Search

Background: A high prevalence of disorders of gut‐brain interaction (DGBI) exist in patients with hypermobile Ehlers‐Danlos Syndrome (hEDS) and hypermobility spectrum disorders (HSD). However, it is unknown if clusters of hEDS/HSD patients exist which overlap with different DGBIs and whether this overlap influences presence of comorbidities and quality of life. We aimed to study these knowledge gaps. Methods: A prospectively collected hEDS/HSD cohort of 1044 individuals were studied. We undertook Uniform Manifold Approximation and Projection‐enabled (UMAP) dimension reduction to create a representation of nonlinear interactions between hEDS/HSD and DGBIs, from which individuals were stratified into clusters. Somatization, Postural Tachycardia Syndrome (PoTS), autonomic symptoms, psychological factors and quality of life were statistically compared between clusters. Key Results: The mean age of patients was 40 ± 13.2 years; 87.8% were female. Patients segregated into three clusters: Cluster 0 (n = 466): hEDS/HSD+ functional foregut disorders (FFD) + irritable bowel syndrome (IBS); Cluster 1 (n = 180): hEDS/HSD+ IBS and Cluster 2 (n = 337): hEDS/HSD alone. In cluster 0, we demonstrated increased somatization (p <0.0001), anxiety (p <0.0001), depression (p <0.0001), PoTS prevalence (p = 0.003), autonomic symptoms (p <0.0001) and reduced quality of life (p <0.0001) compared to cluster 2. Cluster 0 had greater comorbidity burden than cluster 1. Conclusions: Within hEDS/HSD, subgroups exist with a high prevalence of FFD and IBS. These subgroups have a higher prevalence of psychological disorders, dysautonomia and poorer quality of life compared with hEDS/HSD alone. Further research should focus on healthcare utilization, management and prognosis in hEDS/HSD and DGBI overlap. [ABSTRACT FROM AUTHOR]

The Ehlers‐Danlos syndromes (EDS), a group of uncommon connective tissue disorders, are, paradoxically, an increasingly common referral to genetics specialists. Of the 13 types of EDS, the most common is hypermobile EDS (hEDS), which lacks a known genetic etiology and for which diagnosis is achieved via a robust set of clinical criteria. While previous investigations have characterized many clinical aspects of EDS as a syndrome and patients' lived experiences, a gap in the literature exists regarding clinicians' experience caring for these individuals. This study sought to understand the effects of hEDS patient referrals from genetic counselors' perspectives. To capture these novel views and values, we conducted semi‐structured interviews with 15 participants who were members of the National Society of Genetic Counselors (NSGC) and had experience working with the hEDS patient population. Interview questions explored the frequency of hEDS referrals in their clinic, investigated their roles and responsibilities as genetic counselors when working with this population, analyzed their workflow for this indication, assessed the impacts on their professional satisfaction, and explored potential options for improving workflow and care for the hEDS patient population. Reflexive thematic analysis yielded four themes: (1) Referrals for hEDS have generally increased over time and many institutions have implemented new policies to control this influx, (2) genetic counselors' primary roles include education and addressing psychosocial matters for this population, (3) genetic counselors feel both rewarded and challenged by these referrals, and (4) genetic counselors call for more education and training on hEDS for all healthcare specialties. Our findings provide a better understanding of the goals of the hEDS patient referrals to genetics specialists and the opportunities and challenges those referrals present. Genetic counselors have specific training and skills in psychosocial counseling and communication, in some ways making them ideal care providers for this population. However, they are simultaneously a scarce resource and the complex medical issues presented by many patients with hEDS make multidisciplinary management essential. We conclude with potential avenues for improving interactions with this population. [ABSTRACT FROM AUTHOR]

Vascular Ehlers‐Danlos, Marfan and Loeys‐Dietz syndromes have increased risk of aortic dilation and dissection. Previous early studies showed hypermobile Ehlers‐Danlos syndrome (hEDS) may also have increased risk, with echocardiography screening recommended; subsequent studies have not confirmed the risk or recommended echocardiography. This pediatric‐based study assessed aortic dilation prevalence in those with hEDS by serial echocardiographic examinations and assessed family history for aortic dissections. We retrospectively identified individuals with hEDS who had echocardiography studies from the electronic medical records at one pediatric center. Aortic root Z‐scores >2.0 were found in 15/225 subjects (average age 12.9 years) on initial echocardiograms, with no Z‐score >3.0. Subsequent studies (n = 68) found statistically significant decline in aortic root Z‐scores. Repeat echocardiography in those with initial aortic root Z‐score >2.0 (n = 10) demonstrated a decline in Z score <2.0 in seven. On final examination, 9/225 (4.0%) had a Z‐score >2.0, not statistically different from the general population. No aortic dissection occurred in first‐ or second‐degree relatives. In conclusion, aortic root dilation rate in hEDS is likely not different from the general population. We propose that in the absence of other cardiac findings or suspicion for another disorder, echocardiography is not required in hEDS. [ABSTRACT FROM AUTHOR]

Objectives Patients with hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) experience a wide array of symptoms and system disorders. This study aimed to identify whether differences occurred in 115 self-reported symptoms and comorbidities in patients diagnosed with hEDS or HSD. Methods In this study we analysed self-reported data from an EDS Clinic intake questionnaire in patients diagnosed with hEDS, HSD or no hypermobile conditions. Results From 1 November 2019 to 7 March 2024, the EDS Clinic saw 2088 patients. Using the 2017 diagnostic criteria, 66.5% were diagnosed with HSD (n  = 1389), 20.3% with hEDS (n  = 423), 10.6% with historic HSD (H-HSD) or localized HSD (L-HSD) (n  = 256) (hypermobile controls) and 2.6% were not diagnosed with hEDS, HSD, H-HSD or L-HSD (n  = 55) (controls). Symptoms/comorbidities that occurred with high prevalence in both hEDS and HSD included joint pain (hEDS 82.0%, HSD 88.9%), allergy (hEDS 77.0%, HSD 77.0%), subluxations (hEDS 71.2%, HSD 72.6%), brain fog (hEDS 70.0%, HSD 74.7%), headache (hEDS 68.1%, HSD 69.1%), anxiety (hEDS 60.3%, HSD 69.3%), depression (hEDS 52.2%, HSD 58.0%), migraine (hEDS 53.7%, HSD 52.5%), nausea (hEDS 54.6%, HSD 59.5%) and constipation (hEDS 53.0%, HSD 57.2%). In contrast, 9/115 (8%) symptoms/comorbidities were self-reported significantly more often in hEDS but 42/115 (37%) in HSD. hEDS patients reported more symptoms that suggest a defect in collagen, such as dislocation, hernias and rectal prolapse, while HSD patients reported more joint, muscle, allergy, neurological, gastrointestinal, sleep and psychological symptoms/comorbidities. Conclusion Although we found an overlap in some symptoms and comorbidities self-reported by hEDS/HSD patients, such as allergy/atopy, headache/migraine and gastrointestinal symptoms, our findings suggest key differences exist between the two diagnoses, suggesting that hEDS and HSD may be distinct conditions. [ABSTRACT FROM AUTHOR]

