Ehlers-Danlos syndromes (EDSs) constitute a heterogeneous group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Asymptomatic EDSs, joint hypermobility without associated syndromes, EDSs, and hypermobility spectrum disorders are the commonest phenotypes associated with joint hypermobility. Joint hypermobility syndrome (JHS) is a connective tissue disorder characterized by extreme flexibility of the joints, along with pain and other symptoms. JHS can be a sign of a more serious underlying genetic condition, such as EDS, which affects the cartilage, bone, fat, and blood. The exact cause of JHS could be related to genetic changes in the proteins that add flexibility and strength to the joints, ligaments, and tendons, such as collagen. Membrane proteins are a class of proteins embedded in the cell membrane and play a crucial role in cell signaling, transport, and adhesion. Dysregulated membrane proteins have been implicated in a variety of diseases, including cancer, cardiovascular disease, and neurological disorders; recent studies have suggested that membrane proteins may also play a role in the pathogenesis of JHS. This article presents an exploration of the causative factors contributing to musculoskeletal pain in individuals with hypermobility, based on research findings. It aims to provide an understanding of JHS and its association with membrane proteins, addressing the clinical manifestations, pathogenesis, diagnosis, and management of JHS.

To identify the nature and extent of the evidence on psychological interventions among individuals with Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD).
Eligible studies reported on psychological interventions for individuals of all ages with EDS and/or HSD. All studies published in English were included, with no restrictions to publication year or status. MEDLINE, CINAHL, EMBASE, and PsycINFO were searched. Two reviewers independently screened studies and abstracted data.
This scoping review included 10 studies reporting on EDS, HSD, or both. Only cohort studies and case studies were identified. Four studies investigated Cognitive Behavioural Therapy (CBT), one investigated Dialectical Behavioural Therapy (DBT), two investigated psychoeducation, two investigated Intensive Interdisciplinary Pain Treatment (IIPT), and one investigated Acceptance Commitment Therapy (ACT). Interventions targeted pain management, self-destructive behaviours, and related psychological issues (e.g., depression/anxiety). Sample sizes were small (n < 50) for most studies and interventions were generally poorly described.
There is a critical need for high-quality research surrounding psychological interventions for individuals with EDS/HSD. Psychological interventions for these individuals are understudied and existing studies lack validity. Researchers should investigate psychological interventions for individuals with all types of EDS/HSD with high-quality studies to validate findings from the existing studies.

It remains a clinical challenge identifying when joint hypermobility (JH) is responsible for pain. Previous nomenclature utilized terms such as (benign) joint hypermobility syndrome (JHS) but this was updated in 2017 as advances in genetics provide a basis for nearly all variants of Ehlers-Danlos syndrome (EDS) with the exception of hypermobile EDS (hEDS). New terminology describes hypermobility spectrum disorders (HSDs) as the updated term for JHS. Diagnosis of a subtype of HSDs should be considered in patients who have JH coupled with the presence of secondary musculo-skeletal manifestations (trauma, chronic pain, disturbed proprioception, and other manifestations) and at the exclusion of hEDS. Extra-articular manifestations are common. Treatment relies on management strategies for other chronic pain syndromes with a multidisciplinary approach likely optimal. Lifestyle modifications focus on weight loss and exercise. Physical therapy helps strengthen periarticular muscles, improving mobility. Pharmacologic therapies focus on judicious use of non-steroidal anti-inflammatory drugs and acetaminophen. Serotonin and norepinephrine reuptake inhibitor may help widespread pain. Avoidance of opioids remains prudent. The purpose of this review is to provide clinicians the rationale for the update in nomenclature, understand the musculoskeletal and extra-articular manifestations of the subtypes of HSDs, considerations when making the diagnosis, and treatment.

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

Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders that manifest with hyperextensibility of joints and skin, and general tissue fragility. While not a major criterion for clinical diagnosis, pain is a frequently endorsed symptom across subtypes of EDS. As such, the present review aims to summarize research to date on pain characteristics and management, and the relationship between such pain symptomatology and quality of life in pediatric EDS. Characteristics of pain, including theorized etiology, relative intensity and extent of pain are described, as well as descriptions of frequently endorsed pain sites (musculoskeletal, and non-musculoskeletal). Interventions related to the management of musculoskeletal (e.g., pharmaceutical intervention, physical therapy) and non-musculoskeletal pain (e.g., pharmaceutical and psychological interventions) are discussed, highlighting the need for additional research related to pediatric pain management in the context of hypermobility syndromes. In addition, the relationship between pain in pediatric EDS and quality of life is described. Finally, limitations of literature to date are described and recommendations for future lines of research are outlined.

