Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO

Hakim, Alan J.; Tinkle, Brad T.; Francomano, Clair A.

doi:10.1002/ajmg.c.31954

Cited by 37Connective tissue disorders researchMusculoskeletal pain and rehabilitationEosinophilic Disorders and Syndromes

Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO

Hakim, Alan J., Tinkle, Brad T., Francomano, Clair A.·2021·American Journal of Medical Genetics Part C: Seminars in Medical Genetics

DOI 10.1002/ajmg.c.31954

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Abstract

In both community care and across a broad range of hospital specialties, many healthcare professionals (nurses, midwives, physical and other therapists, psychologists, and doctors) will likely attend to people with Ehlers–Danlos syndromes (EDS) or hypermobility spectrum disorders (HSD). The belief that EDS is rare or ultra-rare is true for several forms of the syndrome, but increasingly the hypermobile type of EDS (hEDS) is thought more common, and HSD (a population previously described within joint hypermobility syndrome prior to the 2017 nosology changes; Castori et al., 2017; Tinkle et al., 2017) much more common. Together the prevalence of hEDS and HSD is likely greater than 1 in 500 in the general population (Demmler et al., 2019), and a common presentation in general musculoskeletal clinics (Grahame & Hakim, 2006). Yet often the journey to diagnosis and treatment is challenging for patients, who may receive no diagnosis, or misdiagnoses. In addition, misconceptions that the issues are solely mental health concerns are commonly reported. Too often there is more than a decade delay in diagnosis, and the negative impact on quality of life from living with under-managed disease is significant (Bell & Pearce, 2021; Berglund, Pettersson, Pigg, & Kristiansson, 2015; Castori, Camerota, Celletti, Grammatico, & Padua, 2010; Demmler et al., 2019; Mu et al., 2019). Multiple morbidities can arise from structural pathologies throughout the body in EDS. These pathologies include musculoskeletal, dermatological, neurological, ocular, oro-dental, laryngeal, pulmonary, gastrointestinal, vascular, and uro-gynecological disorders. Symptoms of chronic widespread pain and chronic fatigue are almost universal (Hakim et al., 2020; Schubart, Schaefer, Hakim, Francomano, & Bascom, 2019). The phenotype, in part, depends on the type of EDS, but features can overlap between them, most clearly seen in the musculoskeletal system and skin, for example. These pathologies have been well documented and are increasingly understood through the determination of their molecular genetics and the ensuing abnormalities of collagens and other molecules of the extracellular matrix (Malfait et al., 2017). In HSD, the principal structural morbidity is in the musculoskeletal system, sharing similar concerns to EDS in presenting with joint instability, ease of joint injury, musculoskeletal, and neuropathic pain, and chronic fatigue (Castori et al., 2017). In addition, several co-morbidities are associated with EDS and HSD. These include disorders of autonomic function, gastrointestinal function, neurodevelopment, mental health, and inflammation and systemic manifestations of mast cell activation. In 2017, alongside the new criteria for EDS and the framework for diagnosing HSD, the International Consortium on the EDS and HSD published a series of review articles exploring what was known of the associations and management of many of these co-morbidities in these conditions (Tinkle, Malfait, Francomano, & Byers, 2017). These and more areas of health concern continue to be explored. Recent large population and registry data affirm their high prevalence in EDS and HSD (Boris & Bernadzikowski, 2021; Cederlöf et al., 2016; Demmler et al., 2019; Hakim et al., 2020; Ritelli, Venturini, Cinquina, Chiarelli, & Colombi, 2020; Schubart et al., 2019), and reports also describe similar severity of co-morbidities in hEDS and HSD (Aubry-Rozier et al., 2021; Copetti et al., 2019; Hakim, 2019). With substantial growth in knowledge in the field, keeping up to date with advances in epidemiology, pathophysiology, and management of this heterogeneous group of conditions is challenging. No individual healthcare professional can truly manage all aspects of these conditions at an expert level. Care typically requires a holistic and multidisciplinary approach. Yet such care, ideally embedded in the community, supported by subspecialty medical, therapies, and social care (Whitty et al., 2020) is substantially lacking for EDS and HSD internationally. Currently, there are small numbers of expert clinics, centers, and networks striving to support patients and colleagues. Access to care is profoundly limited, yet management of many of the common concerns is well within the ability of most generalists with specialist support when needed. Recognizing the exponential growth in knowledge, the multifaceted challenges faced by healthcare systems internationally, and the need for greater numbers of healthcare professionals to feel informed and confident in the diagnosis and management of EDS and HSD, the Ehlers-Danlos Society in 2019 established EDS ECHO, an affiliate of Project ECHO® (Project ECHO, 2021; The Ehlers-Danlos Society, 2021). Project ECHO's philosophies include "all teach, all learn" and "move knowledge, not people." The ECHO model primarily seeks to increase access to care. Embracing this, EDS ECHO has established several programs for healthcare professionals and for commu

