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Concept: Contortion


There is a clinical overlap between classic Ehlers-Danlos syndrome (cEDS) and benign joint hypermobility syndrome (BJHS), with hypermobility as the main symptom. The purpose of this study was to investigate the role of type V collagen mutations and tendon pathology in these 2 syndromes. In patients (cEDS, n=7; BJHS, n=8) and controls (Ctrl, n=8), we measured patellar tendon ultrastructure (transmission electron microscopy), dimensions (magnetic resonance imaging), and biomechanical properties (force and ultrasonographic measurements during a ramped isometric knee extension). Mutation analyses (COL5A1 and COL5A2) were performed in the patients. COL5A1 mutations were found in 3 of 4 of the patients with cEDS. Patellar tendon dimensions were similar between the groups, but large, irregular collagen fibrils were in 4 of 5 patients with cEDS. In the cEDS group, tendon stiffness and Young’s modulus were reduced to ∼50% of that in BJHS and Ctrl groups (P<0.05). The nonhypermobile, healthy controls were matched with the patients in age, sex, body weight, and physical activity, to compare outcomes. COL5A1 mutations led to structural tendon pathology and low tendon stiffness in cEDS, explaining the patients' hypermobility, whereas no tendon pathology was found that explained the hypermobility in BJHS.-Nielsen, R. H., Couppé, C., Jensen, J. K., Olsen, M. R., Heinemeier, K. M., Malfait, F., Symoens, S., De Paepe, A., Schjerling, P., Magnusson, S. P., Remvig, L., Kjaer, M. Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients.

Concepts: Collagen, Syndromes, Marfan syndrome, Young's modulus, Ehlers-Danlos syndrome, Hypermobility, Contortion, Type-V collagen


Joint Hypermobility Syndrome, also known as Ehlers-Danlos Syndrome Hypermobility Type (JHS/EDS-HT), is a heritable disorder of connective tissue, common but poorly known by the medical community. Although generalized joint hypermobility and fragility of tissues have been described as core features, recent research highlights the multisystemic nature of JHS/EDS-HT, which presents with a wide range of articular and extra-articular symptoms. Among these, gastrointestinal problems, temporomandibular disorders, and smell and taste abnormalities are common among those affected, having significant implications for eating. The present work reviews the literature linking JHS/EDS-HT and eating problems. Two illustrative case reports, in which JHS/EDS-HT manifestations contribute to developing and maintaining disturbed eating behaviors and significant weight loss, are presented.

Concepts: Present, Collagen, Syndromes, Marfan syndrome, Connective tissue, Ehlers-Danlos syndrome, Hypermobility, Contortion


In the last decade, increasing attention has been devoted to the extra-articular and extra-cutaneous manifestations of joint hypermobility syndrome, also termed Ehlers-Danlos syndrome, hypermobility type (i.e., JHS/EDS-HT). Despite the fact that the current diagnostic criteria for both disorders remain focused on joint hypermobility, musculoskeletal pain and skin changes, medical practice and research have started investigating a wide spectrum of visceral, neurological and developmental complications, which represent major burdens for affected individuals. In particular, children with generalized joint hypermobility often present with various neurodevelopmental issues and can be referred for neurological consultation. It is common that investigations in these patients yield negative or inconsistent results, eventually leading to the exclusion of any structural neurological or muscle disorder. In the context of specialized clinics for connective tissue disorders, a clear relationship between generalized joint hypermobility and a characteristic neurodevelopmental profile affecting coordination is emerging. The clinical features of these patients tend to overlap with those of developmental coordination disorder and can be associated with learning and other disabilities. Physical and psychological consequences of these additional difficulties add to the chief manifestations of the pre-existing connective tissue disorder, affecting the well-being and development of children and their families. In this review, particular attention is devoted to the nature of the link between joint hypermobility, coordination difficulties and neurodevelopmental issues in children. Presumed pathogenesis and management issues are explored in order to attract more attention on this association and nurture future clinical research. © 2015 Wiley Periodicals, Inc.

Concepts: Medicine, Collagen, Syndromes, Marfan syndrome, Connective tissue, Ehlers-Danlos syndrome, Hypermobility, Contortion



Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associated with chronic pain, skin fragility and abnormal bleeding. These characteristics may hamper reproductive life. We conducted a study to evaluate the gynecologic and obstetric outcomes in women with hEDS. We also explored a possible hormonal modulation of the hEDS symptoms. The gynecologic and obstetric history of 386 consecutive women diagnosed with hEDS was collected by a standardized questionnaire and a medical consultation performed by a senior gynecologist in an expert centre for hEDS between May 2012 and December 2014.

Concepts: Blood, Collagen, Syndromes, Marfan syndrome, Connective tissue, Ehlers-Danlos syndrome, Hypermobility, Contortion


The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc.

Concepts: Collagen, The Canon of Medicine, Syndromes, Marfan syndrome, Connective tissue, Ehlers-Danlos syndrome, Hypermobility, Contortion


Lowered pressure pain thresholds have been demonstrated in adults with Ehlers-Danlos Hypermobility type(EDS-HT), however it remains unclear if these findings are also present in children. Therefore, the objectives of the study were to: (1)determine if generalized hyperalgesia is present in Hypermobility syndrome (HMS)/EDS-HT children, (2)explore potential differences in pressure pain thresholds between HMS/EDS-HT children and adults, and (3)determine the discriminative value of generalized hyperalgesia.

Concepts: Syndromes, Marfan syndrome, Ehlers-Danlos syndrome, Hypermobility, Contortion, Diseases involving the fasciae


Many individuals with Ehlers-Danlos Syndrome (EDS) are hypermobile, suffer from long term pain, and have complex health problems. Since these sometimes have no objective physical signs, individuals with EDS sometimes are referred for psychiatric evaluation. The aim was therefore to identify the level of anxiety and quality of life in a Swedish group of individuals with EDS.

Concepts: Psychology, Medicine, Syndromes, Marfan syndrome, Mental status examination, Ehlers-Danlos syndrome, Hypermobility, Contortion


To investigate whether orthostatic intolerance (OI) is a significant predictor for fatigue in Ehlers-Danlos Syndrome, hypermobility type (EDS-HT).

Concepts: Syndromes, Marfan syndrome, Postural orthostatic tachycardia syndrome, Ehlers-Danlos syndrome, Hypermobility, Orthostatic intolerance, Contortion, Diseases involving the fasciae


This study provides insight into the profile and importance of autonomic symptoms in the hypermobility type (HT) of Ehlers-Danlos syndrome (EDS). The impact of these symptoms is put into perspective by comparing with fibromyalgia (FM) and two other EDS types.

Concepts: Syndromes, Marfan syndrome, Fatigue, Ehlers-Danlos syndrome, Hypermobility, Contortion, Diseases involving the fasciae