Hypermobility Type Research Articles

Surgical Management of Shoulder and Knee Instability in Patients with Ehlers-Danlos Syndrome: Joint Hypermobility Syndrome.

Ehlers-Danlos Syndrome (EDS) is a hereditary disorder of the connective tissue, which has been classified into numerous subtypes over the years. EDS is generally characterized by hyperextensible skin, hypermobile joints, and tissue fragility. According to the 2017 International Classification of EDS, 13 subtypes of EDS have been recognized. The majority of genes involved in EDS are either collagen-encoding genes or genes encoding collagen-modifying enzymes. Orthopedic surgeons most commonly encounter patients with the hypermobile type EDS (hEDS), who present with signs and symptoms of hypermobility and/or instability in one or more joints. Patients with joint hypermobility syndrome (JHS) might also present with similar symptomatology. This article will focus on the surgical management of patients with knee or shoulder abnormalities related to hEDS/JHS.

Subacromial space outlet in female patients with multidirectional instability based on hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder measured by ultrasound

The objective of the study was to compare the acromiohumeral distance (AHD) between patients diagnosed with hypermobility type of the Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD) and healthy controls by evaluating the relative amount the tendon occupies in the subacromial area. Furthermore, the aim was to evaluate if there was a change in AHD with arm elevation within and between groups. Twenty-nine female patients with hEDS/HSD (aged 34 ± 12.9 years) and 20 healthy controls (aged 33 ± 10.8 years) participated in the study. The supraspinatus tendon (SST) thickness and AHD were measured using ultrasound. The interplay between the SST and the AHD was expressed as the occupation ratio (OcAHD), calculated as the SST thickness as a percentage of AHD. The measures were performed in the resting position and in subsequently 45° and 60° of active arm elevation in the scapular plane. The main finding is that patients with hEDS/HSDhave a larger subacromial space outlet compared with the controls when measured by ultrasound. Furthermore, in both groups, we found an increased OcAHD during active arm elevation compared with the resting position, which indicates that similar mechanisms occur for patients with hEDS/HSDand healthy controls. Patients with hEDS/HSDhave a larger available subacromial space outlet compared with healthy individuals. OcAHD increased during active arm elevation compared with the resting position in both groups. This knowledge is important when designing rehabilitation exercise programs for shoulder instability patients with abnormal glenohumeral biomechanics.

1518 Malone Antegrade Continence Enema for Treatment of Adult Slow Transit Constipation in Ehlers-Danlos Syndrome

INTRODUCTION: Ehlers-Danlos syndrome hypermobility type (EDS-HT) is a multisystem disorder characterized by joint and spine hyperextensibility that may also involve the gastrointestinal (GI) tract resulting in various motility disorders. The Malone antegrade continence enema (MACE) procedure is most commonly used to treat severe constipation in children with neurogenic bowel disorders. We describe a case of severe EDS-HT related refractory constipation in an adult that was treated with the MACE procedure. CASE DESCRIPTION/METHODS: 22-year-old female with history of EDS-HT and mast cell activation disorder presented to our clinic for evaluation of chronic constipation, food regurgitation, nausea, and vomiting. Workup included a gastric emptying study showing gastroparesis, a colonic transit study showing slow transit, anorectal manometry showing a weak anal sphincter but no signs of dyssynergic defecation, and a proctogram showing normal emptying with a weak pelvic floor and excessive descent. Clinical course was complicated by recurrent attacks of nausea, vomiting, and abdominal pain without evidence of obstruction resulting in repeated emergency room visits. Chronic constipation was attributed to dysmotility from EDS-HT. Various combinations of osmotic and stimulant laxatives were utilized with inadequate response. She elected to undergo MACE procedure. Her symptoms gradually resolved after the procedure and she started having one bowel movement daily with a simplified bowel regimen including once daily antegrade enemas. DISCUSSION: The pathophysiology of GI dysmotility in EDS-HT is not completely understood but possible mechanisms include altered biomechanical properties and gut neurodevelopmental changes from extracellular matrix abnormalities. The MACE procedure involves laparoscopic placement of an appendicocecostomy tube to allow daily enema administration at the level of the cecum (Figure 1). This procedure is most commonly utilized in children with neurogenic bowel disorders but should also be considered in adult EDS-HT patients with constipation refractory to medical therapy. This case highlights the potential for severe morbidity in EDS-HT-related GI dysmotility disorders and sheds light on the therapeutic potential of the MACE procedure in this patient population.

Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients.

Joint hypermobility syndrome (JHS) (also termed hypermobility type Ehlers-Danlos syndrome, hEDS) is a heritable connective tissue disorder that is characterized by generalized joint hypermobility, chronic pain, fatigue, and minor skin changes. Initially, it was reported that there is a small subset of patients with JHS/hEDS who have haploinsufficiency of tenascin-X (TNX). However, the relationship between TNXB and JHS/hEDS has not been reported at all afterwards. EDS was reclassified into thirteen types in 2017, and the causative gene of JHS/hEDS remained to be identified. Therefore, in this study in order to determine whether JHS/hEDS can be diagnosed by the concentrations of serum form of TNX (sTNX), we measured the concentrations of sTNX in 17 JHS/hEDS patients. The sTNX concentrations in half of the JHS/hEDS patients were significantly lower than those in healthy individuals. No mutations, insertions or deletions were detected in the TNX exon sequence of the JHS/hEDS patients except for one in patient. That patient has a heterozygous mutation. A correlation between sTNX concentration and mutation of the TNXB genomic sequence was not found in the JHS/hEDS patients. These results indicate that the decrease in sTNX concentration could be used as a risk factor for JHS/hEDS.

Flexible bodies-Restricted lives: A qualitative exploratory study of embodiment in living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

The aim of this study was to explore embodiment as a meaning-making experience in the daily life of Norwegian adults living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT). The work of Drew Leder and his distinction between bodily dis- and dys-appearance contributes to the description and analysis of individuals' bodily experiences of living with this chronic illness. An explorative and qualitative design was applied to in-depth interviews with seven participants. The theoretical framework was phenomenological, and the method of analysis was thematic, involving descriptive and interpretative approaches. Participants' bodily experiences were closely connected to a timeline viewing their illness in the past, the present and from future perspectives. The following central themes emerged from the data: (a) visible to invisible signs of a former body; (b) standing up and falling down of a present body; and (b) future thoughts of an inner and outer body. The study found that living with JHS/EDS-HT revealed complex experiences of having flexible bodies and restricted lives. Our findings also showed a meaning-making process of embodied experiences that evolved over time, as well as a sliding transition from social to personal dys-appearance. In the course of time, a bodily disruptions in social interactions comes to the fore, with invisible symptoms such as pain and fatigue. Individual bodily suffering determines the existence of hope or hopelessness regarding recovery from this condition.

Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers–Danlos syndrome hypermobility type: a qualitative interview study

