Oral health-related quality of life among women with temporomandibular disorders and hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder.

BACKGROUND: People with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSDs) are at greater risk of developing temporomandibular disorders (TMDs), perhaps due to the general joint hypermobility. There is, however, no information on how oral health-related quality of life (OHRQoL) is affected in people with hEDS or HSD with TMD. The authors' aim was to assess OHRQoL via the 14-item, short version Oral Health Impact Profile (OHIP-14), as well as associated risk factors in women with TMD symptoms and confirmed hEDS or HSD. METHODS: A digital questionnaire was sent to members of The Swedish National EDS Association who reported having a confirmed or suspected EDS or HSD diagnosis in the health care system from January through March 2022. Then, a sample of 133 women with confirmed hEDS or HSD and TMD symptoms was constructed, and information on the following variables was collected: TMD symptoms, age, general health, oral health-related factors, comorbid symptoms, and psychological factors. Linear regression analysis was conducted to investigate the association between these variables and the OHIP-14 summary score as the outcome. RESULTS: Most participants reported TMD pain symptoms (93.9%), temporomandibular joint clicking (89.5%), and crepitation (55.6%). The mean (SD) total OHIP-14 summary score was 21.0 (13.2). Oral function had the lowest impact (2.0 [2.4]) and orofacial pain had the highest impact on OHRQoL (3.9 [2.5]). Self-reported bruxism, poor general health, and comorbid symptoms were significantly associated with impaired OHRQoL. CONCLUSIONS: Women with confirmed hEDS or HSD and TMD symptoms have a considerably impaired OHRQoL. PRACTICAL IMPLICATIONS: The multidimensional phenomenon of OHRQoL in this group needs to be considered in management strategies.

Glenoid morphology variation between patients with hypermobile shoulder joints and controls: Identification of hyperlaxity-related morphologic bone changes.

Objective: Our study aims to quantitatively determine the concavity of the glenoid articular surface in patients with hypermobile shoulders compared to those without. Method: We examined medical records of shoulder CTs from 2017 to 2022, selecting 50 patients with clinical signs of joint hypermobility for our case group and 54 for our control group. Two blinded readers independently assessed the glenoid morphology, calculating the glenoid concavity angle (GCA) and evaluating the articular surface shape as concave, flat, or convex. They also recorded the presence and severity of glenoid dysplasia. We compared these assessments between groups. Results: The mean GCA was significantly lower in the hypermobile group (2.3 ± 3.7° and 2.3 ± 3.8°) versus controls (6.6 ± 3.3° and 5.3 ± 3.8°) (P < 0.05). Interobserver reproducibility was high (ICC=0.76). A stark difference in glenoid morphology was noted between groups (P < 0.001), with a majority of hypermobile patients having a flat or convex glenoid. GCAs decreased with increasing shoulder laxity and dysplasia. GCA showed 77-81 % sensitivity and 55-82 % specificity for detecting shoulder hyperlaxity with a 4° cutoff. Conclusion: There is a significant association between GCA and shoulder hyperlaxity, demonstrating diagnostic efficacy and substantial interobserver agreement. Clinical Relevance: GCA values lower than 4° warrant further clinical investigation for shoulder hyperlaxity and associated conditions, which is crucial for patient treatment planning.

Long COVID and hypermobility spectrum disorders have shared pathophysiology.

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.

Functional benefit of joint surgery in patients with non-vascular Ehlers-Danlos syndrome: results of a retrospective study.

