology and medicine · 2024Review
- Social media use by patients with hypermobile Ehlers-Danlos syndrome.Molecular genetics & genomic medicine · 2024Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: The extent of comorbidity and misdiagnosis had been unclear for patients with hypermobile Ehlers-Danlos Syndrome (hEDS), a hereditary connective tissue disorder. The objectives of the study were to (1) describe the prevalence of alternative diagnoses that these patients have received, (2) assess their endorsement and rejection of these diagnoses, and (3) characterize their experience on their "diagnostic odysseys." Methods: We circulated a survey through the Ehlers-Danlos Society's Global Registry, asking participants which diagnoses they had received and whether they believed they were still accurate. They were also asked questions about their experience while seeking a diagnosis. Descriptive statistics and consensus clustering were then conducted. Results: A total of 505 unique individuals with clinically confirmed hEDS completed the survey. The average number of alternative diagnoses was 10.45. Anxiety, depression, and migraines were the most common. However, the diagnoses with the greatest endorsement were postural orthostatic tachycardia syndrome, cervical instability, and mast cell activation syndrome. The diagnoses with the greatest rejection were functional neurologic disorders, multiple sclerosis, and fibromyalgia. The average time to diagnosis was 10.39 years. Conclusion: An appropriate hEDS diagnosis is complex and its presentation multisystemic. Health care providers should be aware of the specific phenotypes to improve the time to diagnosis and care.
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