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The prevalence of HSD/hEDS is estimated to be greater than 1:500.
“Using this definition, it is estimated that the prevalence of HSD/hEDS is greater than 1:500.”
From Hypermobile Ehlers–Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know (2022) · cites this paper as [20]
Further healthcare professional training is available through EDS Society (EDS ECHO), established 2019 with evidence for improved outcomes and physician confidence.
“Further healthcare professional training is available through EDS Society (EDS ECHO), established 2019 with evidence for improved outcomes and physician confidence 20”
From Hypermobile Ehlers–Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know (2022) · cites this paper as [20]

The 2017 international classification of the Ehlers–Danlos syndromes
Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31552 · Cited by 1,936 · see citing works
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A framework for the classification of joint hypermobility and related conditions
Castori, M., Tinkle, B., Levy, H., Grahame, R., Malfait, F., & Hakim, A. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31539 · Cited by 602 · see citing works
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Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31538 · Cited by 499 · see citing works
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Whitty, C. W. M., MacEwen, C. J., Goddard, A. F., Alderson, D., Marshall, M., Calderwood, C. J., Atherton, F., McBride, M., Atherton, J., Stokes-Lampard, H. J., et al. (2020) · BMJ · doi:10.1136/bmj.l6964 · Cited by 349 · see citing works
Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison
Demmler, J. C., Atkinson, M. D., Reinhold, E. J., Choy, E., Lyons, R. A., & Brophy, S. T. (2019) · BMJ Open · doi:10.1136/bmjopen-2019-031365 · Cited by 271 · see citing works
Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings
Cederlöf, M., Larsson, H., Lichtenstein, P., Almqvist, C., Serlachius, E., & Ludvigsson, J. F. (2016) · BMC Psychiatry · doi:10.1186/s12888-016-0922-6 · Cited by 142 · see citing works
Self-reported quality of life, anxiety and depression in individuals with Ehlers-Danlos syndrome (EDS): a questionnaire study
Berglund, B., Pettersson, C., Pigg, M., & Kristiansson, P. (2015) · BMC Musculoskeletal Disorders · doi:10.1186/s12891-015-0549-7 · Cited by 89 · see citing works
Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders
Mu, W., Muriello, M., Clemens, J. L., Wang, Y., Smith, C. H., Tran, P. T., Rowe, P. C., Francomano, C. A., Kline, A. D., & Bodurtha, J. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61055 · Cited by 71 · see citing works
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Aubry-Rozier, B., Schwitzguebel, A., Valerio, F., Tanniger, J., Paquier, C., Berna, C., Hügle, T., & Benaim, C. (2021) · Rheumatology International · doi:10.1007/s00296-021-04968-3 · Cited by 66 · see citing works
Severity classes in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients
Copetti, M., Morlino, S., Colombi, M., Grammatico, P., Fontana, A., & Castori, M. (2019) · Rheumatology · doi:10.1093/rheumatology/kez029 · Cited by 55 · see citing works
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
Ritelli, M., Venturini, M., Cinquina, V., Chiarelli, N., & Colombi, M. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01470-0 · Cited by 47 · see citing works
Quality of life in the classic and hypermobility types of Elhers‐Danlos syndrome
Castori, M., Camerota, F., Celletti, C., Grammatico, P., & Padua, L. (2009) · Annals of Neurology · doi:10.1002/ana.21934 · Cited by 46 · see citing works
Prevalence of joint hypermobility syndromes in pediatric postural orthostatic tachycardia syndrome
Boris, J. R., & Bernadzikowski, T. (2021) · Autonomic Neuroscience · doi:10.1016/j.autneu.2020.102770 · Cited by 27 · see citing works
Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population
Schubart, J. R., Schaefer, É., Hakim, A. J., Francomano, C. A., & Bascom, R. (2019) · Journal of Pain and Symptom Management · doi:10.1016/j.jpainsymman.2019.05.013 · Cited by 24 · see citing works
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Hakim, A. J. (2019) · Lara D. Veeken · doi:10.1093/rheumatology/kez134 · Cited by 7 · see citing works
