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

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

doi:10.1002/ajmg.c.31954

Cited by 19 publications

(13 citation statements)

References 17 publications

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“…hEDS and HSD are not limited to JHM and its complaints but are similar complex conditions with wide-ranging systemic (co)morbidities not implemented in the diagnostic criteria, the recognition of which is however crucial for management as they are central determining factors of patients’ reduced quality of life [ 2 , 4 , 6 ]. The variable and heterogenous phenotypic presentation of either hEDS or HSD, even within single families in which these “labels” often cosegregate, makes a “one-size-fits-all” approach to make a diagnosis very challenging to endorse [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

“…For a forthcoming nosological revision, the multisystemic (co)morbidities to be included and their order of importance should rely on literature data and future clinical research, keeping in mind that they are also frequent in other EDS types and HCTDs [ 4 , 6 , 24 ]. Future clinical research essential to support clinical diagnosis should also focus on proper practices, methods, and questionnaires for evaluating gJHM including its assessment outside the BS [ 2 , 27 , 30 ].…”

Section: Discussionmentioning

confidence: 99%

“…Besides obvious consequences of JHM complications, both hEDS and HSD patients show numerous extra-articular manifestations not comprised in the current nosology. These JHM-associated comorbidities include chronic fatigue, pelvic floor problems, bladder dysfunction, increased susceptibility to osteoarthritis, various dysautonomic features (e.g., postural orthostatic tachycardia syndrome, gastrointestinal dysfunction), alterations of the immune system, headache/migraine, sleep disorders, behavioral disturbances, and psychological distress [ 1 , 2 , 3 , 4 , 5 , 6 ]. After the publication of the updated diagnostic criteria, several authors raised serious doubts about their limits, and it is still debated if hEDS and HSD are distinct clinical entities rather than part of a phenotypic spectrum that require a similar pattern of multidisciplinary intervention [ 7 , 8 , 9 , 10 , 11 , 12 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

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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

Chiarelli

Cinquina

et al. 2022

Cells

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Hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are clinically overlapping connective tissue disorders of unknown etiology and without any validated diagnostic biomarker and specific therapies. Herein, we in-depth characterized the cellular phenotype and gene expression profile of hEDS and HSD dermal fibroblasts by immunofluorescence, amplicon-based RNA-seq, and qPCR. We demonstrated that both cell types show a common cellular trait, i.e., generalized extracellular matrix (ECM) disarray, myofibroblast differentiation, and dysregulated gene expression. Functional enrichment and pathway analyses clustered gene expression changes in different biological networks are likely relevant for the disease pathophysiology. Specifically, the complex gene expression dysregulation (mainly involving growth factors, structural ECM components, ECM-modifying enzymes, cytoskeletal proteins, and different signal transducers), is expected to perturb many ECM-related processes including cell adhesion, migration, proliferation, and differentiation. Based on these findings, we propose a disease model in which an unbalanced ECM remodeling triggers a vicious cycle with a synergistic contribution of ECM degradation products and proinflammatory mediators leading to a functional impairment of different connective tissues reflecting the multisystemic presentation of hEDS/HSD patients. Our results offer many promising clues for translational research aimed to define molecular bases, diagnostic biomarkers, and specific therapies for these challenging connective tissue disorders.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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

Chiarelli

Cinquina

et al. 2022

Cells

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“…It is acknowledged that this will introduce some phenotypic and genotypic heterogeneity. Using this definition, it is estimated that the prevalence of HSD/hEDS is greater than 1:500 20 …”

Section: Terminology and Diagnostic Criteriamentioning

confidence: 99%

Hypermobile Ehlers–Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know

Thwaites

Gibson

Burgell

2022

J of Gastro and Hepatol

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“… 74 Based on a population study of health care records in Wales, 75 the prevalence of JHS, likely a combination of those currently diagnosed with hEDS and G-HSD, is 1 in 500 to 600. 76 Of the 13 types of EDSs, hEDS is the most common accounting for greater than 95% of all EDS presentations to specialist clinics. 77 The conditions G-HSD and hEDS share many clinical characteristics, including GJH, joint instability, and widespread chronic pain, all of which are included in the criteria for both diagnoses ( https://www.ehlers-danlos.com/heds-diagnostic-checklist ).…”

Section: G-hsd and Hedsmentioning

confidence: 99%

International Perspectives on Joint Hypermobility

et al. 2022

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There is exponential clinical and research interest in joint hypermobility due to recognition of the complexity of identification, assessment, and its appropriate referral pathways, ultimately impacting management. This state-of-the-science review provides an international, multidisciplinary perspective on the presentation, etiology, and assessment of joint hypermobility, as it presents in those with and without a systemic condition. We synthesize the literature, propose standardizing the use of terminology and outcome measures, and suggest potential management directions. The major topics covered are (i) historical perspectives; (ii) current definitions of hypermobility, laxity, and instability; (iii) inheritance and acquisition of hypermobility; (iv) traditional and novel assessments; (v) strengths and limitations of current assessment tools; (vi) age, sex, and racial considerations; (vii) phenotypic presentations; (viii) generalized hypermobility spectrum disorder and hypermobility Ehlers-Danlos syndrome; and (ix) clinical implications and research directions. A thorough understanding of these topics will equip the reader seeking to manage individuals presenting with joint hypermobility, while mindful of its etiology. Management of generalized joint hypermobility in the context of a complex, multisystem condition will differ from that of acquired hypermobility commonly seen in performing artists, specific athletic populations, posttrauma, and so on. In addition, people with symptomatic hypermobility present predominantly with musculoskeletal symptoms and sometimes systemic symptoms including fatigue, orthostatic intolerance, and gastrointestinal or genitourinary issues. Some also display skeletal deformities, tissue and skin fragility, and structural vascular or cardiac differences, and these warrant further medical follow-up. This comprehensive review on the full spectrum of joint hypermobility will assist clinicians, coaches/ sports trainers, educators, and/or researchers in this area.

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

Cited by 19 publications

References 17 publications

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

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

Hypermobile Ehlers–Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know

International Perspectives on Joint Hypermobility

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