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In 2017 a revised clinical criterion for the diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS) was proposed in order to better distinguish hEDS from other joint hypermobility disorders which are termed hypermobility spectrum disorders (HSD). The goal of this study was to determine whether patients with localized HSD (L-HSD) or historical HSD (H-HSD) differed in 100 symptoms/comorbidities from controls and/or patients diagnosed with hEDS or HSD. In this study, we examined 100 self-reported symptoms/comorbidities from 2,695 patients diagnosed with hEDS, HSD, L-HSD/H-HSD, or controls. From November 1, 2019, to August 27, 2024, 2,695 patients filled out an Intake Questionnaire at the Mayo Clinic Florida EDS Clinic. Using the 2017 diagnostic criterion, 60.6% ( = 1,632) of patients were diagnosed with HSD, 18.3% ( = 493) hEDS, 10.7% ( = 289) with L-HSD or H-HSD, and 10.4% ( = 281) were controls without any of these diagnoses. We found that patients with L-HSD/H-HSD self-reported significantly more symptoms/comorbidities than controls for 62/100 (62%) of issues compared to 58/100 (58%) for HSD and 20/100 (20%) for hEDS. These findings suggest that L-HSD/H-HSD share similar symptoms and comorbidities to HSD. Interestingly, patients with L-HSD/H-HSD self-reported significantly more symptoms/comorbidities than patients diagnosed with hEDS or HSD for 20/100 (20%) of issues such as joint pain, muscle weakness, multiple sensitivities, wheezing/shortness of breath, gastroesophageal reflux disease (GERD), pain/cramps in the lower abdomen, constipation, heat and/or cold intolerance, hearing difficulties, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), snoring, and narcolepsy. Symptoms/comorbidities that were significantly increased in L-HSD/H-HSD patients compared to controls (but not in hEDS or HSD compared to controls) and so were specific to this diagnosis included wheezing, hearing difficulties, narcolepsy, circadian rhythm disorders, and ASD. We found that patients with L-HSD/H-HSD had many symptoms and comorbidities that closely resembled HSD suggesting that revised diagnostic criteria for hEDS and HSD should include L-HSD/H-HSD within a diagnosis of HSD. Additionally, our data further suggest that patients with HSD (including L-HSD/H-HSD) have more symptoms/comorbidities than patients with hEDS.

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.

To examine the perspective of individuals with Hypermobile Ehlers–Danlos Syndrome (hEDS) and Generalized Hypermobility Spectrum Disorder (G-HSD), needed to help identify priorities and improve the lives of people living with these conditions. We conducted an online survey between November 2021 and January 2023. Participants were recruited through the Ehlers-Danlos Society’s Research Surveys website. We obtained 483 responses and 396 were analyzed. 80% of the survey’s respondents were individuals with hEDS, 90% were females, 30% were between 21 and 30, and 76% lived in North America, with 85% of the participants living in North America indicated being White or European American. Participants reported exercising from none to less than three times per week, with no physical therapy treatment. Ninety-eight percent of participants reported pain mainly at the neck (76%), lower (76%) and upper back (66%), knees (64%), shoulders (60%), and hips (60%). Approximately 80% of participants reported fatigue, joint hypermobility, joint instability, interference with daily activities, gastrointestinal problems, orthostatic hypotension, muscle weakness, and emotional distress. About 60% of respondents indicated walking issues, balance issues, and reduced joint proprioception. Nearly 40% of participants reported pelvic floor dysfunction and cardiovascular problems. Participants with hEDS and G-HSD reported pain on an average (SD) of 6.4 (± 1.3) and 5.9 (± 1.5) days in a typical week, respectively. People with hEDS and G-HSD desperately need more effective treatment options, a better diagnostic process, and education among health care providers.

Objective The objective of this study was to examine mental health comorbidities and their management in individuals living in Germany with generalized symptomatic hypermobility, including Ehlers-Danlos Syndromes (EDS) and generalized hypermobility spectrum disorder (G-HSD). Methods We conducted a descriptive cross-sectional study at the EDS outpatient service, University Hospital of Cologne, Germany. A standardized self-report form was sent to all adults who were diagnosed with hypermobile EDS (hEDS), classical EDS (cEDS), classical-like EDS (clEDS) or G-HSD from December 2021 until May 2023. Participants completed an ad-hoc standardized, pseudonymized paper-based self- report form developed ad hoc for this study as along with the following validated instruments: the PHQ-9 (Personal Health Questionnaire with 9 items) and DASS (Depression Anxiety Stress Scales) regarding depression, stress, and anxiety, and the corresponding modules of the PHQ-D (Personal Health Questionnaire, German version) regarding eating disorders and alcohol abuse. Results A total of 132 participants were included, of whom 99 completed the questionnaire. Overall, 85% of respondents reported experiencing a moderate to severe mental burden due to EDS/G-HSD. Self-reported lifetime prevalence of mental health diagnoses was 58.6%, with depression, posttraumatic stress disorder (PTSD) and anxiety disorders being the most common ones. 27.3% indicated at least two mental health disorders. The prevalence of symptom severity scores above the clinical cut-off of depression was 60.2% (according to the PHQ-9) and that of anxiety disorders was 45.4% (according to the DASS). Despite 68.7% of participants having received psychotherapy, our findings suggest that mental health conditions were probably underdiagnosed and likely undertreated in our patients. Conclusion This is the first study examining mental health comorbidities in patients with EDS/G-HSD living in Germany. It adds to the growing body of evidence indicating that mental health disorders, particularly depression and anxiety, are highly prevalent in EDS, regardless of the subtype. Our survey also provides increased prevalence data for PTSD and eating disorders as well as data on the use of psychotherapy and antidepressants in EDS/G-HSD. There is a critical need for improved diagnostic pathways and treatment strategies that prioritize a multidisciplinary biopsychosocial approach in the care of these patients.