Background: Many patients experience persistent symptoms after COVID-19, a syndrome referred to as Long COVID (LC). The goal of this study was to identify novel new or worsening comorbidities self-reported in patients with LC. Methods: Patients diagnosed with LC (n = 732) at the Mayo Long COVID Care Clinic in Rochester, Minnesota and Jacksonville, Florida were sent questionnaires to assess the development of new or worsening comorbidities following COVID-19 compared to patients with SARS-CoV-2 that did not develop LC (controls). Both groups were also asked questions screening for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), generalized joint hypermobility (GJH) and orthostatic intolerance. 247 people with LC (33.7%) and 40 controls (50%) responded to the surveys. Results: In this study LC patients averaged 53 years of age and were predominantly White (95%) women (75%). The greatest prevalence of new or worsening comorbidities following SARS-CoV-2 infection in patients with LC vs. controls reported in this study were pain (94.4% vs. 0%, p < 0.001), neurological (92.4% vs. 15.4%, p < 0.001), sleep (82.8% vs. 5.3%, p < 0.001), skin (69.8% vs. 0%, p < 0.001), and genitourinary (60.6% vs. 25.0%, p = 0.029) issues. 58% of LC patients screened positive for ME/CFS vs. 0% of controls (p < 0.001), 27% positive for GJH compared to 10% of controls (p = 0.026), and a positive average score of 4.0 on orthostatic intolerance vs. 0 (p < 0.001). The majority of LC patients with ME/CFS were women (77%). Conclusion: We found that comorbidities across 12 surveyed categories were increased in patients following SARS-CoV-2 infection. Our data also support the overlap of LC with ME/CFS, GJH, and orthostatic intolerance. We discuss the pathophysiologic, research, and clinical implications of identifying these conditions with LC. [ABSTRACT FROM AUTHOR]

Purpose: Narrative Medicine complements the clinically centered approach, which focuses on the analytical and sanitary aspects, with the illness- and disorder- centered models, which deal respectively, with personal coping and social perception of a condition. Hypermobile Ehlers- Danlos Syndrome and Behçet's Disease are two rare multisystemic chronic disease experienced a myriad of clinical symptoms, psychological distress, and poor quality of life. The purpose of this report is to describe application of a multidisclipinary rehabilitation intervention according to the narrative medicine. Case description and Intervention: a 35-year-old woman with a 23-year history of Hypermobile Ehlers-Danlos Syndrome and Behçet's Disease was admitted. A multimodal rehabilitation approach was implemented and described through the patient's feelings and expected short-, medium-, and long- terms goals. Moreover, she reported her feeling with periodical interview by her therapist. History patient: The patient was seen for 32 weeks. A decreased pain, as well as improved function was recorded immediately post-intervention. Conclusion: Narration is not just an interpretation of the illness experience, but the result of reshaping the interpretations of the story that both patient and health professional. This discipline provides enrichment of care, especially when combined with rehabilitation in chronic disease, by paying attention to and using even in the therapeutic phase the stories of patients, family and health care personnel, giving the opportunity to define a tailored effectiveness rehabilitation approach at the light of the different points of view of the subjects. IMPLICATIONS FOR REHABILITATION: Narrative Medicine might play a key role in an interpretation of the illness experience to implement a multidisciplinary tailored rehabilitation approach. Narrative Medicine can help understand discomfort and difficulty associated with rehabilitation activities, thereby enhancing patient motivation and participation in interdisciplinary care. The Ehlers–Danlos Syndrome is a heterogeneous group of heritable connective tissue disorders representing a challenge in rehabilitation. Behçet's Disease is a rare multisystemic chronic disease experiencing an impaired function and a poor quality of life. A patient-oriented multimodal rehabilitation showed to be a useful approach in the case with both diseases, with a reduction of pain and an improvement of functioning. [ABSTRACT FROM AUTHOR]

Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are the most common joint hypermobility conditions encountered by physicians, with hypermobile and classical EDS accounting for >90% of all cases. Hypermobility has been detected in up to 30-57% of patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), fibromyalgia, postural orthostatic tachycardia syndrome (POTS), and long COVID (LC) compared to the general population. Extrapulmonary symptoms, including musculoskeletal pain, dysautonomia disorders, cognitive disorders, and fatigue, are seen in both LC and HSD. Additionally, ME/CFS has overlapping symptoms with those seen in HSD. Mast cell activation and degranulation occurring in both LC and ME/CFS may result in hyperinflammation and damage to connective tissue in these patients, thereby inducing hypermobility. Persistent inflammation may result in the development or worsening of HSD. Hence, screening for hypermobility and other related conditions including fibromyalgia, POTS, ME/CFS, chronic pain conditions, joint pain, and myalgia is essential for individuals experiencing LC. Pharmacological treatments should be symptom-focused and geared to a patient's presentation. Paced exercise, massage, yoga, and meditation may also provide benefits. [ABSTRACT FROM AUTHOR]

Purpose: Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD) are understudied conditions characterized by hallmark hypermobility and chronic pain. Disease manifestations lead to significant disability. Understanding predictors of disability, over and above the univariate construct of pain severity, is necessary to tailor treatment. Thus, the current study examined the impact of the Fear-Avoidance Model [FAM] on disability in hEDS/HSD. Fear of falling was included as a novel fear-avoidance factor impacting disability. Methods: A total of 168 individuals with hEDS/HSD answered a cross-sectional online survey regarding FAM constructs, fear of falling, disability, and clinical-demographic factors. A hierarchical regression analysis was used to assess whether FAM constructs and fear of falling significantly predicted disability, over and above pain severity and age. Results: Pain catastrophizing, anxiety, and fear of falling contributed significant unique predictive relations, above age and average pain severity. Pain severity and fear of falling were the strongest unique predictors of disability. Conclusions: This is the first study to assess the relations among FAM constructs, pain severity, and disability in hEDS/HSD, and introduces fear of falling as a novel fear-avoidance factor specific to this population. Future research should apply these findings towards individualized interventions to improve disability in hEDS/HSD. IMPLICATIONS FOR REHABILITATION: Disability is significant in hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders, and may be predicted by psychosocial factors of anxiety, pain catastrophizing, and fear of falling. Our findings suggest that improving disability in hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders involves the consideration of physical factors, such as pain severity, along with psychosocial factors, the latter of which are amenable to change through individualized intervention plans. Fear of falling is a novel fear-avoidance construct that should be considered in future research and clinical settings to increase functionality in this frequently falling population. [ABSTRACT FROM AUTHOR]

Introduction Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders, the essence of which are abnormalities in the function of collagen. One type of EDS with an unknown genetic basis is the hypermobile form of EDS (hEDS). hEDS manifests mainly in musculoskeletal defects, as well as chronic pain. There is extremely high need to correctly diagnose and then correctly treat patients with hEDS. Initially conservative treatment is used, but if patients fail to achieve relief, surgical treatment is considered. Aim of the study The purpose of the authors was to gather all the information regarding hEDS in terms of surgical treatment. The authors focused mainly on finding the advantages and disadvantages of the various methods and also on collecting information on the indications for choosing the given surgical methods. Materials and methods The methodology of the literature search involved using the keywords: „hypermobile Ehlers-Danlos syndrome”, „shoulder instability”, „joint hypermobility”, „chronic pain” and „Latarjet”. The search terms were entered into the PubMed database. References include systematic reviews, but also clinical trials, as well as case reports. Conclusion Currently available literature does not offer enough information to undertake standardized management of patients with hEDS. Not only is there a lack of studies on groups of patients with hEDS, but also on large groups of patients without hEDS, making it impossible to choose the best method based on the available clinical trials. Moreover, through the lack of such studies, it becomes impossible to truly assess whether patients with hEDS have a higher rate of surgical failure and thus a higher risk of inappropriate management of a specific patient with hEDS.

Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common type of EDS, characterized by joint hypermobility, frequent dislocations, and chronic pain. Genetic markers are not typically used in diagnosis.A 17-year-old clinically diagnosed with hEDS presented with recurrent lower abdominal pain, later attributed to intermittent partial adnexal torsion. Whole-genome sequencing revealed a missense mutation c.1691G > A (p.Arg564His) in the COL1A1 gene. She had undergone two exploratory laparotomies at ages 8 and 10 due to acute pain, resulting in a left adnexectomy and right detorsion with hydrosalpinx drainage. It was suspected that the recurrent adnexal torsion was linked to hEDS-related tissue elasticity, and so a laparoscopic right oophoropexy by shortening the utero-ovarian ligament was performed. At one-year follow-up, she was asymptomatic.This case highlights the potential connection between hEDS and adnexal torsion, which may contribute to chronic abdominal pain, often misattributed to other conditions, such as irritable bowel syndrome.

Care for and clinical presentation of patients with connective tissue disorders, specifically hypermobile Ehlers-Danlos syndrome, is poorly understood. Diagnosis can often take years, and comprehensive care can be difficult to coordinate for these patients. This vignette aims to show the clinical characteristics of a young female with Hypermobile Ehlers-Danlos, as well as the evaluation of her diagnostic presentation and subsequent treatment. The demographic data of this population are yet to be established, and as it can vary widely between individuals, it is important to recognize symptoms that distinguish this disorder from others with similar presentations. Education of physicians on this syndrome will allow earlier recognition of symptoms and lead to better outcomes of these patients overall. [ABSTRACT FROM AUTHOR]

Background: Ehlers–Danlos syndrome (EDS) is a common group of inherited connective tissue disorders with a prevalence as high as 0.75%–2% of the population. Physical manifestations include pain and decreased proprioception, especially in more mobile joints, such as the shoulder. The kinesiology tape (K-Tape) is often used to treat patients with shoulder dysfunction. The effectiveness of the K-Tape is uncertain, and there is a lack of studies specifically studying the K-Tape in an EDS population. Purpose: The purpose of this study was to compare the short-term effects of two different K-Tape procedures on shoulder active joint reposition (AJR) and active range of motion (AROM) in patients with hypermobile EDS (hEDS) and shoulder pain. Methods: All participants were recruited from the EDS support groups and presented with shoulder pain. Baseline demographic information was obtained for each participant, after which AROM and AJR were assessed. The participants were randomized to receive one of two K-Tape procedures. Testing was repeated immediately post-taping and 48 h post-taping. Results: Significant improvements in shoulder external (F = 10.917, p < 0.001) and internal (F = 11.736, p < 0.001) rotations were seen from baseline to immediately post-taping and baseline to 48 h post-taping in the experimental K-Tape group. There were no significant differences in the shoulder rotation in the control K-Tape group and no significant differences in either group for shoulder flexion or AJR at any time point (p > 0.05). Conclusion: K-Tape may offer short-term improvements in shoulder rotation AROM in patients with hEDS and shoulder pain. [ABSTRACT FROM AUTHOR]

Physical therapy (PT) plays a central role in treating individuals with Generalized Hypermobility Spectrum Disorder (G-HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS). However, there is limited research describing these individuals' PT management. This review aims to systematically map the evidence on PT interventions to treat this patient population. A systematic literature search of PubMed, CINAHL, and Embase from January 2000 to April 2023 was performed. After the screening process, studies were appraised and classified based on the type of PT interventions used. Five reviewers independently assessed the articles. The search produced 757 articles. Twenty-eight met the inclusion criteria. The studies included 630 participants, mostly female, with a mean age of 26.2 (ranging from 2 to 69). The PT interventions used were therapeutic exercise, patient instruction, motor function training, adaptive equipment, manual therapy, and functional training. The evidence indicates that therapeutic exercise and motor function training are efficacious methods to treat individuals with G-HSD and hEDS. There is also weak evidence for using adaptive equipment, patient instruction, manual therapy, and functional training. Recent studies emphasize multidisciplinary care and understanding of the psychological impact of G-HSD/hEDS. Additional research is needed to determine the effectiveness and dosage of PT interventions. The lack of guidelines and consensus on physical therapy (PT) interventions to treat and restore function in people with Generalized Hypermobility Spectrum Disorder (G-HSD) and hypermobile Ehlers-Danlos Syndrome (hEDS) challenges clinicians. This review supports therapeutic exercise and motor function training to improve function, well-being, and quality of life in people with G-HSD and hEDS. There is weak evidence for using adaptive equipment, patient instruction, manual therapy, and functional training. We have gathered existing evidence, appraised the quality, and drawn conclusions on this population's most supported PT interventions. [ABSTRACT FROM AUTHOR]

BackgroundMany patients experience persistent symptoms after COVID-19, a syndrome referred to as Long COVID (LC). The goal of this study was to identify novel new or worsening comorbidities self-reported in patients with LC.MethodsPatients diagnosed with LC (n = 732) at the Mayo Long COVID Care Clinic in Rochester, Minnesota and Jacksonville, Florida were sent questionnaires to assess the development of new or worsening comorbidities following COVID-19 compared to patients with SARS-CoV-2 that did not develop LC (controls). Both groups were also asked questions screening for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), generalized joint hypermobility (GJH) and orthostatic intolerance. 247 people with LC (33.7%) and 40 controls (50%) responded to the surveys.ResultsIn this study LC patients averaged 53 years of age and were predominantly White (95%) women (75%). The greatest prevalence of new or worsening comorbidities following SARS-CoV-2 infection in patients with LC vs. controls reported in this study were pain (94.4% vs. 0%, p

Hypermobility spectrum disorders (HSD) and hypermobile Ehlers–Danlos syndrome (hEDS) are the most common joint hypermobility conditions encountered by physicians, with hypermobile and classical EDS accounting for >90% of all cases. Hypermobility has been detected in up to 30–57% of patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), fibromyalgia, postural orthostatic tachycardia syndrome (POTS), and long COVID (LC) compared to the general population. Extrapulmonary symptoms, including musculoskeletal pain, dysautonomia disorders, cognitive disorders, and fatigue, are seen in both LC and HSD. Additionally, ME/CFS has overlapping symptoms with those seen in HSD. Mast cell activation and degranulation occurring in both LC and ME/CFS may result in hyperinflammation and damage to connective tissue in these patients, thereby inducing hypermobility. Persistent inflammation may result in the development or worsening of HSD. Hence, screening for hypermobility and other related conditions including fibromyalgia, POTS, ME/CFS, chronic pain conditions, joint pain, and myalgia is essential for individuals experiencing LC. Pharmacological treatments should be symptom-focused and geared to a patient’s presentation. Paced exercise, massage, yoga, and meditation may also provide benefits.