BACKGROUND: Ehlers-Danlos syndrome (EDS) is a hereditary disease characterised by joint hypermobility, skin hyperextensibility and tissue fragility. Hypermobile EDS (hEDS is the more frequent subtype. Joint surgery may benefit certain patients after failure of medical treatments, but there is no consensus on the optimal surgical management of patients with hEDS. The aims of this retrospective study were to chart the surgical management of patients with hEDS, to determine the role of arthroscopy and to evaluate the functional results of joint surgery, including the reintervention rates. RESULTS: A total of 69 patients with non-vascular EDS were evaluated (60 female; 87%). Mean (SD) age at first surgery was 25.6 ± 11.1 years. Among the 69 patients, first surgeries were carried out on the knee (n = 50; 39.4%), ankle (n = 28; 22.0%), shoulder (n = 22; 17.3%), wrist (n = 18; 14.2%) and elbow (n = 9; 7.1%). One-fifth of all first operations (20.8%) were carried out by arthroscopy, most often on the knee (36% of knee surgery cases). At the time of primary surgery, the surgeon was alerted to the diagnosis or suspicion of hEDS in only 33.9% of patients. The rate of reoperations (2 to ≥ 5) was 35.7% (10/28) for the ankle, 40.9% (9/22) for the shoulder, 44.4% (4/9) for the elbow, 50% (9/18) for the wrist and 60% (30/50) for the knee. Local or regional anaesthesia was badly tolerated or ineffective in 27.8%, 36.4% and 66.6% of operations on the wrist, shoulder and elbow, respectively. Overall, the majority of patients (> 70%) were satisfied or very satisfied with their surgery, particularly on the non-dominant side. The lowest satisfaction rate was for shoulder surgery on the dominant side (58.3% dissatisfied). CONCLUSIONS: Surgery for joint instability has a greater chance of success when it is carried out in patients with a known diagnosis of EDS before surgery. The majority of patients were satisfied with their surgery and, with the exception of the knee, there was a low rate of reoperations (≤ 50%). Arthroscopic procedures have an important role to play in these patients, particularly when surgery is performed on the knee.

Hypermobile Anterior Horn of the Lateral Meniscus: A Retrospective Case-Series Study of Presentation, Imaging, Treatment, and Outcomes.

Background and Objectives: Hypermobility of the lateral meniscus is typically associated with the posterior part of this structure, with occurrences in the anterior part rarely reported. However, a hypermobile anterior horn of the lateral meniscus can manifest clinical symptoms. This study aimed to increase awareness regarding hypermobility in the anterior horn of the lateral meniscus by presenting its clinical presentations, magnetic resonance imaging (MRI) findings, arthroscopic findings, treatment approaches, postoperative protocols, and clinical outcomes. Materials and Methods: A retrospective case-series involving patients diagnosed as having hypermobile anterior horn of the lateral meniscus through arthroscopy. The clinical presentations, preoperative image findings, arthroscopic findings, treatments, postoperative protocols, and clinical outcomes following meniscal stabilization were all reviewed. Results: A total of 17 patients (17 knees) with a mean age of 45.9 ± 18.4 years were analyzed. The mean follow-up period was 18.2 ± 7.6 months (range, 6-24 months). Primary symptoms included anterior lateral knee pain, tenderness in the lateral joint lines, and a locking sensation in six of the knees. MRI revealed hypodense lesions anterior to the meniscus, fluid accumulation, degenerative changes, and anterior horn deformities. Following meniscal stabilization, the Lysholm Knee Scoring Scale score increased from 65.8 ± 12.7 before surgery to 91.1 ± 9.6 at the final follow-up (p < 0.001). All the analyzed knees achieved a full range of motion by the final follow-up, with no patient experiencing any complication or requiring reoperation. Conclusions: There is no specific sign or test that can be used to detect a hypermobile anterior horn of the lateral meniscus. A thorough arthroscopic examination is essential for diagnosing hypermobility in the anterior horn of the lateral meniscus. Arthroscopic meniscal stabilization yields favorable outcomes.

Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker.

Diagnosing hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD), common overlapping multisystemic conditions featuring symptomatic joint hypermobility, is challenging due to lack of established causes and diagnostic tools. Currently, the 2017 diagnostic criteria for hEDS are used, with non-qualifying cases classified as HSD, although the distinction remains debated. We previously showed extracellular matrix (ECM) disorganization in both hEDS and HSD dermal fibroblasts involving fibronectin (FN), type I collagen (COLLI), and tenascin (TN), with matrix metalloproteinase-generated fragments in conditioned media. Here, we investigated these fragments in patient plasma using Western blotting across diverse cohorts, including patients with hEDS, HSD, classical EDS (cEDS), vascular EDS (vEDS), rheumatoid arthritis (RA), psoriatic arthritis (PsA), and osteoarthritis (OA), and healthy donors, uncovering distinctive patterns. Notably, hEDS/HSD displayed a shared FN and COLLI fragment signature, supporting their classification as a single disorder and prompting reconsideration of the hEDS criteria. Our results hold the promise for the first blood test for diagnosing hEDS/HSD, present insights into the pathomechanisms, and open the door for therapeutic trials focused on restoring ECM homeostasis using an objective marker. Additionally, our findings offer potential biomarkers also for OA, RA, and PsA, advancing diagnostic and therapeutic strategies in these prevalent joint diseases.