Purpose Little attention has been paid to psychosocial factors in Joint Hypermobility Syndrome and Ehlers–Danlos Syndrome (hypermobility type). This study sought to identify the psychosocial impact by examining participants’ lived experiences; and identify characteristics of effective coping. Materials and methods Adults with Joint Hypermobility Syndrome and Ehlers–Danlos Syndrome (Hypermobility Type) were invited to discuss their own lived experiences and the impact of the condition. All met recognized criteria for clinically significant joint hypermobility, and had a self-confirmed diagnosis. The transcripts were coded and analyzed using inductive thematic analysis. Results Seventeen participants (14 women, 3 men) purposively selected to broadly represent different genders, ages and ethnicities. Analysis identified five key themes: healthcare limitations, a lack of awareness of Joint Hypermobility, and Ehlers–Danlos Syndrome (Hypermobility Type) among healthcare professionals; a restricted life; social stigma; fear of the unknown; and ways of coping. Conclusions The results highlight the significant psychosocial impact on participants’ lives. Coping approaches identified included acceptance, building social networks, learning about joint hypermobility, and adapting activities. Physiotherapists supported regular exercise. Further research should consider potential interventions to improve information provision, address psychological support, and increase awareness of hypermobility among healthcare professionals. Implications for rehabilitation Participants who had help from family members to complete activities described guilt and shame, highlighting the need for a greater rehabilitation focus on maintaining independence. Difficulties with sexual relationships due to prolapse or erectile dysfunction, and associated anxieties have indicated a need for greater awareness of these issues within primary care. The provision of reliable information and materials is vital, both for healthcare professionals and patients, to reduce misinformation and fear. Physiotherapists with knowledge of Joint Hypermobility Syndrome and Ehlers–Danlos Syndrome hypermobility type were cited as sources of support and hope, which helped people to cope with and manage their condition.

The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS).

In recent years, an association between hypermobile Ehlers-Danlos syndrome (hEDS), mast cell activation syndrome (MCAS), and postural orthostatic tachycardia syndrome (POTS) has garnered attention and patients are increasingly presenting with this triad. However, a real relationship between these entities is unclear due to a lack of scientific validity. We conducted an extensive review of the literature using two different search strategies. A narrower strategy included 88 searches of various combinations of terms for each of the three conditions, yielding 19 unique papers. A broader search included 136 searches of various combinations of terms but included all forms of EDS and yielded 40 unique papers. Of these, only four and nine papers from the narrower and broader search strategies were original research articles. None of these papers resulted from a combination of the search terms for the three conditions. All three clinical entities are controversial in either existence or pathogenesis. MCAS is a poorly defined clinical entity, and many studies do not adhere to the proposed criteria when establishing the diagnosis. Patients previously diagnosed with EDS hypermobility type may not meet the new, stricter criteria for hEDS but may for a less severe hypermobility spectrum disorder (HSD). The pathophysiology of POTS is still unclear. An evidence-based, common pathophysiologic mechanism between any of the two, much less all three conditions, has yet to be described. Our review of the literature shows that current evidence is lacking on the existence of MCAS or hEDS as separate or significant clinical entities. Studies proposing a relationship between the three clinical entities are either biased or based on outdated criteria. The reason behind the purported association of these entities stems from an overlapping pool of vague, subjective symptoms, which is inadequate evidence to conclude that any such relationship exists.

The effect of five isometric exercises on glenohumeral translations in healthy subjects and patients with the hypermobility type of the ehlers-danlos syndrome (heds) or hypermobility spectrum disorder (hsd) with multidirectional shoulder instability: an observational study

ObjectivesTo examine whether patients, diagnosed with the hypermobility type of the Ehlers-Danlos syndrome (hEDS) or Hypermobility Spectrum Disorder (HSD), with multidirectional shoulder instability (MDI) have increased humeral head translations compared to healthy controls and to describe the direction of the humeral translations during five exercises. DesignObservational study. SettingGhent University Hospital. ParticipantsTwenty-seven female patients (aged mean (SD) 35 (13) years) with hEDS/HSD and MDI and 20 female healthy controls (aged 34 (11) years) participated in this study. InterventionsThe acromiohumeral (AHD) and humeralglenoid distance (HGD) were measured using ultrasound during five isometric exercises: shoulder external rotation, shoulder extension, shoulder flexion, elbow extension and holding a 2kg dumbbell. Main outcome measuresUltrasound measures of the AHD and HGD. ResultsDuring isometric shoulder extension, elbow extension and dumbbell loading, patients had a significantly larger change in AHD compared to controls. In patients, the AHD was significantly smaller during isometric shoulder flexion, extension and elbow extension compared to the AHD measured in rest. By contrast, the AHD was significantly larger during isometric external rotation and dumbbell loading compared to the AHD measured in rest. Regarding the HGD, no significant differences between patients and controls were observed. However, significantly smaller HGD values were found in patients during isometric shoulder flexion compared to the HGD in rest. ConclusionsIsometric external rotation and holding a 2kg dumbbell caused an inferior translation in patients with hEDS/HSD and MDI, whereas isometric shoulder flexion and shoulder/elbow extension respectively led to an anterior-superior and superior translation.

