: What age is vascular eds diagnosed . For most types, such as hypermobile EDS (hEDS) and classical EDS (cEDS), life expectancy is generally normal, with patients facing chronic symptoms like pain, joint instability, and skin fragility rather than life-threatening complications. Read about symptoms, diagnosis, management, genetic factors and more. While early diagnosis is possible, misdiagnoses and lack of awareness mean many people wait years for answers Oct 14, 2021 · People who suffer from Ehlers-Danlos syndrome (EDS) may experience bladder issues such as stress incontinence or infection in the bladder. Vascular Ehlers-Danlos (vEDS) impacts arteries and internal organs making them extremely fragile. These can include joint hypermobility, stretchy skin and tissue fragility. It commonly affects your skin and joints. There is a perceived lack of awareness within the medical fraternity on this condition. Characterized by articular hypermobility, skin exten-sibility and tissue fragility, individuals with EDS have a defect in their connec-tive tissue. This paper reviews contemporary evidence to enhance the understanding of this complex condition. Typical clinical manifestations are skin hyperelasticity, hypermobility of joints, the fragility of blood vessels, and atrophic scarring. Two years later, she shares her experience coming to terms with a VEDS diagnosis. Poor awareness of the condition amongst medical professionals means that it can go undiagnosed. It is an autosomal dominant condition for which genetic testing is required for a definitive diagnosis [1]. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. It is important to know that while the Beighton Scoring System is helpful to quantify the degree of hypermobility, it is limited by its lack of Key aspects of care focus on monitoring and managing arterial and organ fragility. Geographic Location: Certain types of EDS may be more prevalent in specific populations or geographic regions. There’s no cure, but your healthcare provider will help you find treatments to manage the symptoms and prevent dangerous complications. Misdiagnoses of fibromyalgia and ME/chronic fatigue syndrome, and the label of irritable How is Ehlers-Danlos Syndrome diagnosed and treated? If your child has EDS, a specialist usually gives a diagnosis only after reviewing medical and family history and performing a physical exam. Learn about Vascular Ehlers-Danlos Syndrome (VEDS), how it affects the body and who is affected from The VEDS Movement, a division of The Marfan Foundation. Understanding EDS and Its Types EDS encompasses 13 different EDS DIAGNOSIS In many people without a family history of the condition a diagnosis of vascular EDS is not considered until they present with a medical emergency such as dissection or rupture of an artery, an organ rupture (for example bowel or womb) or after the discovery of one or more aneurysms (a swelling in an artery). Sep 23, 2024 · Comprehensive guide on clinical manifestations and diagnosis of Ehlers-Danlos syndromes, including symptoms, diagnostic criteria, and management strategies. Ehlers-Danlos (EDS) is a name given to a group of connective tissue disorders. It is COL3A1 an autosomal dominant condition for which genetic testing is required for a denitive diagnosis [1]. Aug 25, 2022 · Diagnosis Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Hypermobility Ehlers-Danlos Vascular Ehlers-Danlos syndrome (VEDS) is a genetic condition that makes the arteries and hollow organs prone to tear, due to a mutation in the COL3A1 gene. Vascular EDS is an autosomal dominant condition for which genetic testing is required for a definitive diagnosis. Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and one of 13 types of Ehlers-Danlos syndrome (EDS). In the UK that would mean around 740 people. On average, it takes patients more than 10 years and 15 doctor visits to get diagnosed with Ehlers-Danlos Syndrome. Vascular EDS: This is the most severe type, and it affects the heart and other organs. Vascular Ehlers-Danlos syndrome (VEDS) is one of the different subtypes of Ehlers-Danlos syndrome (EDS). Some people have characteristic facial features, thin skin, and tissue fragility Vascular Ehlers-Danlos Syndrome (vEDS) is a rare, genetic connective tissue disorder characterized by its distinct clinical manifestations and serious health implications. People are often diagnosed when they have easy and frequent bruising that is not explained by other causes, spontaneous bowel perforations or arterial tears, or because other family members are afected. Diagnosis How is Vascular Ehlers-Danlos Syndrome Diagnosed? The diagnosis of Vascular Ehlers-Danlos syndrome, or VEDS, is based on careful assessment of the medical and family history and a physical examination that is designed to determine if major features are present. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems. Young adults are commonly diagnosed with Ehlers-Danlos syndrome. In contrast, hypermobility in vascular EDS, but also neuromuscular disorders typically affect predominantly distal/small joints. Some people have characteristic facial features, thin skin, and tissue fragility Vascular EDS (vEDS) is often only identified after a serious event, with a median diagnosis age of 41. The information in this article is based on the experience and expertise of the UK's EDS National Diagnostic Service. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by Accurate diagnosis often relies on genetic testing and a comprehensive clinical evaluation to differentiate between these similar disorders. It is common to be wrongly diagnosed with another condition first in an effort to find answers. The fat under I was diagnosed with hypermobile EDS at age 50. There are 13 types of EDS described in the 2017 diagnostic criteria [2]. Vascular Ehlers-Danlos Syndrome Vascular Ehlers-Danlos syndrome (VEDS) is a condition that is quite variable. The skin is thin, transparent, and prone to damage. Clinical diagnostic criteria established in 2017 [Malfait et al 2017] are useful to guide the approach to genetic testing. Proper Mar 6, 2025 · Learn about diagnosing and treating Ehlers-Danlos syndrome, an 'invisible' disease. Sep 7, 2025 · Ehlers-Danlos syndrome is a group of genetic connective tissue disorders classified in 13 types. This group includes a number of types, and was most recently reviewed by an International Consortium who released the 2017 Guidelines for diagnosis and treatment in March 2017. Apr 15, 2019 · Of all hereditary connective tissue diseases, vascular Ehlers-Danlos Syndrome (vEDS) is pre-eminently the most feared—mainly due to the unpredictability in the occurrence of potentially serious/fatal vascular events such as arterial dissection or rupture. It is estimated to affect between 1/50,000 to 1/200,000 people (Byers et al. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015. Adults and adolescents Hypermobility in JHS/hEDS is generalized, i. Using these guidelines, Hypermobility Type EDS (or hEDS) is generally considered the most common and the mildest type of EDS. What are the visual symptoms of EDS? Visual symptoms in Ehlers-Danlos Syndrome may include visible bruising, especially in vascular EDS, where the skin can be so thin that underlying veins are visible. However, the diagnosis is often delayed until late adulthood due to subtle signs and challenges with diagnostic tools for assessing generalized joint hypermobility (GJH). Diagnosis is confirmed with molecular testing via Abstract Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Children with vascular EDS may also have short stature, recessed gums, and a low amount of fat under their skin. Here's a guide on how EDS is tested and diagnosed. Overview of Life Expectancy with EDS Life expectancy in Ehlers-Danlos Syndrome (EDS) varies significantly depending on the specific subtype. For many people with Ehlers-Danlos syndrome the journey to diagnosis will have been a long and convoluted one. Sep 2, 1999 · Vascular Ehlers-Danlos syndrome (vEDS) should be suspected in individuals with any one of the following major diagnostic criteria or several minor diagnostic criteria, particularly in those younger than age 40 years. Diagnosing EDS can be challenging due to its varied symptoms and overlapping characteristics with other conditions. Kyphoscoliosis EDS: Children with this type typically have severe EDS at birth, delayed motor development, and progressive kyphosis and scoliosis. Sep 7, 2018 · Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. Oct 26, 2025 · At what age is Ehlers-Danlos usually diagnosed? Diagnosis is often delayed until adulthood, except for vascular EDS, which may be identified in childhood due to early symptoms. Apr 25, 2025 · Key Risk Factors Age: EDS can be diagnosed at any age, but symptoms often become more apparent during adolescence