Hypermobility Related Disorders Research Articles

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

IntroductionHypermobility 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.MethodA 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.ResultsA 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.ConclusionsConvergent 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.

The Spider; A Multisystemic Symptom Impact Tool for People with Hypermobility-Related Disorders. Initial Validation in Adolescents

The Spider; A Multisystemic Symptom Impact Tool for People with Hypermobility-Related Disorders. Initial Validation in Adolescents

Parental perceptions of bladder dysfunction in children with symptomatic joint hypermobility.

Children with symptomatic joint hypermobility (SJH) report chronic pain, fatigue, and joint instability as their main symptoms. Symptoms can extend beyond musculoskeletal and include lower urinary tract dysfunction (LUTD). There are no studies exploring parent-perceived quality of life (QoL) in children with LUTD, or strategies used to manage symptoms in this population. Our online cross-sectional survey assessed parents of 6-18-year-olds via two UK charitable organizations. It included the Pediatric Incontinence Questionnaire (PinQ), the Dysfunctional Voiding Symptom Score, and questions exploring treatments and efficacy. Sixty-seven parental questionnaires were analyzed. The majority of children were white females (95%, n= 64). Urgency (97%, n= 65) and enuresis (41.7%, n= 28) were the most frequently reported symptoms. The PinQ questionnaire showed that children were emotionally distressed by LUTD. Twenty-nine parents (43%, n= 29) reported pharmacotherapy as the most effective treatment. Few had accessed other treatments such as physiotherapy (16%, n= 18). Most parents reported that overall treatment did not meet their expectations. This study highlights that parents perceive LUTD as having a great impact on their child's QoL. There is need for education among clinicians about LUTD and hypermobility-related disorders, and for development and evaluation of treatments.

Surgical treatment of abdominal compression syndromes: The significance of hypermobility-related disorders.

Case reports and systematic studies of the most common hypermobility-related disorders, hypermobile Ehlers-Danlos syndrome (hEDS), and hypermobility spectrum disorder (HSD) typically describe gastroenterological symptoms and complaints attributed to structural malfunction, autonomic dysfunction, or inflammation of the gastrointestinal tract. However, abdominal compression syndromes (CS) may also contribute to pain and dysfunction in these individuals and be the leading pathology given symptoms significantly reduce or cease after decompressive surgery. Arising not only in the abdomen and causing pain (median arcuate ligament syndrome [MALS] and superior mesenteric artery syndrome [SMAS]), CS also occur in the retroperitoneum and the pelvis (nutcracker syndrome and May-Thurner syndrome), these latter conditions causing chronic pelvic congestion syndrome (PCS). Here, we report primarily on our experience of the assessment and management of MALS and SMAS in a cohort of cases with a surprising prevalence of HSD and hEDS. To our knowledge, this is the first cohort report of its kind in hEDS, HSD, and CS. We recommend that CS are considered in hEDS and HSD individuals with gastrointestinal and other painful complaints within the "belt" area. These CS can be identified using functional ultrasound duplex examination in experienced hands, and in appropriate cases stabilizing surgery can substantially improve quality of life.

Advances in assessment of hypermobility-related disorders.

There has been increasing recognition in recent years of the prevalence and impact of symptoms which extend beyond the musculoskeletal system on the lives of people with hypermobility-related disorders. This has led researchers to develop more comprehensive assessment tools to help direct and monitor treatment. This article presents some of the latest assessment and diagnostic developments and their implications for practice from a physical therapy perspective.

Masterclass: Hypermobility and hypermobility related disorders

IntroductionHypermobile joints display a range of movement that is considered excessive, taking into consideration the age, gender and ethnic background of the individual. Joint hypermobility may present in a single joint, a few joints or in multiple joints and may be congenital or acquired with training, disease or injury. Hypermobile joints may be asymptomatic or may be associated with pain, fatigue, multisystemic complaints and significant disability. Furthermore, joint hypermobility may be a sign of an underlying hereditary disorder of connective tissue. PurposeThis masterclass aims to provides a state-of-the-art review of the aetiology, epidemiology, clinical presentation, assessment and management of joint hypermobility and hypermobility related disorders using an evidence based and biopsychosocial approach. The new framework for classifying the spectrum of joint hypermobility disorders along with new diagnostic criteria for the hypermobile Ehlers Danlos syndrome, published by an international consortium of clinical experts and researchers in 2017 is integrated into the paper. Implications for practicePeople with joint hypermobility related disorders present to healthcare professionals with a wide range of symptoms which extend beyond the musculoskeletal system. Early recognition and treatment are key to effective management. A biopsychosocial and patient empowerment approach to functional restoration is recommended.