De novo urethral hypermobility at 6 months after first delivery as a risk factor for stress urinary incontinence 12 years postpartum.

OBJECTIVE: The aim of the study was to analyze the association between de novo urethral hypermobility 6 months postpartum and stress urinary incontinence (SUI) symptoms at 6 months and 12 years after first delivery. Risk factors associated with the development of postnatal urethral hypermobility were also examined. METHODS: A longitudinal cohort study was conducted on primigravid women, after excluding those with UI before pregnancy and/or urethral hypermobility (rotational angle ≥30°) at term. At 6 months postpartum, SUI was assessed based on symptoms and introital ultrasound performed to measure rotational angle (difference between urethro-pelvic angle at rest and at maximum Valsalva). Twelve years after delivery, women were sent a questionnaire including SUI assessment and questions on parity, current age, and body mass index. Continuous variables were compared using student's t-test and qualitative variables using chi-squared tests. A logistic regression model was constructed including variables that reached statistical significance (P < 0.05) in the univariate analysis. RESULTS: Of the 314 women who completed the 6-month follow-up, 265 (84.4%) were successfully contacted and completed the questionnaire at 12 years and these formed the study group. In 127 women (47.9%), de novo urethral hypermobility had developed by 6 months postpartum. There was no association between urethral hypermobility and SUI symptoms 6 months postpartum (OR: 1.17; 95% CI: 0.59-2.33). Twelve years after delivery, however, SUI was reported by 110 women overall (41.5%) and nearly half of the women who developed postnatal urethral hypermobility (61/127, 48.0%). CONCLUSION: De novo urethral hypermobility 6 months postpartum constitutes a risk factor for SUI 12 years later.

The need for primary care providers in the clinical management of hypermobility spectrum disorders and ehlers-danlos syndrome: a call to action.

Patients with joint-hypermobility and joint-hypermobility spectrum disorders (HSD), including hypermobile Ehlers-Danlos Syndromes (EDS) present numerous co-morbid concerns, and multidisciplinary care has been recommended. The complexity of these patient's needs and increased demand for medical services have resulted in long delays for diagnosis and treatment and exhausted extant clinical resources. Strategies must be considered to ensure patient needs are met in a timely fashion. This opinion piece discusses several potential models of care for joint-hypermobility disorders, several ways in which primary providers can be involved, and argues that primary providers should be an essential and integrated part of the management of these patients, in collaboration with multidisciplinary teams and pediatric subspecialists. We review several strategies and educational opportunities that may better incorporate primary providers into the care and management of these patients, and we also discuss some of the limitations and barriers that need to be addressed to improve provision of care. This includes establishing primary care physicians as the medical home, providing initial diagnostic and treatment referrals while connecting patients with specialty care, and collaboration and coordination with multi-disciplinary teams for more complex needs. Several barriers exist that may hamper these efforts, including a lack of available specialty trainings for providers interested in providing care to patients with EDS and HSD, a lack of expertly derived consensus guidelines, and limited time resources in extant primary care practices. Also, primary providers should have an active voice in the future for the further consideration and development of these presented strategies.

Co-occurrence of tethered cord syndrome and cervical spine instability in hypermobile Ehlers-Danlos syndrome.

