A novel method of assessing balance and postural sway in patients with hypermobile Ehlers-Danlos syndrome
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PROVIDER: S-EPMC10312239 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
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Project description:Ehlers-Danlos Syndrome refers to a spectrum of connective tissue disorders that have a variety of clinical manifestations. In this case, we present a spontaneous diaphragmatic rupture in a patient with type III Ehlers-Danlos Syndrome. The patient presented with worsening shortness of breath after failure of medical therapy for a presumed pneumonia. A CT scan was obtained which showed diaphragmatic rupture with splenic herniation which was repaired in the operating room via thoracotomy. It is important to include diaphragmatic rupture in the differential diagnosis for patients with connective tissue disease and acute onset tachypnea and pain, as this complication has the potential for significant morbidity without prompt surgical intervention.
| S-EPMC5530413 | biostudies-other
Project description:Introduction: Mitral valve prolapse and aortic root dilatation are reported in association with hypermobile Ehlers-Danlos syndrome (hEDS), but the full phenotypic spectrum of cardiovascular complications in this condition has not been studied in the aftermath of updated nosology and diagnostic criteria. Methods: We performed a retrospective review of 258 patients (> 94% adults) referred to a multidisciplinary clinic for evaluation of joint hypermobility between January 2017 and December 2020 and diagnosed with hEDS or a hypermobility spectrum disorder (HSD) to determine the incidence and spectrum of cardiovascular involvement. Results: Mitral valve prolapse was present in 7.5% and thoracic aortic dilatation in 15.2%. Aortic dilatation was more frequent in individuals with hEDS (20.7%) than with HSD (7.7%) and similarly prevalent between males and females, although was mild in > 90% of females and moderate-to-severe in 50% of males. Five individuals (1.9%) with hEDS/HSD had extra-aortic arterial involvement, including cervical artery dissection (CeAD, n = 2), spontaneous coronary artery dissection (SCAD, n = 2), and SCAD plus celiac artery pseudoaneurysm (n = 1). This is the first series to report the prevalence of CeAD and SCAD in hEDS/HSD. Conclusions: Cardiovascular manifestations in adults with hEDS/HSD, especially females, are typically mild and readily assessed by echocardiography. Since the risk of progression has not yet been defined, adults with hEDS/HSD who are found to have aortic dilatation at baseline should continue ongoing surveillance to monitor for progressive dilatation. Cardiovascular medicine specialists, neurologists, and neurosurgeons should consider hEDS/HSD on the differential for patients with CeAD or SCAD who also have joint hypermobility.
| S-EPMC9677229 | biostudies-literature
Project description:Ehlers-Danlos Syndrome (EDS) refers to a group of connective tissue disorders characterized by significant clinical and genetic variability, affecting multiple systems in the body. Classified as a rare disease, EDS includes 14 subtypes, all marked by joint hypermobility, skin extensibility, and tissue fragility. These subtypes present with a wide range of clinical manifestations and severities, including frequent joint dislocations, scoliosis, arterial dissections, and organ ruptures. Hypermobile EDS (hEDS) is the most common subtype, with newly established clinical diagnostic guidelines. In this case, a patient presented with minor hemoptysis over 8 h, and a chest CT scan revealed a massive hematoma in the left lower lung. Due to the complexity and varied presentations of EDS, misdiagnosis is common. This report shares our experience with diagnosis and treatment in this case, highlighting the importance of increasing awareness for improved survival outcomes.
| S-EPMC11841416 | biostudies-literature
Project description: Not available
| S-EPMC9796626 | biostudies-literature
Project description:BackgroundPeople with Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders are hampered in their social participation, especially in the social relationships they have.ObjectiveThe aim of this study is to research the impact of hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobile Spectrum Disorders (HSD) on interpersonal interactions and relationships.MethodsA phenomenological hermeneutic study was performed. Semi-structured interviews were used to explore the experiences of 11 participants.ResultsFour themes emerged from the data analysis. (1) people with hEDS or HSD can no longer do what they want to do and that affects their identity, (2) people with hEDS or HSD have to find a balance in the amount of activities they participate in, (3) having hEDS or HSD influences how to ask for, accept and give help, and (4) Relationships are affected in persons with hEDS or HSD. As well as changes in the social network, different types of relationships are influenced by the disease, including relationship with their partner, their children, their friends, strangers, fellow-sufferers and health care professionals.
| S-EPMC9397711 | biostudies-literature
Project description:BackgroundThe hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are connective tissue disorders characterized by generalized joint hypermobility, associated with chronic pain and several symptoms, such as fatigue, dysautonomia, as well as psychiatric co-morbidities. Clinical observations of unusual manifestations during systematic sensory testing raised the question of a possible co-existence with a functional neurological disorder (FND). Hence, this study aimed to assess the presence of positive functional neurological signs (FNS) in a cohort of patients with hEDS/HSD.MethodsThe clinical data of hEDS/HSD patients (N = 24) were retrospectively analyzed and compared to a prospectively recruited age-/sex-matched healthy control group (N = 22). Four motor- and three sensory-positive FNS were assessed.ResultsTwenty-two patients (92%) presented at least one motor or sensory FNS. Five patients (21%) presented only a single FNS, 14 presented between 2 and 4 FNS (58%), and 3 patients presented 5 or more FNS (12%). None of the healthy controls presented motor FNS, and only two presented a sensory FNS.ConclusionsThe presence of FNS in hEDS/HSD deserves better clinical detection and formal diagnosis of FND to offer more adequate care in co-morbid situations. In fact, FND can severely interfere with rehabilitation efforts in hEDS/HSD, and FND-targeted physical therapy should perhaps be combined with EDS/HSD-specific approaches.