INTRODUCTION: Disorders of gut-brain interaction (DGBI) are common in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder (hEDS/HSD). Food is a known trigger for DGBI symptoms, which often leads to dietary alterations and, increasingly, nutrition support. We aimed to explore dietary behaviors and influencing factors in patients with hEDS/HSD. METHODS: In a cross-sectional study, patients with hEDS/HSD were recruited from Ehlers-Danlos Support UK (nontertiary) and tertiary neurogastroenterology clinics to complete questionnaires characterizing the following: dietary behaviors, nutrition support, DGBI (Rome IV), gastrointestinal symptoms, anxiety, depression, avoidant restrictive food intake disorder (ARFID), mast cell activation syndrome, postural tachycardia syndrome (PoTS), and quality of life. We used stepwise logistic regression to ascertain which factors were associated with dietary behaviors and nutrition support. RESULTS: Of 680 participants (95% female, median age 39 years), 62.1% altered their diet in the last year and 62.3% regularly skipped meals. Altered diet was associated with the following: reflux symptoms (P < 0.001), functional dyspepsia (P 5 0.008), reported mast cell activation syndrome (P < 0.001), and a positive screen for ARFID, specifically fear of eating and low interest (P < 0.001). Approximately 31.7% of those who altered their diet required nutrition support. The strongest predictor of requiring nutrition support was a positive screen for ARFID, specifically fear of eating (OR: 4.97, 95% CI: 2.09-11.8, P < 0.001). DISCUSSION: Altered diet is very common in the patients with hEDS/HSD we studied and influenced by functional dyspepsia, reflux symptoms, and ARFID. Those with ARFID have a 4-fold increased risk of requiring nutrition support, and therefore, it is paramount that psychological support is offered in parallel with dietary support in the management of DGBI in hEDS/HSD. [ABSTRACT FROM AUTHOR]

Children with hypermobility spectrum disorder/hypermobile Ehlers-Danlos syndrome (HSD/hEDS) have a high prevalence of chronic pain, which may influence gait dynamics. However, little is known about pain outcomes and their association with gait spatiotemporal parameters in children with HSD/hEDS. Does pain correlate with gait spatiotemporal parameters in children with HSD/hEDS? Eighteen children with HSD/hEDS and eighteen typically developing (TD) children participated in the study. The current level of pain (0–10 on the numeric rating scale), modified Brief Pain Inventory, and Pain Catastrophizing Scale-Child version were implemented to assess pain in children with HSD/hEDS. All children completed a gait analysis at a self-selected speed. Mean and variability (measured using the coefficient of variation) of gait spatiotemporal parameters were analyzed. Gait parameters included stride length, stride time, gait speed, percent stance time, and step width. A Mann-Whitney U-test was used to compare the gait parameters between children with HSD/hEDS and TD children. Spearman correlations were used to examine the relationships between pain and gait spatiotemporal parameters in children with HSD/hEDS. Children with HSD/hEDS had a longer percent stance time compared to TD children (p = 0.03). Lower pain interference in relationships with other people was significantly associated with faster gait speeds (ρ = −0.55, p = 0.03). Children with HSD/hEDS also had greater pain interference during mobility (ρ = 0.5, p = 0.05) and going to school (ρ = 0.65, p = 0.01), which were significantly correlated with greater stride length variability. Greater pain interference during enjoyment of life was significantly associated with greater percent stance time variability (ρ = 0.5, p = 0.05). Greater pain catastrophizing was correlated with decreased step width variability in children with HSD/hEDS (ρ = −0.49, p = 0.05). Pain interference and catastrophe were significantly associated with gait spatiotemporal variability. Our findings suggest that assessing pain-associated gait alterations may help understand the clinical features and gait kinematics of children with HSD/hEDS. • The percent stance time was different between HSD/hEDS and typically developing children. • There is no difference in gait variability between HSD/hEDS and typically developing children. • Faster gait speeds were associated with lower pain outcomes in children with HSD/hEDS. • Stride length, percent stance time, and step width variability were associated with pain. [ABSTRACT FROM AUTHOR]

Background: The hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are connective tissue disorders characterized by generalized joint hypermobility, associated with chronic pain and several symptoms, such as fatigue, dysautonomia, as well as psychiatric co‐morbidities. Clinical observations of unusual manifestations during systematic sensory testing raised the question of a possible co‐existence with a functional neurological disorder (FND). Hence, this study aimed to assess the presence of positive functional neurological signs (FNS) in a cohort of patients with hEDS/HSD. Methods: The clinical data of hEDS/HSD patients (N = 24) were retrospectively analyzed and compared to a prospectively recruited age‐/sex‐matched healthy control group (N = 22). Four motor‐ and three sensory‐positive FNS were assessed. Results: Twenty‐two patients (92%) presented at least one motor or sensory FNS. Five patients (21%) presented only a single FNS, 14 presented between 2 and 4 FNS (58%), and 3 patients presented 5 or more FNS (12%). None of the healthy controls presented motor FNS, and only two presented a sensory FNS. Conclusions: The presence of FNS in hEDS/HSD deserves better clinical detection and formal diagnosis of FND to offer more adequate care in co‐morbid situations. In fact, FND can severely interfere with rehabilitation efforts in hEDS/HSD, and FND‐targeted physical therapy should perhaps be combined with EDS/HSD‐specific approaches. [ABSTRACT FROM AUTHOR]

The most common conditions with symptomatic joint hypermobility are hypermobile Ehlers‐Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). Diagnosing these overlapping connective tissue disorders remains challenging due to the lack of established causes and reliable diagnostic tests. hEDS is diagnosed applying the 2017 diagnostic criteria, and patients with symptomatic joint hypermobility but not fulfilling these criteria are labeled as HSD, which is not officially recognized by all healthcare systems. The 2017 criteria were introduced to improve diagnostic specificity but have faced criticism for being too stringent and failing to adequately capture the multisystemic involvement of hEDS. Herein, we retrospectively evaluated 327 patients from 213 families with a prior diagnosis of hypermobility type EDS or joint hypermobility syndrome based on Villefranche and Brighton criteria, to assess the effectiveness of the 2017 criteria in distinguishing between hEDS and HSD and document the frequencies of extra‐articular manifestations. Based on our findings, we propose that the 2017 criteria should be made less stringent to include a greater number of patients who are currently encompassed within the HSD category. This will lead to improved diagnostic accuracy and enhanced patient care by properly capturing the diverse range of symptoms and manifestations present within the hEDS/HSD spectrum. [ABSTRACT FROM AUTHOR]

BackgroundEhlers–Danlos syndrome (EDS) is a common group of inherited connective tissue disorders with a prevalence as high as 0.75%–2% of the population. Physical manifestations include pain and decreased proprioception, especially in more mobile joints, such as the shoulder. The kinesiology tape (K-Tape) is often used to treat patients with shoulder dysfunction. The effectiveness of the K-Tape is uncertain, and there is a lack of studies specifically studying the K-Tape in an EDS population.PurposeThe purpose of this study was to compare the short-term effects of two different K-Tape procedures on shoulder active joint reposition (AJR) and active range of motion (AROM) in patients with hypermobile EDS (hEDS) and shoulder pain.MethodsAll participants were recruited from the EDS support groups and presented with shoulder pain. Baseline demographic information was obtained for each participant, after which AROM and AJR were assessed. The participants were randomized to receive one of two K-Tape procedures. Testing was repeated immediately post-taping and 48 h post-taping.ResultsSignificant improvements in shoulder external (F = 10.917, p 0.05).ConclusionK-Tape may offer short-term improvements in shoulder rotation AROM in patients with hEDS and shoulder pain.

Abstract Background The hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are connective tissue disorders characterized by generalized joint hypermobility, associated with chronic pain and several symptoms, such as fatigue, dysautonomia, as well as psychiatric co‐morbidities. Clinical observations of unusual manifestations during systematic sensory testing raised the question of a possible co‐existence with a functional neurological disorder (FND). Hence, this study aimed to assess the presence of positive functional neurological signs (FNS) in a cohort of patients with hEDS/HSD. Methods The clinical data of hEDS/HSD patients (N = 24) were retrospectively analyzed and compared to a prospectively recruited age‐/sex‐matched healthy control group (N = 22). Four motor‐ and three sensory‐positive FNS were assessed. Results Twenty‐two patients (92%) presented at least one motor or sensory FNS. Five patients (21%) presented only a single FNS, 14 presented between 2 and 4 FNS (58%), and 3 patients presented 5 or more FNS (12%). None of the healthy controls presented motor FNS, and only two presented a sensory FNS. Conclusions The presence of FNS in hEDS/HSD deserves better clinical detection and formal diagnosis of FND to offer more adequate care in co‐morbid situations. In fact, FND can severely interfere with rehabilitation efforts in hEDS/HSD, and FND‐targeted physical therapy should perhaps be combined with EDS/HSD‐specific approaches.