OP0200 PATIENTS WITH HYPERMOBILITY RELATED DISORDERS HAVE A SIGNIFICANT NUMBER OF ORTHOPAEDIC INTERVENTIONS ON MULTIPLE SITES AND AT A YOUNG AGE: DATA FROM A TERTIARY REFERRAL CENTRE

Background:Mechanisms of pain associated with joint hypermobility are poorly understood and include nociceptive pain from structural joint changes along with soft tissue injuries linked to impaired proprioception; central sensitisation associated with chronic pain and muscle weakness alongside deconditioning. Anxiety and depression are also thought to play a role in patients presenting with pain and hypermobility. We have observed an increase in the rate of orthopaedic surgical procedures undertaken in patients attending the hypermobility clinics compared to those attending the general rheumatology and chronic pain clinics. There is limited published data regarding orthopaedic interventions in patients with hypermobility related disorders especially those with confirmed genetic mutations.Objectives:We aimed to evaluate the characteristics of patients in our hypermobility cohort focusing on those who had received prior surgical intervention in order to understand the underlying mechanism behind their presentations.Methods:A retrospective review of medical records was conducted of patients attending a hypermobility clinic at our tertiary referral centre, University College London Hospital, between January 2018 and December 2018.Results:There were 350 patients (300 females, 50 males) with a mean age of 36 years (range 18-71 years). 63% had a diagnosis of Hypermobility Spectrum Disorder or Hypermobility Syndrome and 37% had a type of Ehlers-Danlos Syndromes (EDS) (hypermobile, classical, vascular or other rare type). 46 patients (13%) had documented genetic mutations. 83 patients (24%) had undergone orthopaedic interventions including 9 who had EDS with confirmed genetic mutations. 54% of patients who had surgical intervention were under the age of 40. The total number of surgical procedures in the cohort was 227 (equating to 0.6485 interventions per patient). Of those requiring operative intervention, the average number of interventions per patient was 2.73. One third of patients had surgery on two or more joint groups, including 8 patients (2%) who had surgery in four or more joint groups. Knees (24%) and hips (23%) were the most common sites for operative intervention with 9% having surgery on their shoulders. 29% of pts had significant hypermobility with a Beighton score of 7 and above but there was no correlation between Beighton score and number of surgical procedures. Only 2% of cases were referred from an orthopaedic team thereby excluding a referral bias.Conclusion:Patients with hypermobility related disorders have a significant number of orthopaedic surgical procedures on multiple sites and at a young age, with indication of mechanical pathology playing an important role in their symptoms. The Beighton score does not appear to be a reliable predictor of surgical intervention. This is not surprising given that the score only covers 5 joint areas and excludes common surgical sites such as the hips and shoulders. Early diagnosis and a holistic non-operative approach combining physiotherapy and chronic pain management is essential to reduce the need for multiple surgical procedures.

P118 Orthopaedic surgical interventions in a cohort of patients with hypermobility related disorders, compared with chronic pain syndrome patients in a tertiary referral centre

Abstract Background Mechanisms of pain associated with hypermobility are poorly understood and include nociceptive pain due to structural joint changes, neuropathic pain due to disrupted proprioception, muscle weakness and central sensitisation. The influence of anxiety and low mood is also unknown. There is limited published evidence regarding orthopaedic interventions in hypermobile patients particularly following the updated 2017 Ehlers-Danlos syndrome (EDS) classification criteria. We aimed to evaluate the characteristics of a hypermobility patient cohort who had received surgical interventions and compare these with a patient population with chronic pain syndromes. Methods A retrospective analysis of medical records was conducted of patients attending a tertiary referral centre (University College London Hospital) between January 2018 and December 2018. A hypermobility-related disorders cohort was compared with a cohort of patients with chronic pain syndrome, including fibromyalgia (but without any evidence of hypermobility). Results There were 350 patients (300 females, 50 males) in the hypermobility cohort with a mean age of 36 years (range 18-71 years) at time of clinic review. 63% had hypermobility spectrum disorder or hypermobility syndrome and 37% had EDS (hypermobile, classic, vascular and other rare types). 24% of hypermobile patients had undergone orthopaedic interventions. The Beighton score did not correlate with surgical procedures. 134 patients (121 females, 13 males) with chronic pain syndromes were identified, with a mean age of 51 years (range 26-85 years). 16% of chronic pain patients had received orthopaedic surgery. 76% of hypermobile patients who had orthopaedic interventions were under 50 years old, compared to 23% in the chronic pain cohort. The total number of surgical procedures in the hypermobility cohort was 227 (0.6485 interventions per patient) compared with 25 in the chronic pain cohort (0.1865 interventions per patient); relative risk 3.477 (95% CI 2.42-4.99; P &amp;lt; 0.0001, chi-squared test). 33% of hypermobile patients had surgery on two or more joint groups (including 8 patients who had surgery in four or more joint groups), whereas 95% of chronic patients had surgery on only one joint group. In the hypermobile group the knee (23%) and hips (24%) were the most common site of operative intervention; however in the chronic pain cohort the most common sites were the knee (32%), spine (20%) and shoulders (20%), with only 4% requiring hip surgery. Conclusion Patients with hypermobility have a greater number of surgical procedures at multiple joint sites and at a younger age than patients with chronic pain syndromes, suggesting that mechanical pathology (rather than pain alone) and anticipated surgical success may contribute to the need for surgical intervention. The Beighton score does not appear to be a reliable predictor of surgical intervention. Earlier diagnosis and a holistic, non-operative approach, including physiotherapy and pain management, may reduce the need for surgical procedures. Disclosures S. Wright None. P. Mehta None. A. Rahman None. H. Kazkaz None.