| S-EPMC10897362 | biostudies-literature
Project description:Efforts on recognition, diagnosis, and management of the presumed, most common connective tissue disorder hypermobile Ehlers-Danlos syndrome have been an ongoing challenge, even decades after the description of this condition. A recent international consortium proposed a revised Ehlers-Danlos syndrome classification, an update much needed since Villefranche nosology, in 1998. Hypermobile Ehlers-Danlos syndrome is the only subtype in these groups of syndromes with no known genetic cause(s). This effort brought significant attention to this often underappreciated condition. This review provides an update of the clinical and genetic aspects of hypermobile Ehlers-Danlos syndrome for clinicians and researchers.
| S-EPMC6335943 | biostudies-other
Project description:BackgroundWhile an association between full mutation CGG-repeat expansions of the Fragile X Mental Retardation 1 (FMR1) gene and connective tissue problems are clearly described, problems in fragile X premutation carriers (fXPCs) CGG-repeat range (55-200 repeats) of the FMR1 gene may be overlooked.ObjectiveTo report five FMR1 fXPCs cases with the hypermobile Ehlers-Danlos syndrome (hEDS) phenotype.MethodsWe collected medical histories and FMR1 molecular measures from five cases who presented with joint hypermobility and loose connective tissue and met inclusion criteria for hEDS.ResultsFive cases were female and ranged between 16 and 49 years. The range of CGG-repeat allele sizes ranged from 66 to 150 repeats. All had symptoms of hEDS since early childhood. Commonalities in molecular pathogenesis and coexisting conditions between the fXPCs and hEDS are also presented. The premutation can lead to a reduction of fragile X mental retardation protein, which is crucial in maintaining functions of the extracellular matrix-related proteins, particularly matrix metallopeptidase 9 and elastin. Moreover, elevated FMR1 messenger RNA causes sequestration of proteins, which results in RNA toxicity.ConclusionBoth hEDS phenotype and premutation involvement may co-occur because of related commonalities in pathogenesis.
| S-EPMC8717836 | biostudies-literature
Project description:Diagnosing hypermobile Ehlers-Danlos syndrome (hEDS) remains challenging, despite new 2017 criteria. Patients not fulfilling these criteria are considered to have hypermobile spectrum disorder (HSD). Our first aim was to evaluate whether patients hEDS were more severely affected and had higher prevalence of extra-articular manifestations than HSD. Second aim was to compare their outcome after coordinated physical therapy. Patients fulfilling hEDS/HSD criteria were included in this real-life prospective cohort (November 2017/April 2019). They completed a 16-item Clinical Severity Score (CSS-16). We recorded bone involvement, neuropathic pain (DN4) and symptoms of mast cell disorders (MCAS) as extra-articular manifestations. After a standardized initial evaluation (T0), all patients were offered the same coordinated physical therapy, were followed-up at 6 months (T1) and at least 1 year later (T2), and were asked whether or not their condition had subjectively improved at T2. We included 97 patients (61 hEDS, 36 HSD). Median age was 40 (range 18-73); 92.7% were females. Three items from CSS-16 (pain, motricity problems, and bleeding) were significantly more severe with hEDS than HSD. Bone fragility, neuropathic pain and MCAS were equally prevalent. At T2 (20 months [range 18-26]) 54% of patients reported improvement (no difference between groups). On multivariable analysis, only family history of hypermobility predicted (favorable) outcome (p = 0.01). hEDS and HDS patients showed similar disease severity score except for pain, motricity problems and bleeding, and similar spectrum of extra-articular manifestations. Long-term improvement was observed in > 50% of patients in both groups. These results add weight to a clinical pragmatic proposition to consider hEDS/HSD as a single entity that requires the same treatments.
| S-EPMC8390400 | biostudies-literature
Project description:Patients with hypermobile Ehlers-Danlos syndrome commonly present with painful shoulder disorders mostly represented by a multidirectional instability and with often painless episode of atraumatic shoulder dislocation and/or subluxation. Because of the generalized soft tissue fragility, most of the surgical treatments of shoulder instability, as the Bankart repair or the Latarjet procedure becomes not effective, exposing a risk of failure. Then, capsular plication has to be considered in order to reduce the articular joint volume and to diminish the mobility of the joint. Two main benefits of this surgical procedure are that it doesn't modify the anatomy or damage the labrum or cartilage that is healthy. The purpose of this Technical Note is to present the arthroscopic capsular plication for the treatment of patient with hypermobile Ehlers-Danlos syndrome, which is associated with a multidirectional shoulder instability.
| S-EPMC8719266 | biostudies-literature