A review of the evidence for the existence of and relationship between hypermobile Ehlers-Danlos syndrome (hEDS), postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS)

Abstract The association of hypermobile Ehlers-Danlos syndrome (hEDS), mast cell activation syndrome (MCAS) and postural orthostatic tachycardia syndrome (POTS) is unclear. We conducted an extensive review of the literature using 2 different search strategies. A narrower strategy included 88 searches of various combinations of terms for each of the three conditions, yielding 19 unique papers. A broader search included 136 searches of various combinations of terms but included all forms of EDS and yielded 40 unique papers. Of these, only 4 and 9 papers from the narrower and broader search strategies were original research articles. None of these papers resulted from a combination of the search terms for the three conditions. All three clinical entities are controversial in either existence or pathogenesis. MCAS is a poorly defined clinical entity and many studies do not adhere to the proposed criteria when establishing the diagnosis. Patients previously diagnosed with EDS hypermobility type may not meet the new, stricter criteria for hEDS, but may for a less severe hypermobility spectrum disorder (HSD). The pathophysiology of POTS is still unclear. An evidence-based, common pathophysiologic mechanism between any of the two, much less all three conditions, has yet to be described. Our review of the literature shows that current evidence is lacking on the existence of MCAS or hEDS as separate or significant clinical entities. Studies proposing a relationship between the three clinical entities are either biased or based on outdated criteria. The reason behind the purported association of these entities stems from an overlapping pool of vague, subjective symptoms, which is inadequate evidence to conclude that any such relationship exists.

391 Validating causative mutations in patients with Ehlers-Danlos Syndrome using a novel xenograft model

The Ehlers-Danlos Syndrome (EDS) is a connective tissue disease characterized by joint hypermobility and cutaneous fragility. EDS is primarily caused by mutations in fibrillar collagens or genes involved in collagen synthesis. However, in many typical cases, causative genetic defects of EDS cannot be identified, and treatment options for patients are limited to symptomatic care. The lack of appropriate in vitro and in vivo EDS models that faithfully recapitulate the clinical phenotype of the disease further complicates studies of EDS mechanisms and hampers progress toward developing efficient therapeutic strategies for the disease. To develop a clinically relevant EDS model, we focused on a cohort of patients with hypermobility type of EDS who did not harbor known EDS-associated mutations but exhibited classical symptoms of the disease. We grafted fibroblasts, isolated from a skin biopsy of one of these patients together with healthy keratinocytes onto an immunocompromised mouse to recapitulate the EDS skin phenotype in a xenograft model. We found that grafts formed with EDS fibroblasts exhibited a disorganized collagen network, which has previously been observed in the skin of EDS patients. Using RNA sequencing analysis, we also compared transcriptional profile of EDS fibroblasts with that of control cells and identified several promising mutations and transcript variants that may be causing the phenotype in our patients. To validate the candidate mutations, we have reprogrammed EDS fibroblasts into induced pluripotent stem cells (iPSCs) and are currently correcting these candidate mutations using CRISPR/Cas9. The corrected EDS iPSCs will be differentiated into fibroblasts and grafted in our xenograft assay. If the disorganized collagen network is no longer observed in the xenograft, the candidate mutation is indeed the cause of EDS in our patients, validating the usefulness of our model in identifying the mechanisms of EDS.