Paulina Bruessel,1,* Mogeshni Govender,2,* Gert Frahm-Jensen1 1Department of Vascular Surgery, The Canberra Hospital, Canberra, ACT, Australia; 2Department of Rheumatology, The Canberra Hospital, Canberra, ACT, Australia*These authors contributed equally to this workCorrespondence: Paulina Bruessel, The Canberra Hospital, Yamba Drive, Garran, ACT, 2605, Australia, Email Paulina.Bruessel@act.gov.auObjective: Abdominopelvic Vascular Compression Syndrome(s) (VCS) are rare disorders with diverse symptoms that appear to occur more frequently in patients with Ehlers–Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD). The reported associations between EDS/HSD, Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS) further complicate the diagnosis and management of the VCS in this specific patient population. This review summarises the established literature on this complex topic, highlighting these relationships, with the aim to propose a framework for recognising and managing VCS among patients with EDS/HSD. Given the limited body of literature on this topic, we also aim to underscore the need for further research within this specific patient population.Methods: A PRISMA-guided systematic review was conducted using PubMed and Ovid/Medline databases. VCS included Median Arcuate Ligament Syndrome (MALS), Superior Mesenteric Artery Syndrome (SMAS), Nutcracker Syndrome (NCS), and May–Thurner Syndrome (MTS). Given the limited number of studies, small cohort studies and case reports/series were also reviewed.Results: Of 183 screened studies, 62 met the inclusion criteria. Only six studies directly addressed the VCS in EDS/HSD. Five discussed an EDS–POTS association, two described links between MCAS, POTS, and EDS, and five associated POTS with VCS. Only one study explored all four conditions.Conclusion: Evidence suggests an association between EDS/HSD, VCS, POTS, and MCAS but remains limited. Underdiagnosis and delayed treatment are common and underscore the need for multi-disciplinary care. Invasive imaging and interventions appear generally safe in EDS/HSD, excluding vascular EDS, yet robust safety and outcome data and tailored diagnostic or treatment algorithms are lacking and require further investigation.Keywords: Ehlers–Danlos syndrome, EDS, hypermobility spectrum disorder, HSD, median arcuate ligament syndrome, MALS, mast cell activation syndrome, MCAS, May–Thurner syndrome

Background Joint Hypermobility Syndrome (JHS) is a Heritable Disorder of Connective tissue characterised by joint laxity and chronic widespread arthralgia. People with JHS exhibit a range of other symptoms including balance problems. To explore balance further, the objective of this study is to compare responses to forward perturbations between three groups; people who are hypermobile with (JHS) and without symptoms and people with normal flexibility. Methods Twenty-one participants with JHS, 23 participants with Generalised Joint Hypermobility (GJH) and 22 participants who have normal flexibility (NF) stood on a platform that performed 6 sequential, sudden forward perturbations (the platform moved to the anterior to the participant). Electromyographic outcomes (EMG) and kinematics for the lower limbs were recorded using a Vicon motion capture system. Within and between group comparisons were made using Kruskal Wallis tests. Results There were no significant differences between groups in muscle onset latency. At the 1st perturbation the group with JHS had significantly longer time-to-peak amplitude than the NF group in tibialis anterior, vastus medialis, rectus femoris, vastus lateralis, and than the GJH group in the gluteus medius. The JHS group showed significantly higher cumulative joint angle (CA) than the NF group in the hip and knee at the 1st and 2nd and 6th perturbation, and in the ankle at the 2nd perturbation. Participants with JHS had significantly higher CA than the GJH group at the in the hip and knee in the 1st and 2nd perturbation. There were no significant differences in TTR. Conclusions The JHS group were able to normalise the timing of their muscular response in relation to control groups. They were less able to normalise joint CA, which may be indicative of impaired balance control and strength, resulting in reduced stability.

