Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers–Danlos syndrome

Søborg, Mogens; Leganger, Julie; Mortensen, L.; Rosenberg, Jacob; Burcharth, Jakob

doi:10.1093/rheumatology/kew478

Cited by 23 publications

(24 citation statements)

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“…Thus, these syndromes have long been categorised as rare diseases, defined in the European Union as those affecting fewer than 50 in 100 000 people 3. Kulas Søborg et al 4 recently reported a prevalence of 20 per 100 000 for EDS in a nationwide Danish cohort based on secondary healthcare data up to 2012, but importantly, this data did not include patients who had received the considerably more common joint hypermobility syndrome (JHS) diagnosis, now included in the latest revised classification. It is possible to extrapolate a combined population prevalence figure for JHS and EDS for Sweden5 of around 120 per 100 000 from a study focusing on comorbid mental health issues, but no investigators have thus far set out to investigate the combined diagnosed prevalence of JHS/EDS within a population.…”

Section: Introductionmentioning

confidence: 99%

Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison

et al. 2019

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ObjectivesTo describe the epidemiology of diagnosed hypermobility spectrum disorder (HSD) and Ehlers-Danlos syndromes (EDS) using linked electronic medical records. To examine whether these conditions remain rare and primarily affect the musculoskeletal system.DesignNationwide linked electronic cohort and nested case–control study.SettingRoutinely collected data from primary care and hospital admissions in Wales, UK.ParticipantsPeople within the primary care or hospital data systems with a coded diagnosis of EDS or joint hypermobility syndrome (JHS) between 1 July 1990 and 30 June 2017.Main outcome measuresCombined prevalence of JHS and EDS in Wales. Additional diagnosis and prescription data in those diagnosed with EDS or JHS compared with matched controls.ResultsWe found 6021 individuals (men: 30%, women: 70%) with a diagnostic code of either EDS or JHS. This gives a diagnosed point prevalence of 194.2 per 100 000 in 2016/2017 or roughly 10 cases in a practice of 5000 patients. There was a pronounced gender difference of 8.5 years (95% CI: 7.70 to 9.22) in the mean age at diagnosis. EDS or JHS was not only associated with high odds for other musculoskeletal diagnoses and drug prescriptions but also with significantly higher odds of a diagnosis in other disease categories (eg, mental health, nervous and digestive systems) and higher odds of a prescription in most disease categories (eg, gastrointestinal and cardiovascular drugs) within the 12 months before and after the first recorded diagnosis.ConclusionsEDS and JHS (since March 2017 classified as EDS or HSD) have historically been considered rare diseases only affecting the musculoskeletal system and soft tissues. These data demonstrate that both these assertions should be reconsidered.

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Section: Introductionmentioning

confidence: 99%

Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison

et al. 2019

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“…Airway volume was then calculated in the program using the designated tool. Volume was measured in cm 3 . The minimum cross-sectional area was determined by scrolling from superior to inferior margin in the axial plane until the smallest measurement was encountered [18,19].…”

Section: Journal Of Oral and Maxillofacial Researchmentioning

confidence: 99%

Craniofacial Morphology and Upper Airway Dimensions in Patients with Hypermobile Ehlers-Danlos Syndrome Compared to Healthy Controls