Impairment of the endogenous pain-inhibitory control in patients with pain due to EhlerDanlos disease

We aimed at verifying whether widespread pain due to Ehlers Danlos syndrome, hypermobile type (hEDS) is associated with deficit of the endogenous pain-inhibitory control. In 22 patients with pain due to hEDS and in 22 healthy participants, matched for age and sex, we investigated function of the endogenous pain-inhibitory control using the Conditioned Pain Modulation(CPM) protocol.CPM protocol consisted of two heat painful stimuli, i.e. a test stimulus and a conditioning stimulus; no change or an increase in the test stimulus rating during conditioning stimulation is compatible with a deficit in the descending inhibitory pain control. In healthy participants the CPM protocol showed that the test stimulus rating was significantly reduced during conditioning (P < 0.01); conversely in patients with pain due to hEDS the test stimulus rating increased during conditioning (P < 0.001). We did not find any correlation between CPM variables and duration of disease, pain intensity and the widespread pain index. Our study showing that patients with pain due to hEDS have abnormal CPM protocol suggests that in this condition pain is associated with a deficit of the endogenous pain-inhibitory control. This finding is probably relevant to pharmacological treatment of pain due to hEDS, supporting the use of antidepressants.

Prevalence and frequency of self-perceived systemic features in people with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

Some commonly reported systemic features of joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome hypermobility type (EDS-HT) are absent from nosologies due to insufficient validity. The primary aim was to examine the hypothesised high prevalence and frequency of orthostatic intolerance, easy bruising, and urinary incontinence in adults with JHS/EDS-HT and secondarily to determine the association between extent of generalised joint hypermobility (GJH) and these systemic features. A cross-sectional cohort study was conducted via online recruitment of medically diagnosed JHS/EDS-HT patients. A survey collected demographic data and clinical history. A subgroup of participants underwent physical testing of GJH using the Beighton score and Lower Limb Assessment Score (LLAS). Descriptive analysis was performed on demographic data and self-reported non-musculoskeletal systemic features. Correlation of GJH scores and systemic features were performed using Spearman's rank correlation. The survey was completed by 116 individuals (95% female; 16-68years) with 57 (93% female) also participating in the physical assessment. The most prevalent systemic feature was orthostatic intolerance (98%), followed by easy bruising and urinary incontinence (97% and 84% respectively). Of those reporting symptoms of orthostatic intolerance, easy bruising, and urinary incontinence, 58%, 40%, and 18% described them as very highly frequent respectively (frequency > 75%). No significant correlations were found between the extent of systemic features and GJH scores as measured by either the Beighton score or the LLAS. The high prevalence and frequency of the systemic features found in this study, which are omitted in diagnostic classification criteria, suggest that further research on their diagnostic accuracy is warranted.

Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review.

Gastrointestinal symptoms are among the most common complaints in patients with postural tachycardia syndrome (POTS). In some cases, they dominate the clinical presentation and cause substantial disabilities, including significant weight loss and malnutrition, that require the use of invasive treatment to support caloric intake. Multiple cross-sectional studies have reported a high prevalence of gastrointestinal symptoms in POTS patients with connective tissue diseases, such as Ehlers-Danlos, hypermobile type, and in patients with evidence of autonomic neuropathy. Previous studies that evaluated gastric motility in these patients reported a wide range of abnormalities, particularly delayed gastric emptying. The pathophysiology of gastrointestinal symptoms in POTS is likely multifactorial and probably depends on the co-morbid conditions. In patients with POTS and Ehlers-Danlos syndromes, structural and functional abnormalities in the gastrointestinal connective tissue may play a significant role, whereas in neuropathic POTS, the gastrointestinal tract motility and gut hormonal secretion may be directly impaired due to localized autonomic denervation. In patients with normal gastrointestinal motility but persistent gastrointestinal symptoms, gastrointestinal functional disorders should be considered. We performed a systematic review of the literature related to POTS and gastrointestinal symptoms have proposed possible mechanisms and discussed diagnosis and treatment approaches for delayed gastric emptying, the most common gastrointestinal abnormality reported in patients with POTS.

