Joint hypermobility and skin elasticity: the hereditary disorders of connective tissue

2006 ◽  
Vol 24 (6) ◽  
pp. 521-533 ◽  
Author(s):  
Alan J. Hakim ◽  
Anshoo Sahota
Keyword(s):  
Connective Tissue ◽  
Joint Hypermobility ◽  
Skin Elasticity ◽  
Hereditary Disorders

scholarly journals Phenotypic characteristics of young men and women depending on the type of constitution and low body weight

2020 ◽  
Vol 11 (1) ◽  
pp. 27-35
Author(s):  
Eugene V. Timofeev ◽  
Bayazit I. Zaripov ◽  
Tatiana I. Belousova ◽  
Elena V. Vutrih ◽  
Svetlana V. Reeva ◽  
...  
Keyword(s):  
Body Weight ◽  
Young People ◽  
Connective Tissue ◽  
Young Men ◽  
Joint Hypermobility ◽  
Sex Type ◽  
Chest Deformity ◽  
Hereditary Disorders ◽  
Reliable Marker ◽  
Chest Deformities

Asthenic type of constitution and low body weight are traditionally associated with hereditary disorders (dysplasia) of connective tissue (HDCT). Another specific signs of HDCT is dolichostenomelia (skeletal imbalances). The prevalence of signs of dysembryogenesis and skeletal imbalances in young people depending on sex, type of constitution and body mass deficiency have not been previously assessed. Materials and methods. We examined 967 practically healthy people aged 18 to 25 years (330 boys and 637 girls) and 119 boys with a diagnosis of body weight deficiency by help general examination, phenotypic and anthropometric examinations. Results. Most bone signs of dysembryogenesis significantly often detected in young men: keel-shaped chest deformity (4% vs 1%, p 0.01) and funnel chest deformity (19% vs 9%, p 0.01) deformations of thorax, high palate (39% vs 28%, p 0.01), the growth of teeth (36% vs 19%, p 0.01) and dolichostenomelia. Girls are characterized by a high frequency of joint hypermobility (50% vs 24%) and atrophic striae (30% vs 14%, p 0.01). The bone signs (symptoms of arachnodactyly and chest deformities) detected more often in people with body weight deficiency, and the skin signs and joint hypermobility revealed more often in young people with normotrophy. Comparison of the frequency of signs of dysembryogenesis and skeletal imbalances in groups with asthenic and normal constitution did not reveal differences. All of external signs were found with equal frequency in individuals with different types of physique. Conclusions. Body weight deficiency in young men is closely related to bone signs of dysembryogenesis, while the asthenic type of constitution is not a reliable marker of connective tissue defect.

scholarly journals Hereditary disorders of connective tissue: A guide to the emerging differential diagnosis

2010 ◽  
Vol 12 (6) ◽  
pp. 344-354 ◽  
Author(s):  
Maureen Murphy-Ryan ◽  
Apostolos Psychogios ◽  
Noralane M Lindor
Keyword(s):  
Differential Diagnosis ◽  
Connective Tissue ◽  
Hereditary Disorders

Joint hypermobility and the heritable disorders of connective tissue: clinical and empirical evidence of links with psychiatry

2015 ◽  
Vol 37 (1) ◽  
pp. 24-30 ◽  
Author(s):  
Carolina Baeza-Velasco ◽  
Guillem Pailhez ◽  
Antonio Bulbena ◽  
Amaria Baghdadli
Keyword(s):  
Connective Tissue ◽  
Empirical Evidence ◽  
Joint Hypermobility

Arterial complications in classical Ehlers-Danlos syndrome: a case series

2020 ◽  
Vol 57 (11) ◽  
pp. 769-776
Author(s):  
Chloe Angwin ◽  
Angela F Brady ◽  
F Michael Pope ◽  
Anthony Vandersteen ◽  
Duncan Baker ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Case Series ◽  
Joint Hypermobility ◽  
Vascular Complication ◽  
Aortic Aneurysms ◽  
Vascular Events ◽  
Ehlers Danlos Syndrome ◽  
Arterial Complications ◽  
Arterial Complication ◽  
Increased Risk