Sonnesen

Pawlik

Lauridsen

2021

JOMR

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Objectives:The aims of the present case-control study were to compare craniofacial morphology, airway minimum crosssectional area and airway volume between patients with hypermobile Ehlers-Danlos syndrome and healthy controls. Material and Methods: The sample comprised 18 hypermobile Ehlers-Danlos syndrome (hEDS) patients (16 females, 2 males, mean age 34.1 [SD 10.35] years), clinically diagnosed and genetically tested in order to exclude other types of EDS, and 16 controls (14 females, 2 males, mean age 37.9 [SD 10.87] years) with neutral occlusion and normal craniofacial morphology. Craniofacial morphology was assessed on lateral cephalograms. Minimum cross-sectional area and upper airway volume were assessed on cone-beam computed tomography and analysed by standard and well-validated methods. Differences were tested by logistic regression analysis adjusted for age, gender and body mass index (BMI). Results: No significant differences in craniofacial morphology were found between hEDS patients and controls. Airway minimum cross-sectional area (P = 0.019) and airway volume (P = 0.044) were significantly smaller in hEDS patients compared to controls. When adjusted for age, gender and BMI no significant differences were found. However, minimum cross-sectional area was almost significant (P = 0.077). Conclusions: The craniofacial morphology and airway dimensions of hypermobile Ehlers-Danlos syndrome patients were comparable to controls, with a tendency towards a smaller minimum cross-sectional area in the hypermobile Ehlers-Danlos syndrome group. The results may prove valuable for understanding the effect of hypermobile Ehlers-Danlos syndrome on craniofacial morphology and the upper airways.

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“…The Ehlers‐Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility . The estimated prevalence of Ehlers‐Danlos syndrome is 1/5000, and the hypermobile EDS subtype (hEDS) is the most frequent . EDS is caused by mutations in genes involved in collagen structure and/or biosynthesis, but the underlying pathophysiological mechanism is still not fully understood .…”

Section: Introductionmentioning

confidence: 99%

Oro‐dental characteristics in patients with hypermobile Ehlers‐Danlos Syndrome compared to a healthy control group

Honoré

Lauridsen

Sonnesen

2019

J of Oral Rehabilitation

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The Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. 1 The estimated prevalence of Ehlers-Danlos syndrome is 1/5000, and the hypermobile EDS subtype (hEDS) is the most frequent. 2 EDS is caused by mutations in genes involved in collagen structure and/or biosynthesis, but the underlying pathophysiological mechanism is still not fully understood. 1 The clinical and genetic heterogeneity of the EDS has long been recognised, and currently, EDS is classified into thirteen subtypes according to the 2017 Abstract Background: Ehlers-Danlos syndrome (EDS) is a hereditary disorder that affects the connective tissue and collagen structures in the body characterised by joint hypermobility, skin hyperextensibility and tissue fragility.Objective: The aim of the study was to investigate the oro-dental characteristics including measurements of tooth size of 26 patients with hypermobile EDS (hEDS), differentiated by a genetic test, compared to 39 healthy controls. Methods: Interview, clinical and radiological examination on panoramic radiograph and cone-beam computed tomographic (CBCT) scan were performed. Statistical analyses included Fisher's exact test, paired t test and multiple logistic and linear models adjusted for age and gender.Results: The experience of xerostomia (P = 0.039), local anaesthetic insufficiency (P < 0.001) and tooth extraction complications (P < 0.003) were significantly higher in hEDS compared to controls. The debris index was significantly higher in hEDS (P < 0.001), and the distance between the cement-enamel junction (CEJ) and the bone level on the upper left first incisor and molar and the lower right first molar was significantly larger in hEDS compared to controls (P = 0.021, P = 0.024, P = 0.021, respectively). The crown heights of the upper and lower first incisors were significantly smaller (P = 0.001, P = 0.003, P = 0.002, P < 0.001, respectively) in hEDS compared to controls. When adjusting for debris index, only the distance between CEJ and the marginal bone level on the upper left and lower right molar was associated with hEDS. Conclusion:The results indicate that xerostomia, resistance to local anaesthesia, tooth extraction complications, poor oral hygiene, larger distance between CEJ and marginal bone level and small crown heights can be found in patients with hEDS.

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Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers–Danlos syndrome

Cited by 23 publications

References 24 publications

Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison

Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison

Craniofacial Morphology and Upper Airway Dimensions in Patients with Hypermobile Ehlers-Danlos Syndrome Compared to Healthy Controls

Oro‐dental characteristics in patients with hypermobile Ehlers‐Danlos Syndrome compared to a healthy control group

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