Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history

Tinkle, Brad T.; Castori, Marco; Berglund, Bo; Cohen, Helen; Grahame, Rodney; Kazkaz, Hanadi; Levy, Howard P.

doi:10.1002/ajmg.c.31538

Cited by 370 publications

(406 citation statements)

References 222 publications

(301 reference statements)

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“…In conclusion, co‐occurrence of VWD and EDS is rare; JH is more often diagnosed with VWD compared to EDS. With expanding classification and emphasis on genetic diagnosis, hematologists should become familiar with manifestations of JH as recently described and have a low threshold for evaluation by geneticists. Though EDS is still primarily a clinical diagnosis, we believe that with advanced genetic techniques the paradigm is shifting toward molecular confirmation for all subtypes except hEDS.…”

Section: Discussionmentioning

confidence: 99%

Clinical features of children, adolescents, and adults with coexisting hypermobility syndromes and von Willebrand disease

Hall

Meier

Gupta

et al. 2018

Pediatric Blood & Cancer

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We present five patients with coexistent von Willebrand disease (VWD) and Ehlers-Danlos syndrome and 21 with VWD and joint hypermobility. Females outnumbered males ten to three, Beighton scores were documented in 58% (15 of 26 patients), and several patients experienced moderately severe bleeding. We believe coexistent hypermobility disorder with VWD potentially affects bleeding severity and want to raise awareness among hematologists. Evaluation by geneticists is recommended because of the varying complexities observed across the disease spectrum, and the availability of new genetic tests should lead to more accurate diagnoses for the various hypermobility disorders.

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Section: Discussionmentioning

confidence: 99%

Clinical features of children, adolescents, and adults with coexisting hypermobility syndromes and von Willebrand disease

Hall

Meier

Gupta

et al. 2018

Pediatric Blood & Cancer

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“…In these studies the criteria to build the subgroups were based on further anamnestic information, e.g. psychosocial health and non-musculoskeletal symptoms [2,11]. Thus, the advantage in our study is that the grouping was based on observations during six months.…”

Section: Discussionmentioning

confidence: 99%

“…This score measures only the range of motion in several joints. For further research it would be important to use the new published criteria to have a more specific tool to detect JHS [11].…”

Section: Discussionmentioning

confidence: 99%

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Symptoms in Daily Life and Activity Level of Women with and without Hypermobility

Christine¹,

Luder

Schmid³

et al. 2018

Rheumatology

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Objective: Generalized Joint Hypermobility (GJH) is defined as a condition in which several joints move beyond their normal limits. It seems to be associated with musculoskeletal disorders, pain, reduced activity level in sports and reduced strength. The aim of the current study was to record specific problems and disorders of hypermobile women and to build subgroups based on these results. As a second objective, the study aimed to identify differences in activity level between these subgroups.Methods: A total of 195 women were included in this exploratory study: 67 normomobile (NM) and 128 hypermobile. Of these, 56 were classified as hypermobile with symptoms and 47 as hypermobile without symptoms. Symptoms were first recorded with the Canadian Occupational Performance Measure (COPM) and then monthly over a period of 6 months with a face validated questionnaire including general impairment, localization, type, intensity and frequency of problems. Activity level was determined by the International Physical Activity Questionnaire.Results: On the COPM there was no significant difference between patients in the NM and HM groups. The face validated questionnaire identified the most important problem to be pain in different localizations after remaining in one position for too long. The highest activity level was found in the HM group (p=0.021). Conclusion:Hypermobile women are active for longer during the day than women with normal mobility, but the type and degree of activity needs further evaluation. More detailed recording of symptoms in women with GJH is required to identify the discrete differences between the groups. To build subgroups in GJH the procedure of screening has to be more comprehensive. Widespread pain and level of activity are aspects that have to be included in the holistic approach to the management of patients with GJH.

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“…Children and adolescents with EDS were eligible for enrolment if they had a confirmed diagnosis of EDS according to the Villefranche diagnostic criteria [1] or, if applicable, objectively confirmed by gene analysis, pathological electron microscopic results, abnormal biochemical collagen findings, or altered urinary pyridinoline crosslink formation as previously reported by Gaisl et al [4]. As the study was carried out between April 2015 and December 2016, EDS patients were not diagnosed according to the newest guidelines published in 2017, and nomenclature in this study was used accordingly [18]. EDS patients were matched to healthy controls one-to-one according to sex, age (±1.5 years), ethnicity, and nutritional status based on BMI z -score (severe thinness, thinness, normal weight, overweight, and obesity [19]).…”

Section: Methodsmentioning

confidence: 99%

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome

et al. 2018

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Background: In Ehlers-Danlos syndrome (EDS), a group of monogenic disorders affecting connective tissues, obstructive sleep apnoea (OSA) is highly prevalent in adults. The prevalence of OSA in children with EDS is unknown. Objectives: This prospective cross-sectional study aimed at determining the prevalence of OSA in paediatric EDS patients. Methods: Children with EDS (n = 24) were recruited from the Children’s Hospital Zurich and matched to healthy controls. Participants completed home respiratory polygraphy and questionnaires (Sleep-Related Breathing Disorder Scale [SRBD], Epworth Sleepiness Scale [ESS], and Child Health Questionnaire [CHQ]). The American Academy of Sleep Medicine criteria were applied for OSA diagnosis (obstructive apnoea-hypopnoea index [oAHI] ≥1/h). Conditional logistic regression was used to compare the prevalence of OSA and to adjust for possible confounding. Results: OSA was found in 42% of paediatric EDS patients and in 13% of matched controls (OR = 4.5, 95% CI = 0.97–20.83, p = 0.054). The median oAHI was higher in EDS patients than in controls (0.77/h, IQR = 0.19–1.76, vs. 0.24/h, IQR = 0.0–0.60, p < 0.001 adjusted for age, sex, and BMI z-score). EDS patients had lower scores in most CHQ scales and higher SRBD and ESS scores than controls (0.26, IQR = 0.1–0.35, vs. 0.07, IQR = 0–0.19, p = 0.004); 7 ± 4 vs. 5 ± 4, p = 0.033, respectively). Conclusion: OSA is a previously underestimated EDS-related complication increasing disease burden.

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Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history

Cited by 370 publications

References 222 publications

Clinical features of children, adolescents, and adults with coexisting hypermobility syndromes and von Willebrand disease

Clinical features of children, adolescents, and adults with coexisting hypermobility syndromes and von Willebrand disease

Symptoms in Daily Life and Activity Level of Women with and without Hypermobility

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome

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