The Ehlers-Danlos syndromes (EDS) and associated hypermobility spectrum disorders (HSD) are a heterogenous group of connective tissue disorders associated with significant morbidity. The urogenital aspects of these disorders are understudied and there is little guidance on the prevalence, types, or outcomes of urogenital complications in EDS/HSD. Our objective was to perform a scoping review to characterize and synthesize the literature reporting urogenital and pelvic complications in EDS/HSD patients. We performed a systematic search of three databases (Medline, CINAHL, Embase) to January 2019. English language, full-text articles reporting on urogenital or pelvic complications in EDS/HSD were included. A total of 105 studies were included (62 case reports/series, 43 observational) involving patients with hypermobile (23%), vascular (20%), classical (12%) EDS, and HSD (24%). Some studies looked at multiple subtypes (11%) or did not report subtype (33%). Reported complications included urinary (41%), gynecological (36%), obstetrical (25%), renal (9%), and men\'s health problems (7%), with some studies reporting on multiple areas. Urinary and gynecological complications were most prevalent in patients with HSD, while a broad range of complications were reported in EDS. While further research is required, results suggest a higher index of suspicion for urogenital problems is probably warranted in this population.

Hypermobile type Ehlers-Danlos syndrome (hEDS) is an underdiagnosed connective tissue disorder characterized by generalized joint hypermobility, chronic fatigue, widespread joints pain, and impaired quality of life. Here, we reported the first hEDS complicated by hypogammaglobulinemia. New insights into classification, diagnosis, and proper management of hEDS are also reviewed.

UNASSIGNED: Hypermobility Spectrum Disorder and Hypermobile Ehlers Danlos Syndrome are two common heritable genetic disorders of connective tissue. Both conditions are characterised by excessive joint range of motion and the presence of musculoskeletal symptoms, and are associated with joint instability, motion incoordination, decreased joint position sense, and musculoskeletal pain. Hypermobility Spectrum Disorder is the new classification for what was previously known as Joint Hypermobility Syndrome. This systematic review evaluates the evidence for physical and mechanical treatments for lower limb problems in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers Danlos Syndrome.
UNASSIGNED: MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, PUBMED and CINAHL were searched to October 2017 for randomised controlled trials (RCT) and quasi-RCTs evaluating physical and mechanical interventions for lower limb problems in children with hypermobility. Two authors independently screened studies for eligibility for inclusion and three review authors independently assessed risk of bias of included studies. One author extracted and analysed statistical data, which were checked by a second author.
UNASSIGNED: Two RCTs including a total of 86 participants were eligible for inclusion. Trials evaluated differences between generalised versus targeted physiotherapy programs and between performing knee extension exercises to the neutral versus hypermobile range. There was no clear benefit of any of the physical therapies evaluated.
UNASSIGNED: There is very limited evidence to guide the use of physical and mechanical therapies for lower limb problems in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers Danlos Syndrome. Mechanical therapies have not been evaluated in RCTs and results of the two RCTs of physical therapies do not definitively guide physical therapy prescriptions. Current studies are limited by small sample sizes and high attrition rates. No physical therapy has been compared to a sham intervention no intervention or no intervention, so overall effectiveness is unknown.

BACKGROUND: Joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome hypermobility type (EDS-HT) is the most common hereditary non-inflammatory disorder of connective tissue, characterized by a wide range of symptoms, mainly joint hyperextensibility and musculoskeletal symptoms. A majority of patients also experiences gastrointestinal (GI) symptoms. Furthermore, JHS/EDS-HT has specifically been shown to be highly prevalent in patients with functional GI disorders, such as functional dyspepsia and irritable bowel syndrome.
OBJECTIVE: The aim of this review was to examine the nature of GI symptoms and their underlying pathophysiology in JHS/EDS-HT. In addition, we consider the clinical implications of the diagnosis and treatment of JHS/EDS-HT for practicing clinicians in gastroenterology. Observations summarized in this review may furthermore represent the first step toward the identification of a new pathophysiological basis for a substantial subgroup of patients with functional GI disorders.