The Ehlers-Danlos Syndromes (EDS) represent a group of hereditary connective tissue disorders, with the hypermobile subtype (hEDS) being the most prevalent. hEDS manifests with a diverse array of clinical symptoms and associated comorbidities spanning the musculoskeletal, neurological, gastrointestinal, cardiovascular, and immunological systems. hEDS patients may experience spinal neurological complications, including cervico-medullary symptoms arising from cranio-cervical and/or cervical instability/hypermobility, as well as tethered cord syndrome (TCS). TCS is often radiographically occult in nature, not always detectable on standard imaging and presents with lower back pain, balance issues, weakness in the lower extremities, sensory loss, and bowel or bladder dysfunction. Cervical instability due to ligament laxity can lead to headaches, vertigo, tinnitus, vision changes, syncope, radiculopathy, pain, and dysphagia. TCS and cervical instability not only share clinical features but can also co-occur in hEDS patients, posing challenges in diagnostics and clinical management. We present a review of the literature and a case study of a 20-year-old female with hEDS, who underwent surgical interventions for these conditions, highlighting the challenges in diagnosing and managing these complexities and underscoring the importance of tailored treatment strategies to improve patient outcomes.

Longitudinal echocardiography in pediatric patients with hypermobile Ehlers-Danlos syndrome.

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.

Differences in spinal axial rotation angles during the lumbar-locked rotation test between hyper and normal thoracic rotation groups: A cross-sectional study.

BACKGROUND: Trunk rotation is important in many sporting activities The thoracic spine has reciprocal relationships with the lumbar and pelvic spines, such that reduced flexibility in the lumbar or thoracic spine can lead to abnormal patterns of trunk movement and pain. However, few studies have investigated the relative trunk rotation mobilities of the thorax, lumbar, and pelvis. OBJECTIVE: To compare thoracic, lumbar, and pelvic rotation angles during the lumbar-locked rotation test between hyper and normal thoracic rotation groups. METHODS: Thirty-two young, active participants were enrolled in this study. After the attachment of inertial measurement units at the T1, T7, T12, L3, and S2 levels, the participants were required to stand in a comfortable upright posture for 5 s to allow postural measurements before performing the lumbar-locked rotation test. The participants were then divided into hyper thoracic rotation and normal thoracic rotation groups based on T1 angle measurements obtained during the lumbar-locked rotation test. RESULTS: The hyper thoracic rotation group had significantly higher thoracic rotation angles on both the right (p< 0.05) and left (p< 0.05) sides compared with the normal thoracic rotation group. Furthermore, we observed flat lumbar lordosis in the hyper thoracic rotation group compared with the normal thoracic rotation group, particularly in the lower lumbar region in standing posture. CONCLUSION: Our data suggest that evaluations of thoracic mobility should consider relative thoracic, lumbar, and pelvic motions, rather than the T1 angle alone. This study provides a basis for health professionals to evaluate movement dysfunctions associated with thoracic hypermobility.

Fascia as a regulatory system in health and disease.

Neurology and connective tissue are intimately interdependent systems and are critical in regulating many of the body's systems. Unlocking their multifaceted relationship can transform clinical understanding of the mechanisms involved in multisystemic regulation and dysregulation. The fascial system is highly innervated and rich with blood vessels, lymphatics, and hormonal and neurotransmitter receptors. Given its ubiquity, fascia may serve as a "watchman," receiving and processing information on whole body health. This paper reviews what constitutes fascia, why it is clinically important, and its contiguous and interdependent relationship with the nervous system. Unquestionably, fascial integrity is paramount to human locomotion, interaction with our environment, bodily sense, and general physical and emotional wellbeing, so an understanding of the fascial dysregulation that defines a range of pathological states, including hypermobility syndromes, autonomic dysregulation, mast cell activation, and acquired connective tissue disorders is critical in ensuring recognition, research, and appropriate management of these conditions, to the satisfaction of the patient as well as the treating practitioner.

Evidence for central sensitization as classified by the central sensitization inventory in patients with pain and hypermobility.