or early adulthood. The journey to an Ehlers-Danlos Syndrome (EDS) diagnosis can be long and fraught with challenges, with some cases stretching out over decades. Diagnostic Criteria 2017 EDS International Classification 2017 EDS Internation Classification for Non-Experts 2023 Diagnostic Framework for Pediatric Generalized Joint Hypermobility hEDS Diagnostic Checklist EDS Diagnostic 2017 Prevalence Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. , joint mobility, skin extendibility, scarring tendency) are readily identifiable starting in early childhood. Changes in the COL3A1 gene can cause it. Apr 10, 2022 · Vascular Ehlers-Danlos Syndrome Vascular-type Ehlers-Danlos syndrome is a severe subtype of a genetic connective tissue disorder. Distinctive Traits and Early Diagnosis Individuals with vEDS often exhibit Hypermobile EDS (hEDS): Symptoms often appear in childhood or adolescence. It's estimated to impact 1 in 90,000 people. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. affecting proximal/large and distal/small joints. Vascular EDS (vEDS): This is a more severe subtype of EDS. The Pediatric Working Group of the International Consortium on Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Ehlers-Danlos Syndrome (EDS) Ehlers-Danlos syndrome (EDS) is a genetic condition that weakens your body’s connective tissue. We follow patients with diagnoses of VEDS in our Connective Tissue Disorder Program here at Lurie Children’s. Early recognition and understanding of its traits are crucial for managing the syndrome effectively, as outlined in the Vascular EDS resources. May 16, 2021 · Ehlers-Danlos syndrome (EDS) is most often diagnosed in what age group? Clinical characteristics of the disease (e. Introduction Vascular Ehlers-Danlos syndrome (vEDS) is rare connective tissue disorder caused by pathogenic variants in the COL3A1 gene. Making a diagnosis of classical Ehlers-Danlos syndrome (cEDS) It is often possible to make a diagnosis of classical EDS from a clinical examination together with details of a person’s medical history, however a genetic test is helpful to confirm a diagnosis. I participated in an Arthritis Newsgroup (this was years before social media), and a Norwegian girl reported that she had just been diagnosed with hypermobile Ehlers-Danlos syndrome (hEDS). The other clinical signs take a little longer to show up. Vascular Ehlers-Danlos Syndrome (vEDS, previously Ehlers-Danlos Type IV) is a rare genetic disorder with an estimated prevalence of 1/50,000 to 1/200,000 (1). Gender: EDS is more commonly diagnosed in females than males. Feb 28, 2023 · Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is a connective tissue disorder weakening the vasculature. Each person’s care plan should address their individual needs. Written by genetic counsellors from the UK's only clinical genetics service specialising in the Ehlers-Danlos syndromes. A summary of recommendations for management include: Identify causative variants in COL3A1 prior to application of diagnosis, modulate life style to minimize injury, risk of vessel/organ rupture, identify and create care team, provide individual plans for emergency care ( vascular “ EDS passport) with diagnosis and management plan for use The presence of one or both of the major criteria is necessary for clinical diagnosis; the presence of one or more minor criteria contributes to the diagnosis but in the absence of a major criterion, they are not sufficient to establish a diagnosis. VASCULAR EHLERS-DANLOS SYNDROME Vascular Ehlers-Danlos syndrome (vEDS) is an inherited condition that is quite variable. vEDS is caused by mutations in the COL3A1 gene. ABSTRACT Objective: Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. It is inherited in an autosomal dominant way which means that if a person has vEDS there is a 50% […] Dec 27, 2024 · Article Open access Published: 27 December 2024 Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood Niamh R. Get expert advice from UT Southwestern Medical Center men's and women's health specialists. Getting Diagnosed with Vascular Ehlers-Danlos Syndrome The diagnosis of Vascular Ehlers-Danlos syndrome, or VEDS, is based on careful assessment of the medical and family history and a physical examination that is designed to determine if major features are present. Methods: A systematic review was performed. 