Functional gastrointestinal disorders are increased in joint hypermobility-related disorders with concomitant postural orthostatic tachycardia syndrome

Functional gastrointestinal disorders are increased in joint hypermobility-related disorders with concomitant postural orthostatic tachycardia syndrome

Autism, Joint Hypermobility-Related Disorders and Pain.

Autism Spectrum Disorder (ASD) and Joint Hypermobility-Related Disorders are blanket terms for two etiologically and clinically heterogeneous groups of pathologies that usually appears in childhood. These conditions are seen by different medical fields, such as psychiatry in the case of ASD, and musculoskeletal disciplines and genetics in the case of hypermobility-related disorders. Thus, a link between them is rarely established in clinical setting, despite a scarce but growing body of research suggesting that both conditions co-occur more often than expected by chance. Hypermobility is a frequent sign of hereditary disorders of connective tissue (e.g., Ehlers-Danlos syndromes, Marfan syndrome), in which the main characteristic is the multisystem fragility that prone to proprioceptive and motor coordination dysfunction and hence to trauma and chronic pain. Considering the high probability that pain remains disregarded and untreated in people with ASD due to communication and methodological difficulties, increasing awareness about the interconnection between ASD and hypermobility-related disorders is relevant, since it may help identify those ASD patients susceptible to chronic pain.

Attention-deficit/hyperactivity disorder, joint hypermobility-related disorders and pain: expanding body-mind connections to the developmental age.

Attention-deficit/hyperactivity disorder (ADHD) and generalized joint hypermobility (JH) are two separated conditions, assessed, and managed by different specialists without overlapping interests. Recently, some researchers highlighted an unexpected association between these two clinical entities. This happens in a scenario of increasing awareness on the protean detrimental effects that congenital anomalies of the connective tissue may have on human health and development. To review pertinent literature to identify possible connections between ADHD and GJH, special emphasis was put on musculoskeletal pain and syndromic presentations of GJH, particularly the hypermobile Ehlers-Danlos syndrome. A comprehensive search of scientific databases and references lists was conducted, encompassing publications based on qualitative and quantitative research. Impaired coordination and proprioception, fatigue, chronic pain, and dysautonomia are identified as potential bridges between ADHD and JH. Based on these findings, a map of the pathophysiological and psychopathological pathways connecting both conditions is proposed. Although ADHD and JH are traditionally separated human attributes, their association may testify for the dyadic nature of mind-body connections during critical periods of post-natal development. Such a mixed picture has potentially important consequences in terms of disability and deserves more clinical and research attention.

The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome.

New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment and management of children, adolescents, and adults with JHS/hEDS. Due to the complexity of the symptoms in the profile of JHS/hEDS, the International Classification of Functioning, Disability and Health (ICF) is adopted as a central framework whereby the umbrella term of disability is used to encompass functions, activities and participation, as well as environmental and personal factors. The current evidence-based literature regarding the management of JHS/hEDS is limited in size and quality and there is insufficient research exploring the clinical outcomes of a number of interventions. Multicenter randomized controlled trials are warranted to assess the clinical and cost-effectiveness of interventions for children and adults. Until further multicenter trials are conducted, clinical decision-making should be based on theoretical and the current limited research evidence. For all individuals diagnosed with JHS/hEDS, international consensus and combined efforts to identify risk profiles would create a better understanding of the pathological mechanisms and the potential for optimizing health care for affected individuals. © 2017 Wiley Periodicals, Inc.

Hypermobility: an important but often neglected area within rheumatology

Hypermobility-related disorders are frequently encountered in clinical practice, but are too often dismissed as trivial. In this Viewpoint, Prof. Grahame discusses why the current perception of these disorders is inadequate, and highlights recent advances in the field as well as challenges and opportunities for future research and therapy.

Hypermobility

Joint hypermobility is widely prevalent in all communities yet its clinical effects are poorly understood and often overlooked by rheumatologists worldwide. They may observe the hypermobility but fail to appreciate its significance in terms of overall morbidity and, more specifically, its strong link with chronic pain, fatigue, dysautonomia and the adverse impact on quality of life. This last year's publications shed further light on this fascinating and, as yet, largely unexplored terrain within rheumatology. Perhaps the most compelling new knowledge is the finding that hypermobility, if sought, is the most common finding amongst patients presenting to a rheumatologist; more often than not, it is being overlooked. There is an urgent need for rheumatologists to accept the challenges posed by hypermobility-related disorders, which have, in the past, fallen by default to clinical geneticists untrained in rheumatology. Hypermobility, a largely unacknowledged though epidemiologically important area within rheumatology, affects almost every bodily system. Recent medical literature attests to the breadth of clinical science encompassed by the seemingly trivial term, hypermobility. Drawing readers' attentions to this fascinating, challenging, but neglected area of rheumatology will hopefully entice them to explore these conditions with greater zeal.