The prevalence of generalized and syndromic hypermobility in elite Australian dancers

ObjectivesTo determine the prevalence of Generalized Joint Hypermobility (GJH) and Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome–Hypermobility Type (JHS/EDS-HT) among dancers using established validated measures. DesignObservational Cohort Study. SettingLaboratory. Participants85 dancers from two dance institutions. Main Outcome MeasuresGJH was determined using the Beighton score (cut-point ≥5/9) and the Lower Limb Assessment Scale (LLAS) (cut-point ≥7/12). Presence of JHS/EDS-HT was assessed using the Brighton and Villefranche criteria. Paired sample t-test was performed to compare LLAS side-to-side scores, and percentage disagreements calculated to determine differences between the two GJH and the two JHS/EDS-HT measures. Results72% of dancers met the Beighton cut-point for GJH, while 38% and 42% met the LLAS cut-point on the left and right respectively. The proportion of dancers identified with GJH was different when assessed using the Beighton compared to the left and right LLAS (both p < 0.001), a disagreement of 48% and 46% respectively, with Beighton classifying more participants as having GJH. The Villefranche identified more dancers with JHS/EDS-HT than the Brighton (84% vs 31%, p < 0.001), with 54% disagreement. ConclusionsHigh prevalence of generalized and syndromic hypermobility was found regardless of the criteria used. A higher Beighton cut-point, e.g. ≥6/9, to identify true GJH amongst dancers maybe warranted.

INFLUENCE OF JOINT HIPERMOBILITY ON POSTOPERATIVE RESULTS OF KNEE SURGERY.

ABSTRACTObjective:To evaluate the prevalence of joint hypermobility in patients undergoing knee surgery to treat traumatic injury to the meniscus and anterior cruciate ligament, and the influence of this hypermobility on postoperative results. Methods:This prospective study assessed joint hypermobility in patients who underwent surgical reconstruction of the anterior cruciate ligament (ACL), partial meniscectomy, or a procedure combining ACL reconstruction and partial meniscectomy during the period 2011-2015. The Beighton score was used to evaluate joint hypermobility and Tegner activity scale for postoperative assessment. Results:A total of 242 patients underwent surgery during the study period: 107 to treat ACL injuries, 75 to treat ACL injuries associated with meniscus injuries, and 60 to treat meniscus injuries. Of the total, 45 patients had joint hypermobility. We found no association between joint hypermobility and sex or type of injury. Postoperative Tegner scale results were not influenced by the presence of joint hypermobility. Conclusion:No association was found between joint hypermobility and the evaluated variables (gender and type of specific injury), and hypermobility did not have a negative impact on postoperative outcomes. Level of Evidence IV; Case series.

Contemporary approach to joint hypermobility and related disorders.

Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinically related issues in children and adults. Ehlers-Danlos syndrome (EDS) is an umbrella term for various Mendelian connective tissue disorders sharing joint hypermobility, skin hyperextensibility, and tissue fragility. Hypermobile EDS is the default diagnosis in many individuals and still lacks of any confirmatory test. There is also a continuous spectrum of phenotypes between asymptomatic, nonsyndromic joint hypermobility, and hypermobile EDS. In 2017, a new international classification of EDSs, joint hypermobility, and related disorders was published. EDSs are now classified in 13 different variants because of mutations in 19 genes. The gap between joint hypermobility and hypermobile EDS is filled by the descriptive diagnosis of 'hypermobility spectrum disorders'. Alongside the new criteria recommendations for the assessment and management of selected issues related to joint hypermobility such as fatigue and physical therapy have also been published by expert panels. Asymptomatic, nonsyndromic joint hypermobility, hypermobility spectrum disorders and EDS (particularly, the hypermobile type) are the most common phenotypes in children and adults with joint hypermobility. Their prompt recognition is crucial to the appropriate application of evidence-based management and the reduction in burden of ill health.

Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers–Danlos syndrome – hypermobility type

Purpose: To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers–Danlos syndrome – hypermobility type and to explore patient experiences of physiotherapy.Methods: A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers–Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically.Results: 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30–2.36, p < 0.001) than those with no advice. Participants who believed that exercise is important for long-term management were 2.76 times more likely to report a high volume of weekly exercise compared to the participants who did not hold this belief (OR = 2.76, 95% CI = 1.38–5.50, p = 0.004). Three themes emerged regarding experience of physiotherapy; physiotherapist as a partner, communication – knowledge, experience and safety.Conclusion: Pain, fatigue and fear are common barriers to exercise. Advice from a physiotherapist and beliefs about the benefits of exercise influenced the reported exercise behaviours of individuals with Ehlers–Danlos syndrome – hypermobility type in this survey.Implications for rehabilitationExercise is a cornerstone of treatment for Ehlers–Danlos syndrome/Ehlers–Danlos syndrome – hypermobility type.Pain, fatigue and fear of injury are frequently reported barriers to exercise.Advice from physiotherapists may significantly influence exercise behaviour.Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.

Severe Gastrointestinal Dysmotility in Patients With Ehlers-Danlos Syndrome: Case Series - 1 Center Experience

Gastrointestinal complications are relatively frequent in Ehlers-Danlos syndrome (EDS). Intestinal dysmotility is significantly more frequent in EDS patients than in general population and it has a very difficult investigational approach, requiring a high clinical suspicion for diagnosis. Therapeutic approach may be challenging in the context of limited options and disabling nature of the disease. EDS is considered a multisystem disease, as connective tissue is present throughout the body, the digestive tract can be affected as well. Previous studies have associated EDS with a spectrum of gastrointestinal complications such as chronic constipation, hiatus hernia, Crohn's disease, fecal incontinence, rectal evacuatory dysfunction, functional gastrointestinal disorder, gastroesophageal reflux, recurrent gastritis, delayed gastric emptying and recurrent abdominal pain. In this case series, the authors report six cases of global gut dysmotility in Ehlers-Danlos syndrome. We try to highlight that EDS can lead to significant gut failure that is not only difficult to diagnose but is challenging to treat. All the patient's required at least one form of nutritional support either by tube feeding or intravenous nutrition. Some of the patient's required surgical intervention to treat the significant dysmotility. The table below shows our patients characteristics, diagnostic and feeding methods and the surgical intervention if needed. All the reported patients were females diagnosed clinically with EDS hypermobility type (type 3), mean age was 24 years, mean BMI was 23 kg /m2. Five of them diagnosed with POTS (cases 1, 2, 3, 4, 5), only one patient had Mast cell activation syndrome (case 1).Three patients were diagnosed with SIBO (cases 3, 4, 6), five patients required parenteral nutrition (cases 1, 2, 4, 5, 6). Five patients needed tube feeds at some point (cases 1, 2, 4, 5, 6). (See table1). Sever gut dysmotility among patients with Ehlers-Danlos syndrome is not uncommon and possibly underdiagnosed. It must always be taken into account when treating EDS patients with persistent gastro-intestinal symptoms, especially in the presence of autonomic dysfunction features (including POTS) and failure to maintain weight.Table: Table. POTS, postural orthostatic tachycardia syndrome; SIBO, small intestinal bacterial overgrowth; MCAS, mast cell activation syndrome; SBFT, small bowel follow through