2017). Jan 24, 2025 · More than half of children with vascular Ehlers-Danlos syndrome (vEDS) were diagnosed as part of familial genetic testing, per a study. Summary An introduction to living with vascular Ehlers-Danlos syndrome (vEDS) for people newly diagnosed with the condition and their families. While it isn’t curable, this condition is often manageable, and the complications are often treatable. People with this condition have very fragile tissues and are at high risk for severe bleeding and internal injuries. We would like to show you a description here but the site won’t allow us. Learn More. The cause (s) of hEDS and HSD are unknown, so these conditions are diagnosed using clinical diagnostic criteria. There are 13 different types of EDS, but they do have some clinical features in common. The characteristic symptom of this type is very tender skin. Experts might also perform a genetic test using a blood or skin sample to confirm the diagnosis. g. Dec 25, 2018 · Learn in-depth information on Vascular Ehlers-Danlos Syndrome, its causes, symptoms, diagnosis, complications, treatment, prevention, and prognosis. This information is intended for people who have been recently diagnosed with vascular Ehlers-Danlos syndrome (vEDS) and their friends and relatives. Vascular EDS (vEDS) is a rare type of EDS. Introduction Ehlers-Danlos Syndrome (EDS) is a group of inherited con-nective tissue disorders caused by abnormalities in the struc-ture, production, and processing of collagen and some related proteins [1]. It is recommended that people with vEDS have an emergency plan in place and make lifestyle modifications to minimize the risk of injury. e. In addition, it can also be caused by changes in the COL1A1 gene. The age at which Ehlers-Danlos Syndrome (EDS) is diagnosed can vary widely depending on the subtype, the severity of symptoms, and awareness among healthcare providers. Jan 1, 2020 · Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. Learn about the symptoms, diagnosis, and treatment. The mode of inheritance is autosomal dominant. It is this tissue that provides support to many body parts such as the skin, muscles, ligaments and organs Oct 11, 2025 · Vascular Ehlers-Danlos Syndrome Vascular Ehlers-Danlos Syndrome involves type III collagen and type I collagen. Wilkinson, Elena Cervi Discover the varied ages at which Ehlers-Danlos Syndrome is diagnosed, the complexities of the process, and why timely recognition is crucial for care. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in INTRODUCTION Vascular Ehlers-Danlos syndrome (vEDS) is rare connective tissue disorder caused by pathogenic variants in the gene. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Aug 10, 2022 · Ehlers-Danlos syndrome is a group of inherited connective tissue disorders that primarily affects the skin, joints, and blood vessel walls1 but can affect every organ system and result in significant morbidity and mortality. The clinical features to look for include: Fragile skin which can split easily with […] Hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) can affect many different areas of the body and can be debilitating. Obtaining an official diagnosis of Ehlers-Danlos Syndrome (EDS) can be a detailed process, requiring a combination of clinical evaluation, family and medical history assessment, and possibly genetic testing. People are often diagnosed when they have easy and frequent bruising that is not explained by other causes, a spontaneous bowel, or arterial tears, or because other family members are affected. There are 13 types of EDS fi described in the 2017 diagnostic criteria [2]. Apr 9, 2024 · Ehlers-Danlos syndrome - a genetic disorder that causes unusual flexibility and thin skin, is known to weaken the connective tissues, leading to weak joints, blood vessels and organs. Mar 29, 2023 · The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. It is also the What Is Vascular Ehlers-Danlos Syndrome? Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited con-nective tissue disorders. Inclusion criteria were studies in humans with a Oct 19, 2020 · Megan was diagnosed with Vascular Ehlers-Danlos Syndrome (VEDS) in 2018. Vascular Ehlers-Danlos syndrome (VEDS) is a genetic condition that is caused by a change (mutation) in the gene for collagen type 3 (the COL3A1 gene). Ehlers-Danlos syndrome (EDS) is a disorder that affects the body's connective tissues.

What age is vascular eds diagnosed. Changes in the COL3A1 gene can cause it.