Introduction: Left renal vein compression (nutcracker physiology) with secondary spinal epidural venous congestion is a newly recognized cause of daily persistent headache. Presently, only women with underlying symptomatic hypermobility issues appear to develop headache from this anatomic issue. The hypothesized etiology is an abnormal reset of the patient's cerebrospinal fluid (CSF) pressure to an elevated state. Headaches that occur during sleep can have a varied differential diagnosis, one of which is elevated CSF pressure. We present the case of an older woman who began to develop severe wake-up headaches at midnight. She was found to have left renal vein compression and spinal epidural venous congestion on imaging. After treatment with lumbar vein coil embolization, which alleviated the spinal cord venous congestion, her headaches alleviated. Case Report: A 61-year-old woman with a history of hypermobile Ehlers-Danlos syndrome began to be awakened with severe head pain at midnight at least several times per week. The headache was a holocranial, pressure sensation, which worsened in the supine position. The headaches were mostly eliminated with acetazolamide. Because of her hypermobility issues and pressure-like headache, she was investigated for underlying nutcracker physiology and spinal epidural venous congestion. This was confirmed using magnetic resonance (MR) angiography and conventional venography, and after lumbar vein coil embolization her wake-up headaches ceased. Conclusion: The case report suggests a possible new underlying and treatable cause for early morning, wake-up headaches: nutcracker physiology with secondary spinal epidural venous congestion. The case expands on the clinical headache presentation of nutcracker physiology. [ABSTRACT FROM AUTHOR]

Key Clinical Message Omalizumab may be a beneficial adjunct treatment option for hEDS patients require to improve pain control, ability to perform ADLs and functionality and social engagement, and most importantly, quality of life.

Background: Using hydrogen breath testing (HBT) to diagnose small intestinal bacterial overgrowth (SIBO) remains controversial in patients with functional gastrointestinal (GI) disorders, and unknown in those with hypermobility Ehlers–Danlos syndrome (hEDS). We assessed prevalence of positive HBTs in these groups, evaluated the predictive value of GI symptoms and the potential role of proton pump inhibitors (PPIs) on test results. Methods: Sequential patients referred for HBT to a tertiary unit were classified into the following groups: GI maldigestion/malabsorption, GI sensorimotor disorders, hEDS, and functional GI disorders. All underwent standardized HBT, and the yield was assessed against symptoms and PPI use. Key Results: A total of 1062 HBTs were performed over 3 years (70% female, mean age 48 ± 16 years). Overall, 7.5% (80/1062) patients had a positive HBT. Prevalence of positive HBT was highest in patients with GI maldigestion/malabsorption (17.9%; DOR 16.16, p < 0.001), GI sensorimotor disorders (15.9%; DOR 8.84, p < 0.001), compared to functional GI disorders (1.6%; DOR 1.0) (p < 0.0001). None of the hEDS patients tested positive for HBT. A positive HBT was independently associated with increased age (DOR 1.03; p < 0.001) and symptoms of diarrhea (DOR 3.95; p < 0.0001). Patients on PPIs tended towards a positive HBT than patients off PPIs (16.1% vs 6.9%; DOR 2.47; p < 0.0001). Conclusions & Inferences: Less than 2% of patients with functional GI disorders, and none of the patients with hEDS had a positive HBT. Pre‐test probability was higher in patients with: GI structural or neurological disorders; use of long‐term PPIs and symptoms of diarrhea. These criteria may be helpful in making appropriate therapeutic decisions and avoiding unnecessary hydrogen breath testing. [ABSTRACT FROM AUTHOR]

In recent years, there has been a noteworthy revival of interest in the function of mast cells (MCs) in the human body. It is now acknowledged that MCs impact a wide array of processes beyond just allergies, leading to a shift in research direction. Unfortunately, some earlier conclusions were drawn from animal models with flawed designs, particularly centered around the receptor tyrosine kinase (Kit) pathway. Consequently, several subsequent findings may have been unreliable. Thus, what is now required is a re-examination of these earlier findings. Nevertheless, the remaining data are fascinating and hold promise for a better comprehension of numerous diseases and the development of more effective therapies. As the field continues to progress, many intriguing issues warrant further investigation and analysis. For instance, exploring the bidirectional action of MCs in rheumatoid arthritis, understanding the extent of MCs' impact on symptoms associated with Ehlers–Danlos syndrome, and unraveling the exact role of the myofibroblast–mast cell–neuropeptides axis in the joint capsule during post-traumatic contractures are all captivating areas for exploration. Hence, in this review, we summarize current knowledge regarding the influence of MCs on the pathogenesis of selected musculoskeletal diseases, including rheumatoid arthritis, spondyloarthritis, psoriatic arthritis, gout, muscle and joint injuries, tendinopathy, heterotopic ossification, and Ehlers–Danlos syndrome. We believe that this review will provide in-depth information that can guide and inspire further research in this area. [ABSTRACT FROM AUTHOR]

Ehlers–Danlos syndromes are a heterogeneous group of Heritable Connective Tissue Disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Among the different types, the hypermobile Ehlers–Danlos syndrome is the most frequent and includes generalized joint hypermobility as the major diagnostic criterion. Joint hypermobility in hypermobile Ehlers–Danlos syndrome is often associated with pain that does not always allow the use of effective pain-reducing treatments. Patients with hEDS constantly describe their pain in detail. Eighty-nine patients with hEDS diagnoses were recruited and evaluated. They were asked to describe their pain in writing. The texts were examined through Linguistic Inquiry and Word Count. Correlational analyses were conducted between pain perception and language. A comparison of high/low pain perception and the quality of metaphors was carried out. The results showed that language quality varies depending on how much pain is perceived. The greater the pain is perceived, the lesser the positive effects and the greater the negative effects and dehumanizing metaphors are being used. Moreover, a greater pain seems to be related to a verbal experience of greater isolation and less self-care. In conclusion, the use of metaphors is a useful tool for examining illness experience and may help clinicians in the rehabilitation program. [ABSTRACT FROM AUTHOR]

To investigate the effectiveness of two home-based exercise programs for treating multidirectional shoulder instability (MDI) in patients diagnosed with Hypermobile Ehlers-Danlos syndrome (hEDS) or Hypermobility Spectrum Disorders (HSD). Twenty-one hEDS/HSD patients with MDI were recruited from the Center for Medical Genetics of the Ghent University Hospital. Patients were randomly assigned to either the experimental or the control group. Both groups received a 6-month home-based exercise program. The primary outcome measure was the Western Ontario Shoulder Index (WOSI). Secondary outcomes included the Disabilities of the Arm, Shoulder and Hand (DASH), Tampa Scale for Kinesiophobia (TSK), Patient-Specific Functional Scale (PSFS), Global Rating of Change (GROC), and pain pressure thresholds. Outcomes were assessed at baseline, after 6 weeks, 12 weeks, and 24 weeks. Significant main effects for time were observed for all questionnaires, except for the TSK (p = 0.12). Patients improved 240 and 325 points on the WOSI after 12 (p = 0.02) and 24 weeks (p = 0.001), respectively. Additionally, patients improved 8.6 points on the DASH (p = 0.002), 4.3 points on the PSFS (p = 0.01), and 1.02 points on the GROC (p = 0.001) after 24 weeks. No significant differences were found between group A and B. Both home-based exercise programs led to significant improvements in shoulder function. Home-based exercise therapy may be effective for treating MDI in the hEDS/HSD population. Home-based training is beneficial for improving shoulder function, but a multidisciplinary, supervised approach might be more effective for altering kinesiophobia in this patient population. [ABSTRACT FROM AUTHOR]