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Thwaites, P. A., Gibson, P. R., & Burgell, R. E. (2022) · Journal of Gastroenterology and Hepatology · doi:10.1111/jgh.15927 · Cited by 59 · see citing works
International Perspectives on Joint Hypermobility
Nicholson, L. L., Simmonds, J. V., Pacey, V., Wandele, I. D., Rombaut, L., Williams, C., & Chan, C. L. (2022) · JCR Journal of Clinical Rheumatology · doi:10.1097/rhu.0000000000001864 · Cited by 42 · see citing works
Physical therapy interventions in generalized hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome: a scoping review
Brittain, M. G., Flanagan, S., Foreman, L., & Teran-Wodzinski, P. C. (2023) · Disability and Rehabilitation · doi:10.1080/09638288.2023.2216028 · Cited by 23 · see citing works
Bridging the Diagnostic Gap for Hypermobile Ehlers‐Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker
Ritelli, M., Chiarelli, N., Cinquina, V., Bertini, V., Piantoni, S., Caproli, A., Pina, S. E. L. D., Franceschini, F., Zarattini, G., Gandy, W., et al. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63857 · Cited by 23 · see citing works
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center
Ritelli, M., Chiarelli, N., Cinquina, V., Vezzoli, M., Venturini, M., & Colombi, M. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63426 · Cited by 22 · see citing works
Respiratory manifestations in the Ehlers–Danlos syndromes
Bascom, R., Dhingra, R., & Francomano, C. A. (2021) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31953 · Cited by 19 · see citing works
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Clinical characteristics of patients with hypermobile type Ehlers–Danlos syndrome (hEDS) and generalized hypermobility spectrum disorders (G-HSD): an online survey
Teran-Wodzinski, P. C., & Kumar, A. (2023) · Rheumatology International · doi:10.1007/s00296-023-05378-3 · Cited by 20 · see citing works
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms
Ritelli, M., Chiarelli, N., Cinquina, V., Zoppi, N., Bertini, V., Venturini, M., & Colombi, M. (2022) · Cells · doi:10.3390/cells11244040 · Cited by 19 · see citing works
Is joint hypermobility linked to self-reported non-recovery from COVID-19? Case–control evidence from the British COVID Symptom Study Biobank
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Patient experience of chronic illness care and complementary integrative health use: a cross-sectional study of patients with hypermobility spectrum disorders (HSD) and Ehlers–Danlos syndromes (EDS)
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Lack of Diversity in Research on Females with Ehlers-Danlos Syndromes: Recruitment Protocol for a Quantitative Online Survey
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Anderson, L. K., & Lane, K. R. (2021) · MOspace Institutional Repository (University of Missouri)
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Authors: Hakim, A. J., Tinkle, B. T., & Francomano, C. A.
Affiliations: The Wellington Hospital (GB)
Peyton Manning Children’s Hospital at St.Vincent (US)
Indiana University Indianapolis (US)
Corresponding author: Hakim, Alan J.
ORCID: Hakim, Alan J.
Tinkle, Brad T.
Francomano, Clair A.
Venue: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Publisher: Wiley
Published: 2021-11-18
Volume: 187
Issue: 4
Pages: 413-415
ISSN: 1552-4868 (ISSN-L)
1552-4876
DOI: 10.1002/ajmg.c.31954
OpenAlex: W3213629736
Cited by: 37
References: 17
Citations by year: 2026: 5 · 2025: 6 · 2024: 14 · 2023: 5 · 2022: 4 · 2021: 3
FWCI: 3.68
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Health Sciences › Medicine › Pharmacology › Musculoskeletal pain and rehabilitation
Health Sciences › Medicine › Rheumatology › Eosinophilic Disorders and Syndromes
Keywords: Ehlers-Danlos syndrome, hypermobility spectrum disorders, hypermobile Ehlers-Danlos syndrome, comorbidities, chronic widespread pain, chronic fatigue, delayed diagnosis, misdiagnosis, quality of life, musculoskeletal disorders, skin involvement, neurological disorders, eye diseases, molecular genetics, disease classification, multidisciplinary care
MeSH terms: Ehlers-Danlos Syndrome, Humans, Joint Instability, Morbidity, Comorbidity, Databases, Genetic

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Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO

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