BackgroundThe Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders with several recognised types. Patients with a type of EDS have connective tissue abnormalities resulting in a varying degree of joint hypermobility, skin and vascular fragility and generalised tissue friability. Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in COL5A1 or COL5A2. The cardinal features of cEDS are hyperextensible skin, atrophic scarring and joint hypermobility. Arterial complications are more characteristically a feature of vascular EDS although individual cases of arterial events in cEDS have been reported.MethodsA cohort of 154 patients with a clinical diagnosis of cEDS from the UK was analysed.ResultsSeven patients (4.5%) with a diagnosis of cEDS (four pathogenic, one likely pathogenic and two variants of uncertain significance in COL5A1) who had experienced arterial complications were identified. Arterial complications mostly involved medium-sized vessels and also two abdominal aortic aneurysms. No unique clinical features were identified in this group of patients.ConclusionThere is a possible increased risk of arterial complications in patients with cEDS, although not well-defined. Clinicians need to be aware of this possibility when presented with a patient with an arterial complication and features of cEDS. Long-term management in families with cEDS and a vascular complication should be individually tailored to the patient’s history and their family’s history of vascular events.

scholarly journals Joint hypermobility and its relevance to common mental illness in adolescents: a population-based longitudinal study

2020 ◽  
Author(s):  
Jessica A Eccles ◽  
Hannah E Scott ◽  
Kevin A Davies ◽  
Rod Bond ◽  
Anthony S David ◽  
...  
Keyword(s):  
Mental Illness ◽  
Longitudinal Study ◽  
Connective Tissue ◽  
Common Mental Disorders ◽  
Joint Hypermobility ◽  
Birth Cohort Study ◽  
Sensitivity Index ◽  
Depression And Anxiety ◽  
Data Set ◽  
Generalized Joint Hypermobility

Importance: Depression and anxiety are common mood disorders that show higher prevalence in adults with joint hypermobility, a consequence of a constitutional variant of connective tissue structure. In adolescents, an association between mood disorder and hypermobility may enhance the potential understanding of risk factors for emotional disorder and provide opportunities for early intervention approaches. Objective: To test the hypothesis that joint hypermobility, a consequence of constitutional variant of connective tissue, is associated with common mental illness in adolescents. Design: This was a longitudinal prospective study. Setting: The Avon Longitudinal Study of Parents and Children (ALSPAC) is a prospective ongoing general population birth cohort study based in Avon County, England. Participants: The original data set comprised 6105 individuals from the cohort with data available on joint hypermobility at age 14 years; a sub-sample (n=3803) had later psychiatric assessments. Measurement of Exposure: Joint hypermobility was measured by physical examination at age 14 and 18 years, using the Beighton Scale Main Outcome and Measures: Participants were assessed at age 18 years. ICD 10 diagnoses of Depression and Anxiety were obtained using the Clinical Interview Schedule-Revised (CIS R) and levels of anxiety quantified using the Anxiety Sensitivity Index (ASI) Results: Presence of generalized joint hypermobility (GJH) at age 14 years predicted depression at 18 years in males (Odds Ratio (OR) 2.10; 95%CI, 1.17 - 3.76) but not females. After accounting for missing data it was determined that this relationship was mediated by heart rate, a potential measure of physiological arousal. Symptomatic hypermobility ((GJH plus chronic widespread pain (CWP)) at age 18 years was further associated with the presence of anxiety disorder (OR 3.13; 95% CI 1.52 - 6.46) and level of anxiety (Beta = 0.056, t(3315)=3.27), depressive disorder (adjusted OR 3.52; 95%CI, 1.67 - 7.40) and degree of psychiatric symptomatology (Beta 0.096, t(2064)=4.38) Conclusions and relevance: Generalized joint hypermobility and symptomatic hypermobility are associated with common mental disorders in adolescence. Consideration of hypermobility may provide important opportunities for intervention to mitigate psychiatric disorder.

scholarly journals Role of heritable connective tissue diseases phenotypes in assessing the risk for internal diseases

2014 ◽  
Vol 95 (4) ◽  
pp. 501-505
Author(s):  
A V Tyurin ◽  
R A Davletshin ◽  
R M Muratova
Keyword(s):  
Mitral Valve ◽  
Connective Tissue ◽  
Mitral Valve Prolapse ◽  
Musculoskeletal Diseases ◽  
Connective Tissue Diseases ◽  
Joint Hypermobility ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Systemic Manifestations