Cardiovascular system involvements have been frequently reported in hypermobile Ehlers‐Danlos Syndrome (hEDS). Mitral valve prolapse (MVP) and aortic root dilatation are included in the 2017 international classification criteria for hEDS. Different studies have found conflicting results regarding the significance of cardiac involvement in hEDS patients. We conducted a retrospective review of cardiac involvement in patients diagnosed with hEDS based on the 2017 International diagnostic criteria to provide further evidence toward more defined and reliable diagnostic criteria and recommended cardiac surveillance. A total of 75 hEDS patients with at least one diagnostic cardiac evaluation were included in the study. The most common reported cardiovascular complaints were lightheadedness (80.6%), followed by palpitations (77.6%), fainting (44.8%), and chest pain (32.8%). Of the 62 echocardiogram reports, 57 (91.9%) showed trace/trivial to mild valvular insufficiency, and 13 (21%) had additional abnormalities such as grade I diastolic dysfunction, mild aortic sclerosis, and trivial or small pericardial effusion. Of the 60 electrocardiograms (ECG) reports, 39 (65%) were normal, and 21 (35%) reported minor abnormalities or normal variants. Even though many hEDS patients in our cohort experienced cardiac symptoms, the presence of a significant cardiac abnormality was very low. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Omalizumab may be a beneficial adjunct treatment option for hEDS patients require to improve pain control, ability to perform ADLs and functionality and social engagement, and most importantly, quality of life. [ABSTRACT FROM AUTHOR]

Copyright of Galicia Clínica is the property of Sociedad Gallega de Medicina Interna and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The use of dynamic elastomeric fabric orthoses is examined in a young woman with hypermobile Ehlers‐Danlos syndrome (hEDS) referred for physiotherapy with hip dysplasia, prior to a right periacetabular osteotomy. Dynamic elastomeric fabric orthoses plus rigorous subjective examination, therapists' listening skills, and patient‐centered goals were useful for this hEDS patient. [ABSTRACT FROM AUTHOR]

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 that 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. [ABSTRACT FROM AUTHOR]

Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common type of EDS, characterized by joint hypermobility, frequent dislocations, and chronic pain. Genetic markers are not typically used in diagnosis. A 17-year-old clinically diagnosed with hEDS presented with recurrent lower abdominal pain, later attributed to intermittent partial adnexal torsion. Whole-genome sequencing revealed a missense mutation c.1691G > A (p.Arg564His) in the COL1A1 gene. She had undergone two exploratory laparotomies at ages 8 and 10 due to acute pain, resulting in a left adnexectomy and right detorsion with hydrosalpinx drainage. It was suspected that the recurrent adnexal torsion was linked to hEDS-related tissue elasticity, and so a laparoscopic right oophoropexy by shortening the utero-ovarian ligament was performed. At one-year follow-up, she was asymptomatic. This case highlights the potential connection between hEDS and adnexal torsion, which may contribute to chronic abdominal pain, often misattributed to other conditions, such as irritable bowel syndrome., (© 2024 The Authors. Published by Elsevier B.V.)

Experts in symptomatic generalized joint hypermobility (S-GJH) agree that upper cervical instability (UCI) needs to be better recognized in S-GJH, which commonly presents in the clinic as generalized hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome. While mild UCI may be common, it can still be impactful; though considerably less common, severe UCI can potentially be debilitating. UCI includes both atlanto-occipital and atlantoaxial instability. In the absence of research or published literature describing validated tests or prediction rules, it is not clear what signs and symptoms are most important for diagnosis of UCI. Similarly, healthcare providers lack agreed-upon ways to screen and classify different types or severity of UCI and how to manage UCI in this population. Consequently, recognition and management of UCI in this population has likely been inconsistent and not based on the knowledge and skills of the most experienced clinicians. The current work represents efforts of an international team of physical/physiotherapy clinicians and a S-GJH expert rheumatologist to develop expert consensus recommendations for screening, assessing, and managing patients with UCI associated with S-GJH. Hopefully these recommendations can improve overall recognition and care for this population by combining expertise from physical/physiotherapy clinicians and researchers spanning three continents. These recommendations may also stimulate more research into recognition and conservative care for this complex condition.

Abstract The use of dynamic elastomeric fabric orthoses is examined in a young woman with hypermobile Ehlers‐Danlos syndrome (hEDS) referred for physiotherapy with hip dysplasia, prior to a right periacetabular osteotomy. Dynamic elastomeric fabric orthoses plus rigorous subjective examination, therapists' listening skills, and patient‐centered goals were useful for this hEDS patient.

Purpose: The extent of comorbidity and misdiagnosis had been unclear for patients with hypermobile Ehlers-Danlos Syndrome (hEDS), a hereditary connective tissue disorder. The objectives of the study were to (1) describe the prevalence of alternative diagnoses that these patients have received, (2) assess their endorsement and rejection of these diagnoses, and (3) characterize their experience on their “diagnostic odysseys.” Methods: We circulated a survey through the Ehlers-Danlos Society’s Global Registry, asking participants which diagnoses they had received and whether they believed they were still accurate. They were also asked questions about their experience while seeking a diagnosis. Descriptive statistics and consensus clustering were then conducted. Results: A total of 505 unique individuals with clinically confirmed hEDS completed the survey. The average number of alternative diagnoses was 10.45. Anxiety, depression, and migraines were the most common. However, the diagnoses with the greatest endorsement were postural orthostatic tachycardia syndrome, cervical instability, and mast cell activation syndrome. The diagnoses with the greatest rejection were functional neurologic disorders, multiple sclerosis, and fibromyalgia. The average time to diagnosis was 10.39 years. Conclusion: An appropriate hEDS diagnosis is complex and its presentation multisystemic. Health care providers should be aware of the specific phenotypes to improve the time to diagnosis and care.

Background and Aim: Hypermobile Ehlers–Danlos syndrome (hEDS) and the hypermobility spectrum disorders (HSD) can be challenging to diagnose and manage. Gastrointestinal symptoms and disorders of gut‐brain interaction are common in this cohort and multifactorial in origin. The primary aim of this review is to arm the gastroenterologist with a clinically useful understanding of HSD/hEDS, by exploring the association of gastrointestinal disorders with HSD/hEDS, highlighting current pathophysiological understanding and providing a pragmatic approach to managing these patients. Methods: Literature relevant to the gastrointestinal system and hypermobile Ehlers–Danlos syndrome was systematically searched, critically appraised, and summarized. Results: Diagnosis is based upon clinical criteria and a genetic basis is yet to be defined. The prevalence of many gut symptoms, including abdominal pain (69% vs 27%, P < 0.0001), postprandial fullness (34% vs 16%, P = 0.01), constipation (73% vs 16%, P < 0.001), and diarrhea (47% vs 9%, P < 0.001) are significantly higher in HSD/hEDS compared with non‐HSD/hEDS individuals. Disorders of gut‐brain interaction are also common, particularly functional dyspepsia. The pathophysiology of gut symptoms is poorly understood but may involve effects of connective tissue laxity and its functional consequences, and the influence of autonomic dysfunction, medication and comorbid mental health disorders. Awareness is the key to early diagnosis. Management is limited in evidence‐base but ideally should include an integrated multidisciplinary approach. Conclusions: HSD/hEDS is a multisystemic disorder in which gastrointestinal symptoms, particularly related to disorders of gut‐brain interaction are common. Deficiencies in knowledge regarding the pathophysiological processes limit evidence‐based interventions and remain important areas for future research. [ABSTRACT FROM AUTHOR]