INTRODUCTION: Pain is a very common complaint among patients with hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSDs). Often challenging to treat, insights into the underpinnings of pain in this population have been fleeting. Central sensitization (CS) has been postulated as a potential etiological factor. METHODS: In this retrospective study, 82 consecutive patients with hEDS/HSDs were reviewed. Demographic information and Central Sensitization Inventory (CSI) results were collected. RESULTS: 71 of 82 (86.5%) patients demonstrated CS. Scores ranged from 12 to 94 with a median of 56. Pain scores as measured on the numerical rating scale (NRS) ranged from 2 to 10 with a mean and median of 6. CONCLUSION: A large percentage of patients with pain and a diagnosis of hEDS/HSDs demonstrated evidence of central sensitization as measured using the CSI. The CSI is simple to administer. The CSI may provide clinical insights that are key to successfully managing patients with hEDS/HSDs. Further research is needed to explore the ability to classify pain phenotypes in this patient population and the impact on precision medicine.

The Suggested Relationships Between Common GI Symptoms and Joint Hypermobility, POTS, and MCAS.

An increasing number of reports suggest an association between a newly recognized disease cluster and significant and often disabling gastrointestinal (GI) symptoms. This cluster is composed of diagnoses of hypermobility spectrum disorders (HSDs) such as joint hypermobility and hypermobile variant Ehlers-Danlos syndrome (hEDS), postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS). The diagnosis of these entities remains a challenge, as the pathophysiology of each has not been completely elucidated and the diagnostic criteria continue to evolve. This article describes a cohort of young adult females who shared similar GI symptoms, with intractable nausea and vomiting being most prominent and gastroesophageal reflux disease and constipation also occurring. Most strikingly, these females also exhibited or reported a history of HSD, hEDS, POTS, and/or MCAS. The clinical course of their GI symptoms was remarkable for considerable challenges in management, and artificial nutritional support proved necessary for some. This article describes the clinical features and outcomes of their GI manifestations, examines how these manifestations might be linked to their systemic syndromes, and discusses whether a shared pathophysiology exists. Pending the definition of a common thread between these conditions, this article seeks to raise awareness of their clinical definitions and foster research that will hopefully improve outcomes for these patients.

Post-traumatic stress and joint hypermobility in children and adolescents of Nepal after exposure to an earthquake.

A substantial body of literature has traditionally addressed the connection between the exposure to catastrophic events and the development of Post-Traumatic Stress disorder (PTSD), especially in the vulnerable stratum of children and adolescents. However, little is known about their biological predisposing factors, and further research is needed, especially in the context of the recent earthquakes in Turkey and Syria. The data of this study was collected 4 months after the 2015 earthquakes in Nepal, with the objective of providing new evidence to the field and documenting the role of a new potential predisposing factor: the Joint Hypermobility Syndrome (JHS). 941 subjects from three different regions of the country, aged 8-18 years, were assessed in a school-based cross-sectional investigation. PTSD, as the main response variable, was assessed using the Child PTSD Symptom Scale (CPSS) questionnaire and analysed considering three sub-dimensions: the severity of symptoms, the severity of impairment, and both taken together. JHS was assessed using the Screening Questionnaire to detect Hypermobility (SQ-CH) questionnaire. The severity of symptoms was strongly predicted by the distance to the epicentre. Females showed more severe symptomatology, but a lower perturbation in the daily functioning. Younger children reported a greater functional impairment. JHS group showed more severe PTSD than non-JHS group. We observed variability in the severity of PTSD according to previously known risk factors such as the distance to the epicentre, sex, and age. We also found an association between PTSD and JHS, which is discussed in reference to the neuroconnective endophenotype. It might be useful to consider the role of each variable when planning a mass intervention after a disaster.

A model linking emotional dysregulation in neurodivergent people to the proprioceptive impact of joint hypermobility.

Emotional feelings are putatively ascribed to central representation of bodily states in the context of expectation and uncertainty in both internal state and external world. Neurodivergent people are more likely to experience co-occurring mental health challenges, although mechanistic insights underpinning this association are scarce. We therefore undertook a study to test whether imprecise processing of proprioceptive error signals may underlie the connection between neurodivergence and emotional dysregulation. In a cohort of people with complex chronic conditions, including chronic pain/fatigue, and complex trauma, and in a comparison group, we assessed presence of neurodivergence, variant connective tissue manifested through joint hypermobility, and emotional dysregulation. We present a data-informed conceptual model showing that variant connective tissue determines whether proprioceptive surprise is linked with emotional dysregulation in neurodivergent individuals. We suggest that future research in this area may have important clinical implications for the interaction of mental and physical wellbeing in neurodivergent people. This article is part of the theme issue 'Sensing and feeling: an integrative approach to sensory processing and emotional experience'.