Aim. To identify the prevalence of main phenotypes of polygenic heritable connective tissue diseases in patients with internal diseases and to assess the prevalence of different internal diseases in such patients. Methods. The study involved 600 patients (254 males, 346 females) aged 18 to 64 years. Average age of males was 52±3.8 years, females - 47±2.2 years. Patients were examined to reveal the signs of different phenotypes of heritable connective tissue diseases in patients with internal diseases, as well as the severity of connective tissue diseases, and possibilities for it screening using the wrist and thumb hypermobility tests. Results. Signs of heritable connective tissue diseases were revealed in 147 (24.5%) patients with internal diseases. In females, those signs were observed in 104 (30.0%) cases, of which 44 (42.3%) were graded as mild, 35 (33.7%) - moderate, 25 (24.0%) - severe. In males, signs of heritable connective tissue diseases were revealed in 43 cases (16.9%), including mild - 17 (39.5%), moderate - 14 (32.5%) and severe - 12 (28.0%). Ehlers-like phenotype was the most common (52.0%), Marfan-like phenotype was observed in 14.0% of cases, primary mitral valve prolapse was diagnosed in 7.0% of patients, unclassifiable phenotype was observed in 11.0% of cases. Joint hypermobility syndrome was revealed in 31.0% of patients, presenting both as specific phenotypes (Marfan-like, Ehlers-like) and as a self-phenotype (31.9% of all the patients with heritable connective tissue diseases phenotype). Benign joint hypermobility was observed in 6.1% of cases. Symptoms of heritable connective tissue diseases were more frequent in patients with gastrointestinal and musculoskeletal diseases. Conclusion. The most common phenotype of heritable connective tissue diseases is Ehlers-like with skin, bone and systemic manifestations. Presence of heritable connective tissue diseases was most commonly associated with gastrointestinal and musculoskeletal diseases.

scholarly journals Considerations for lactation with Ehlers-Danlos syndrome: a narrative review

2022 ◽  
Vol 17 (1) ◽  
Author(s):  
Jimi Francis ◽  
Darby D. Dickton
Keyword(s):  
Connective Tissue ◽  
Human Milk ◽  
Joint Hypermobility ◽  
Narrative Review ◽  
Diagnostic Methods ◽  
Care Providers ◽  
Ehlers Danlos Syndrome ◽  
Lack Of Information ◽  
Skin Fragility ◽  
Danlos Syndrome

Abstract Background Ehlers-Danlos syndrome (EDS) is a rare genetic connective tissue condition that is poorly understood in relation to lactation. As diagnostic methods improve, prevalence has increased. EDS, a disorder that impacts connective tissue, is characterized by skin extensibility, joint hypermobility, and fragile tissue which can affect every organ and body system leading to complications during pregnancy, delivery, and the postpartum period. Traits of this disease can cause mild to severe physiologic and functional obstacles during lactation. Unfortunately, there is little clinical evidence and minimal guidance for lactation management, and providers may feel uncomfortable and hesitant to address these concerns with patients due to a lack of readily available resources on the subject and inexperience with such patients. This narrative review describes and discusses the types of EDS, identifying symptoms, considerations, and precautions for care providers to implement during lactation and breastfeeding. Methods An electronic search of relevant citations was conducted using the databases Cochrane, PubMed, and Google Scholar from 1 January 2000 to 1 November 2021. Search terms used were Ehlers-Danlos syndrome, Hypermobility Syndrome, breastfeeding, lactation, breastmilk expression, breastmilk collection, human milk expression, human milk collection, and infant feeding. The search of these databases yielded zero results. As no research articles on EDS were directly related to lactation, this narrative review includes articles found that related to the health of mothers relevant to maternal function during lactation. Discussion For the healthcare provider, identifying characteristics of EDS can improve the management of lactation challenges. Mothers may experience generalized symptoms from gastrointestinal distress to fatigue or chronic pain, while they also may suffer from more specific joint complaints and injuries, such as dislocations / subluxations, or skin fragility. Such obstacles can generate impediments to breastfeeding and create unique challenges for breastfeeding mothers with EDS. Unfortunately, new mothers with these symptoms may have them overlooked or not addressed, impacting a mother’s ability to meet her breastfeeding intentions. While there are some published research manuscripts on EDS and pregnancy, there is a lack of information regarding breastfeeding and lactation. Additional research is needed to help guide EDS mothers to achieve their breastfeeding intentions.

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