Ehlers–Danlos syndromes are a heterogeneous group of Heritable Connective Tissue Disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Among the different types, the hypermobile Ehlers–Danlos syndrome is the most frequent and includes generalized joint hypermobility as the major diagnostic criterion. Joint hypermobility in hypermobile Ehlers–Danlos syndrome is often associated with pain that does not always allow the use of effective pain-reducing treatments. Patients with hEDS constantly describe their pain in detail. Eighty-nine patients with hEDS diagnoses were recruited and evaluated. They were asked to describe their pain in writing. The texts were examined through Linguistic Inquiry and Word Count. Correlational analyses were conducted between pain perception and language. A comparison of high/low pain perception and the quality of metaphors was carried out. The results showed that language quality varies depending on how much pain is perceived. The greater the pain is perceived, the lesser the positive effects and the greater the negative effects and dehumanizing metaphors are being used. Moreover, a greater pain seems to be related to a verbal experience of greater isolation and less self-care. In conclusion, the use of metaphors is a useful tool for examining illness experience and may help clinicians in the rehabilitation program.

Orthostatic intolerance (OI) is frequently reported in young women with generalized hypermobility spectrum disorder (G‐HSD) and hypermobile EDS (hEDS). However, it remains currently unclear whether OI is a comorbidity or fundamental part of the pathophysiology of G‐HSD or hEDS. This study investigated the prevalence and impact of OI in young women across the hypermobility spectrum. Forty‐five women (14–30 years, 15 controls, 15 G‐HSD, and 15 hEDS) undertook a head‐up tilt (HUT) and active stand test. Postural Orthostatic Tachycardia Syndrome (POTS) and Orthostatic Hypotension (OH) were assessed using age‐related criteria. Autonomic dysfunction and quality‐of‐life questionnaires were also completed. The prevalence of POTS was higher in women with G‐HSD than hEDS and control groups during HUT (43% vs. 7% and 7%, respectively, p < 0.05), but similar between groups during the active stand (47%, 27%, and 13% for G‐HSD, hEDS, and control, respectively). No participants had OH. hEDS and G‐HSD participants reported more severe orthostatic symptoms and poorer quality of life than controls. Although POTS was observed in hypermobile participants, there is no conclusive evidence that its prevalence differed between groups due to differences between the HUT and active stand assessments. Nevertheless, OI and broader autonomic dysfunction impacted on their quality of life. [ABSTRACT FROM AUTHOR]

Abstract Background Four out of five patients with hypermobility spectrum disorder (HSD) or hypermobile Ehlers-Danlos syndrome (hEDS) experience shoulder complaints including persistent pain and instability. Evidence suggests that patients with HSD/hEDS who experience knee and back complaints improve with exercise-based therapy. However, no study has focused on exercise-based treatment for the shoulder in this patient group. The potential benefits of strengthening the shoulder muscles, such as increased muscle-tendon stiffness, may be effective for patients with HSD/hEDS who often display decreased strength and increased shoulder laxity/instability. The primary aim is to investigate the short-term effectiveness of a 16-week progressive heavy shoulder strengthening programme and general advice (HEAVY) compared with low-load training and general advice (LIGHT), on self-reported shoulder symptoms, function, and quality of life. Methods A superiority, parallel group, randomised controlled trial will be conducted with 100 patients from primary care with HSD/hEDS and shoulder complaints (persistent pain and/or instability) for more than 3 months. Participants will be randomised to receive HEAVY (full range of motion, high load) or LIGHT (neutral to midrange of motion, low load) strengthening programme three times weekly with exercises targeting scapular and rotator cuff muscles. HEAVY will be supervised twice weekly, and LIGHT three times during the 16 weeks. The primary outcome will be between-group difference in change from baseline to 16-week follow-up in the Western Ontario Shoulder Instability Index (WOSI, 0-2100 better to worse). Secondary outcomes will include a range of self-reported outcomes covering symptoms, function, and quality of life, besides clinical tests for shoulder strength, laxity/instability, and proprioception. Outcome assessors will be blinded to group allocation. Participants will be kept blind to treatment allocation through minimal information about the intervention content and hypotheses. Primary analyses will be performed by a blinded epidemiologist. Discussion If effective, the current heavy shoulder strengthening programme will challenge the general understanding of prescribing low-load exercise interventions for patients with HSD/hEDS and provide a new treatment strategy. The study will address an important and severe condition using transparent, detailed, and high-quality methods to potentially support a future implementation. Trial registration ClinicalTrials.gov NCT03869307 . Registered on 11 March 2019.

Ehlers-Danlos Syndromes (EDSs) are a group of connective tissue disorders, characterized by skin stretchability, joint hypermobility and instability. Mechanically, various tissues from EDS patients exhibit lowered elastic modulus and lowered ultimate strength. This change in mechanics has been associated with EDS symptoms. However, recent evidence points toward a possibility that the comorbidities of EDS could be also associated with reduced tissue stiffness. In this review, we focus on mast cell activation syndrome and impaired wound healing, comorbidities associated with the classical type (cEDS) and the hypermobile type (hEDS), respectively, and discuss potential mechanobiological pathways involved in the comorbidities.

BackgroundPeople with Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders are hampered in their social participation, especially in the social relationships they have.ObjectiveThe aim of this study is to research the impact of hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobile Spectrum Disorders (HSD) on interpersonal interactions and relationships.MethodsA phenomenological hermeneutic study was performed. Semi-structured interviews were used to explore the experiences of 11 participants.ResultsFour themes emerged from the data analysis. (1) people with hEDS or HSD can no longer do what they want to do and that affects their identity, (2) people with hEDS or HSD have to find a balance in the amount of activities they participate in, (3) having hEDS or HSD influences how to ask for, accept and give help, and (4) Relationships are affected in persons with hEDS or HSD. As well as changes in the social network, different types of relationships are influenced by the disease, including relationship with their partner, their children, their friends, strangers, fellow-sufferers and health care professionals.

Patients with hypermobile Ehlers-Danlos syndrome (hEDS) usually present with generalized joint hypermobility and pain, soft and hyperextensible skin with atrophic scars and easy bruising, periodontitis, mitral valve prolapse, and aortic root dilation. It may also lead to cervical spine instability or collapse of larynx cartilage/trachea, which can result in intubation difficulties and possible mucosal damage. Lung protective ventilation must be performed to prevent pneumothorax. Bruising, scoliosis, spondylosis, meningeal Tarlov cysts, increased risk for postdural puncture headache (PDPH), and resistance to local anesthetics may affect neuraxial anesthesia. This article aims to report an anesthetic approach of a 24-year-old woman with hEDS proposed for cesarean delivery. Additional past medical history included cutaneous psoriasis, polycystic ovarian syndrome, and bilateral hip dysplasia. No previous allergies were reported. She has been previously submitted to an uneventful general anesthesia. After rapid-sequence induction of general anesthesia, endotracheal intubation was performed with videolaryngoscopy. Balanced anesthesia with volatile anesthetics was used. The birth and recovery were safely managed without adverse events. hEDS can present challenges for both neuraxial anesthesia and orotracheal intubation. In this case, the initial anesthetic plan included general anesthesia and an airway approach with a videolaryngoscope. Patient positioning and padding were carefully executed to prevent bruising and joint dislocations., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Antunes et al.)