The Spider: a visual, multisystemic symptom impact questionnaire for people with hypermobility-related disorders-validation in adults.

INTRODUCTION: Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are often accompanied by varied and complex multisystemic comorbid symptoms/conditions. The Spider questionnaire was developed to evaluate the presence and impact of eight common multisystemic comorbidities. Thirty-one questions across eight symptom domains assess neuromusculoskeletal, pain, fatigue, cardiac dysautonomia, urogenital, gastrointestinal, anxiety, and depression symptoms. This study aimed to evaluate the Spider's construct validity in adults. METHOD: A cross-sectional observational study was conducted over four stages. Three international patient charities aided recruitment of participants through social media and website advertisements. Adults aged 18 to 65 years, with and without HSD/hEDS, were invited to participate. Validated, frequently used comparator questionnaires were used to establish convergent validity of Spider symptom domains. A control group was recruited for known-group validity analysis. Participants answered each Spider domain and the corresponding comparator questionnaire via surveys hosted by REDCap. Anonymous data were analysed using SPSS. Convergent validity was assessed through Spearman's correlational analysis and known-group validity through Mann-Whitney U analysis. RESULTS: A total of 11,151 participants were recruited across the four stages. Statistically significant, moderate-to-strong correlations were found between all Spider domains and their comparators (p < 0.001, r = 0.63 to 0.80). Known-group validity analysis showed statistically significant differences (p < 0.001) between the hypermobile and control groups in all eight domains. CONCLUSIONS: Convergent and known-group validity of the Spider was established with adults. These results suggest the Spider can measure the presence and impact of multisystemic comorbid symptoms/conditions in adults with HSD/hEDS, providing a tool which guides multidisciplinary management. Key Points • The Spider questionnaire is a novel tool assessing the presence and impact of the multisystemic comorbid symptoms/conditions associated with HSD/hEDS. • Convergent and known-group validity of the Spider questionnaire was established in adults aged 18 to 65. • This tool provides a quick and easy method to visualise the symptom profile of those with HSD/hEDS to guide symptom management.

Estimates of the excess cost burden of Ehlers-Danlos syndromes: a United States MarketScan® claims database analysis.

Introduction: Patients with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) have significant health challenges that are well-documented, however their impact in terms of cost is not known. Our research objective was to examine the cost burden of EDS and HSD in the United States. We focused this analysis on those with commercial insurance plans. Methods: We queried the MarketScan® database for year 2021 for claims that contained an ICD-10 diagnosis code for EDS or hypermobility. Excess costs for patients in the EDS and HSD cohorts were determined by matching each patient to one patient in the database that did not have a claim for EDS or HSD and comparing total costs for the calendar year. We determined whether patients had claims for selected comorbid conditions likely to impact costs during the calendar year. Results: Sample sizes were 5,113 for adult (age ≥ 18) patients with EDS, 4,880 for adult patients with HSD, 1,059 for child (age 5-17) patients with EDS, and 2,427 for child patients with HSD. The mean excess costs were $21,100 for adult EDS patients, $11,600 for adult HSD patients, $17,000 for child EDS patients, and $11,000 for child HSD patients. EDS and HSD cohorts, both adults and children, with any of the comorbidities had greater healthcare costs. The largest difference was found in the EDS cohort with gastrointestinal comorbid conditions, with more than double the costs for adults. Discussion: We found that patients in the MarketScan database, adults and children, who had EDS or HSD had substantially higher associated excess healthcare costs than patients without EDS or HSD when considering age, sex, geographic location, and comorbidities. These disproportionate healthcare costs in this population have health policy and economic implications, including the need for rapid diagnosis, access to treatment, and accelerated research to advance treatments.

Multisystem Involvement in a Pediatric Patient With Hypermobile Ehlers-Danlos Syndrome: A Case Report of the Diagnostic Complexity and Management Challenges.

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.