20 Dissociative experiences in patients with fibromyalgia are mediated by symptoms of autonomic dysfunction

Objective The aim of this study was to determine the basis of dissociative experiences in patients with fibromyalgia, testing a hypothesised link to ‘internal agency’ through interoception and autonomic control. Fibromyalgia is a complex polysymptomatic musculoskeletal disorder affecting 5% of the population. Common neuropsychiatric features include emotional fatigue, subjective cognitive dysfunction (e.g. ‘brain-fog’) and dissociation. The combination of brain-fog and dissociation is linked to higher levels of pain symptom intensity and decreased mental well-being. Patients describe such disturbances are as ‘nearly universal’ and important, yet the mechanisms underlying neuropsychiatric symptoms in fibromyalgia are poorly understood. Interestingly fibromyalgia is associated with dysautonomia, notably orthostatic intolerance. Moreover, fibromyalgia and dysautonomia (e.g. Postural Tachycardia Syndrome; PoTS) are both associated with connective tissue disorders, specifically joint hypermobility syndromes (Ehlers Danlos Syndrome hypermobile type; EDS-HT). Method Twenty-one patients with fibromyalgia (20 female; mean age 41.86 years) and twenty-two healthy controls (16 female; mean age 44.00 years) were recruited. Each participant completed the Dissociative Experiences Scale and the ASQoLS, which measures symptoms of autonomic dysfunction including orthostatic intolerance. All participants underwent assessment for joint hypermobility/EDS-HT using Brighton Criteria. Statistical comparison between groups was performed using independent samples t test. Mediation analyses were conducted according to the method of Baron and Kenny. Results Patients with fibromyalgia reported greater (mean, SEM) dissociative experiences (48.67, 9.99) than the control group (18.14, 2.72), (t40=2.95, p=0.005) and greater symptoms of orthostatic intolerance (41.90, 4.93) than controls (8.64, 1.02), (t41=6.611, p Conclusion In a patient population vulnerable to neuropsychiatric symptoms, we found that dissociative experiences are fully mediated by symptoms of orthostatic intolerance. This is also the first study, to our knowledge, to explore dissociation and orthostatic intolerance in the context of fibromyalgia. Moreover, dissociation and brain-fog appear closely linked and are frequently reported by both patients with fibromyalgia and those with PoTS. Our observations are consistent with the hypothesised basis to dissociative symptoms in abnormalities in self-representation and internal agency linked to autonomic control and interoceptive prediction, revealed by subjective symptoms of orthostatic intolerance. This study suggests possibilities for recognition and treatment of neuropsychiatric symptoms.

Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study).

Elhers-Danlos syndrome (EDS) is the clinical manifestation of connective tissue disorders, and comprises several clinical forms with no specific symptoms and selective medical examinations which result in a delay in diagnosis of about 10 years. The EDS hypermobility type (hEDS) is characterized by generalized joint hypermobility, variable skin hyperextensibility and impaired proprioception. Since somatosensory processing and multisensory integration are crucial for both perception and action, we put forth the hypothesis that somatosensory deficits in hEDS patients may lead, among other clinical symptoms, to misperception of verticality and postural instability. Therefore, the purpose of this study was twofold: (i) to assess the impact of somatosensory deficit on subjective visual vertical (SVV) and postural stability; and (ii) to quantify the effect of wearing somatosensory orthoses (i.e., compressive garments and insoles) on postural stability. Six hEDS patients and six age- and gender-matched controls underwent a SVV (sitting, standing, lying on the right side) evaluation and a postural control evaluation on a force platform (Synapsys), with or without visual information (eyes open (EO)/eyes closed (EC)). These two latter conditions performed either without orthoses, or with compression garments (CG), or insoles, or both. Results showed that patients did not exhibit a substantial perceived tilt of the visual vertical in the direction of the body tilt (Aubert effect) as did the control subjects. Interestingly, such differential effects were only apparent when the rod was initially positioned to the left of the vertical axis (opposite the longitudinal body axis). In addition, patients showed greater postural instability (sway area) than the controls. The removal of vision exacerbated this instability, especially in the mediolateral (ML) direction. The wearing of orthoses improved postural stability, especially in the eyes-closed condition, with a particularly marked effect in the anteroposterior (AP) direction. Hence, this study suggests that hEDS is associated with changes in the relative contributions of somatosensory and vestibular inputs to verticality perception. Moreover, postural control impairment was offset, at least partially, by wearing somatosensory orthoses.