Background: Hypermobile Ehlers-Danlos syndrome (hEDS), characterized by joint hypermobility, skin laxity, and tissue fragility, is thought to be the most common inherited connective tissue disorder, with millions affected worldwide. Diagnosing this condition remains a challenge that can impact quality of life for individuals with hEDS. Many with hEDS describe extended diagnostic odysseys involving exorbitant time and monetary investment. This delay is due to the complexity of diagnosis, symptom overlap with other conditions, and limited access to providers. Many primary care providers are unfamiliar with hEDS, compounded by genetics clinics that do not accept referrals for hEDS evaluation and long waits for genetics clinics that do evaluate for hEDS, leaving patients without sufficient options., Objective: This study explored the user experience, quality, and utility of a prototype of a patient-facing diagnostic tool intended to support clinician diagnosis for individuals with symptoms of hEDS. The questions included within the prototype are aligned with the 2017 international classification of Ehlers-Danlos syndromes. This study explored how this tool may help patients communicate information about hEDS to their physicians, influencing the diagnosis of hEDS and affecting patient experience., Methods: Participants clinically diagnosed with hEDS were recruited from either a medical center or private groups on a social media platform. Interested participants provided verbal consent, completed questionnaires about their diagnosis, and were invited to join an internet-based focus group to share their thoughts and opinions on a diagnostic tool prototype. Participants were invited to complete the Mobile App Rating Scale (MARS) to evaluate their experience viewing the diagnostic tool. The MARS is a framework for evaluating mobile health apps across 4 dimensions: engagement, functionality, esthetics, and information quality. Qualitative data were analyzed using affinity mapping to organize information and inductively create themes that were categorized within the MARS framework dimensions to help identify strengths and weaknesses of the diagnostic tool prototype., Results: In total, 15 individuals participated in the internet-based focus groups; 3 (20%) completed the MARS. Through affinity diagramming, 2 main categories of responses were identified, including responses related to the user interface and responses related to the application of the tool. Each category included several themes and subthemes that mapped well to the 4 MARS dimensions. The analysis showed that the tool held value and utility among the participants diagnosed with hEDS. The shareable ending summary sheet provided by the tool stood out as a strength for facilitating communication between patient and provider during the diagnostic evaluation., Conclusions: The results provide insights on the perceived utility and value of the tool, including preferred phrasing, layout and design preferences, and tool accessibility. The participants expressed that the tool may improve the hEDS diagnostic odyssey and help educate providers about the diagnostic process., (©Jessica Goehringer, Abigail Kosmin, Natalie Laible, Katrina Romagnoli. Originally published in JMIR Formative Research (https://formative.jmir.org), 26.09.2024.)

Ehlers-Danlos syndrome is a rare genetic disorder that presents with a variety of pathologies depending on the disease type. Among them, vascular Ehlers-Danlos syndrome requires extremely careful management as there have been many reports of fatal perinatal complications such as uterine rupture. Although hypermobile Ehlers-Danlos syndrome is less likely to cause fatal complications, symptoms such as arthralgia, hip dislocation, and depression may be seen throughout pregnancy. We report here a case of twin pregnancy in which Ehlers-Danlos syndrome was first suspected at 19 weeks of gestation. Vascular Ehlers-Danlos syndrome could not be ruled out based on family medical history, making it difficult to determine the perinatal management strategy. Prompt genetic testing did however rule out the vascular type and the patient was diagnosed with hypermobile Ehlers-Danlos syndrome from the clinical symptoms, enabling us to manage the pregnancy safely until 34 weeks of gestation.

Dysautonomia is a recognized manifestation in patients with joint hypermobility (JH) disorders. Symptoms can be highly debilitating and commonly include physical deconditioning and poor aerobic fitness. In this study, the prevalence of dysautonomia, range of associated symptoms, patient‐reported physical activity levels, and echocardiographic features were assessed retrospectively in a cohort of 144 patients (94% female) with hypermobile Ehlers–Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD). Echocardiographic parameters of left ventricular size and function were compared between patients with and without dysautonomia as well as to reported values from healthy controls. Dysautonomia was identified in 65% of female and 44% of male subjects and was associated with a high burden of symptomatology, most commonly exercise intolerance (78%). Exercise capacity was limited by dysautonomia, often postural symptoms, in half of all patients. We observed a reduction in physical activity following the onset or significant flare of hEDS/HSD, most strikingly noting the proportion of dysautonomic patients with sedentary lifestyle, which increased from 44% to 85%. JH‐related dysautonomia was associated with smaller cardiac chamber sizes, consistent with the previous reports in positional orthostatic tachycardia syndrome. Dysautonomia is prevalent in patients with hEDS/HSD, and exercise intolerance is a key feature and leads to drastic decline in physical activity. Unfavorable cardiac geometry may underlie dysautonomia symptoms and may be due to cardiac atrophy in the setting of aerobic deconditioning. [ABSTRACT FROM AUTHOR]

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 that 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.

Objectives The aim was to ascertain occupational therapist (OT) and physiotherapist (PT) experiences of managing hypermobility spectrum disorders (HSDs) and hypermobile Ehlers-Danlos syndrome (hEDS) patients, specifically the training and confidence levels of therapists, use of evidence-based practice, accessibility of pain management and clinical psychology services, and perceived usefulness of a specialist centre in Scotland. Methods A mixed-method survey was distributed to Rheumatology OTs/PTs in Scotland. It included multiple choice and open text questions, which were analysed to reflect therapists' experiences and perception of service need. Results We found that therapists in Scotland do have expertise in the management of HSD/hEDS patients; however, this expertise tends to be concentrated in secondary care, which makes it difficult for patients who are managed in primary care to access. The majority of respondents reported lack of access to external training (80%). There was difficulty in referral to pain management services (55%) and clinical psychology (28%) among adult therapists. Paediatric services provided considerably better access to these disciplines. Of note, the majority of respondents were in favour of a specialist centre in Scotland for the training and education of therapists (94.7%) and the diagnosis and management of complex HSD/hEDS patients (73.7%). Conclusion More research is needed urgently to evaluate the effectiveness of therapy interventions to underpin a national guideline in order that we can improve outcomes for HSD/hEDS patients. A specialist centre with expert and engaged clinicians would be a valuable asset in coordinating patient-focused research and conducting good-quality clinical trials. [ABSTRACT FROM AUTHOR]

Ehlers-Danlos syndrome (EDS) is a collection of genetic disorders caused by abnormalities in collagen and typified by hyperflexible joints, hyperextensible skin, and a tendency for easy bruising and tissue injuries. Hypermobile Ehlers-Danlos syndrome (hEDS), the most common subtype, presents a diagnostic challenge due to the lack of specific genetic markers. This case report describes a 13-year-old girl with hEDS, presenting with hypermobility, thoracolumbar scoliosis, constipation, glucosuria, microscopic hematuria, urticaria, and intermittent episodes of bilateral hand and feet swelling. Genetic testing revealed a variant of uncertain significance in the COL9A2 gene. An echocardiogram showed a mildly dilated aortic root. The complexity of her presentation underscores the challenges in diagnosing and managing hEDS with multisystem involvement., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Cosare et al.)