Background Previous research has indicated an association between hypermobility and autism. This study examined whether being autistic affects diagnosis, symptoms, and health experiences of people with hypermobility, including hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). We compare three groups: autistic adults, non-autistic adults, and adults who are not autistic but have a high level of autistic traits. Additionally, we examined which health and social factors predicted self-reported physical and mental health outcomes for autistic and non-autistic people with hEDS/HSD. Method A total of 1754 participants completed an online questionnaire about their diagnostic experience, hypermobile symptoms, co-occurring health conditions, self-rated physical and mental health, engagement with health services, and employment and benefits status. Around 25% of respondents were autistic; a further 25% had high levels of autistic traits. Results Autistic participants had more symptoms of hEDS/HSD and were more likely to have co-occurring physical and mental health conditions, compared with non-autistic and high autistic trait respondents. Autistic and high autistic trait participants self-reported poorer physical and mental health compared with non-autistic participants. Autistic participants’ mental health was impacted by limitations to everyday activities, whereas non-autistic participants were more impacted by difficulties with self-care. Conclusions Autistic and non-autistic people may experience hEDS/HSD differently, which may impact the type of supports that are most beneficial to them.

Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are both characterized by generalized hypermobility, in combination with pain, affected proprioception, and pronounced fatigue. Clinical observation indicates that behavioral problems, hyperactivity, and autistic traits are overrepresented in children with those conditions. The purpose of this retrospective study was to establish the prevalence of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) among children with HSD and hEDS treated in our clinic since 2012. Since Ehlers-Danlos syndrome (EDS) diagnostic criteria and international classification were changed in 2017, we equate the older diagnosis EDS hypermobility type with the newer hEDS and the older hypermobility syndrome with HSD. A registry search from the computerized medical record system found 201 children (88 boys, 113 girls) aged 6-18 years who were treated at our pediatrics department with the diagnoses HSD or EDS. All medical records (113 with HSD, 88 with EDS) were reviewed, and key symptoms such as fatigue and pain, as well as diagnosis of ADHD/ASD, were recorded. All EDS cases could be classified as hEDS. Of the entire study cohort, 16% had a verified ADHD diagnosis and a further 7% were undergoing ADHD diagnostic investigation. Significantly more children with hEDS had ADHD compared to children with HSD (p=0.02). In the age group 15-16 years, 35% of those with hEDS had ADHD and, among those aged 17-18 years, ADHD was present in 46%. Children with coexisting ADHD showed a significantly higher proportion of associated symptoms such as fatigue, sleep-problems, and urinary tract problems. ASD had been verified in 6% of the children. Of those with ASD, 92% had sleep problems. This study shows a strong association between HSD or hEDS and ADHD or ASD. Therefore, children with HSD or hEDS may need to be routinely screened for neuropsychiatric symptoms.

Past research has indicated that individuals with Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobililty Spectrum Disorder (G-HSD) report psychological and psychiatric symptoms, particularly anxiety disorders and depressive symptoms, at much greater rates than the general population. However, these studies have been primarily conducted in small samples at European centres. We report a retrospective chart review from 1035 consecutive patients (88% female) assessed for EDS/G-HSD at the GoodHope EDS Clinic at Toronto General Hospital between June 2019 and June 2021. Prior to assessment, all patients completed self-reported mental health screening questions, the Inventory of Depressive and Anxiety Symptoms – Dysphoria scale, and the Borderline Symptom List-23. The majority of patients reported current or past anxiety or depressive symptoms (53–87%), and a substantial minority reported significant mental health concerns, including Posttraumatic Stress Disorder (4.7–34.8%), disordered eating (19%), self-harm (3-29.2%), and suicidal behaviour (7.8–18.6%). Patients did not differ by diagnostic category on self-report measures of dysphoria or borderline symptoms. Individuals with G-HSD reported higher rates of anxiety and depression in clinical interview than those diagnosed with non-hypermobile EDS, and endorsed a higher rate of having “struggled with anxiety or depression” on the mental health screening questionnaire than individuals not diagnosed with EDS/G-HSD. No other differences emerged across diagnostic groups. These findings highlight the need for psychological support for individuals with EDS or G-HSD.

Purpose To identify the nature and extent of the evidence on psychological interventions among individuals with Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD). Materials and methods Eligible studies reported on psychological interventions for individuals of all ages with EDS and/or HSD. All studies published in English were included, with no restrictions to publication year or status. MEDLINE, CINAHL, EMBASE, and PsycINFO were searched. Two reviewers independently screened studies and abstracted data. Results This scoping review included 10 studies reporting on EDS, HSD, or both. Only cohort studies and case studies were identified. Four studies investigated Cognitive Behavioural Therapy (CBT), one investigated Dialectical Behavioural Therapy (DBT), two investigated psychoeducation, two investigated Intensive Interdisciplinary Pain Treatment (IIPT), and one investigated Acceptance Commitment Therapy (ACT). Interventions targeted pain management, self-destructive behaviours, and related psychological issues (e.g., depression/anxiety). Sample sizes were small (n < 50) for most studies and interventions were generally poorly described. Conclusions There is a critical need for high-quality research surrounding psychological interventions for individuals with EDS/HSD. Psychological interventions for these individuals are understudied and existing studies lack validity. Researchers should investigate psychological interventions for individuals with all types of EDS/HSD with high-quality studies to validate findings from the existing studies.