A group of connective tissue disorders causing joint hypermobility, skin fragility, and chronic pain.
✦ AI summary
Ehlers-Danlos Syndrome (EDS) is actually a group of inherited connective tissue disorders that affect collagen, leading to overly flexible joints, stretchy or fragile skin, and in some cases fragile blood vessels [1,2]. People with EDS commonly deal with joint dislocations, chronic pain, fatigue, digestive issues, blood pressure/circulation problems, anxiety, and bladder or pelvic issues, and care usually involves a team of specialists (physical therapy, pain management, skin care, nutrition), with surgery considered only when other treatments haven't worked [1,2]. A survey of people with the hypermobile type found that most reported their symptoms weren't well managed, with disability affecting many areas of daily life, especially when financial barriers to care existed [6]. Research also shows people being evaluated for EDS report high rates of self-harm and past suicide attempts, linked in part to joint hypermobility, autonomic nervous system problems, and co-occurring mental health symptoms — highlighting a need for more psychological support and study [7]. A more specific and serious form, vascular EDS, involves a faulty collagen gene and carries a high risk of artery tearing or rupture, so gu
This is an AI-generated summary of the sources below — not medical advice. Always talk to a doctor or pharmacist about your own situation.
Complications and Management of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders: A Literature Review.
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting collagen and extracellular matrix proteins, which can cause skin hyperelasticity, joint hypermobility, atrophic scarring, and blood vessel fragility. Complications include joint dislocation, chronic pain, fatigue, functional ga…
Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study.
Marfan syndrome is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin-1-encoding gene. The cancer risk in Marfan syndrome is not fully understood, but recent reports have suggested an increased risk in adults. This study assessed cancer risk in Marfan syn…
Tissue vulnerability revealed by ultrastructural skin analysis as a surrogate for arterial integrity in two cases of vascular Ehlers-Danlos syndrome.
Clinical presentation and operative outcomes in vascular Ehlers-Danlos syndrome (VEDS) are heterogeneous. We present two patients with genetically confirmed VEDS who exhibited markedly different iliac pathology phenotypes. One ruptured a common iliac artery at a near-normal diameter and the other to…
Arterial tortuosity syndrome presenting as severe precapillary pulmonary hypertension in adulthood.
Arterial tortuosity syndrome (ATS) is an ultra-rare hereditary connective tissue disorder characterized by elongation and extreme tortuosity of medium- and large-caliber arteries. Adult presentation is exceptional, and pulmonary arterial involvement as a cause of severe precapillary pulmonary hypert…
Hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome: patient experiences, disability and implications for rehabilitation.
The diagnosis and management of hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome (HSD/hEDS) are a healthcare challenge because of the wide array of symptoms, lack of diagnostic biomarkers, and evolving management guidelines. This study aimed to describe patient experiences, di…
Non-suicidal self-injury and suicide attempts among individuals seeking assessment for Ehlers-Danlos Syndromes.
Individuals with Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobility Spectrum Disorder (G-HSD) experience psychological distress and are at an increased risk for suicidal behaviors. The current study examined associations between factors uniquely relevant to this population and prior suicide…
Geroderma Osteodysplastica in Two Patients: Clinical, Genetic, and Management Insights.
Geroderma osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder caused by pathogenic variants in the GORAB gene, characterized by premature skin ageing, joint laxity, and osteoporosis leading to recurrent fragility fractures. We described two adult Saudi patients with geneti…