Vascular eds age of diagnosis. Characteristic Physical Features .
Vascular eds age of diagnosis This paper reviews contemporary evidence to enhance the understanding of this complex condition. Others will have had signs of vascular EDS from a young age. Changes in the COL3A1 gene can cause it. [7] Symptoms often include loose joints, joint pain, stretchy, velvety skin, and abnormal scar formation. The characteristic symptom of this type is very tender skin. Sep 7, 2018 · Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. Vascular complications can be observed in several EDS types, but generalized tissue fragility resulting in significant increased risk on vascular events from a young age are a major clinical characteristic of vascular Ehlers – Danlos (vEDS, former Type IV). Learn More. Link to Annabelle’s Challenge Summary Annabelle's Challenge is a registered charity raising awareness of vascular Ehlers-Danlos syndrome to help aid early diagnosis and prevent misdiagnosis of this life-threatening genetic condition. Hypermobility Ehlers-Danlos Feb 28, 2023 · Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is a connective tissue disorder weakening the vasculature. It is important to differentiate these from the person who is borderline symptomatic or overtly part of a more significant clinical picture. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal 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. Patients with the classical and hypermobility forms of Ehlers-Danlos syndrome have a normal life expectancy. There are 13 different types of EDS, but they do have some clinical features in common. The age at which Ehlers-Danlos syndrome (EDS) symptoms appear varies depending on the subtype of EDS and the symptoms they suffer from, as EDS will present differently for each patient. Variability in symptom severity and presentation across individuals. Diagnosis is often delayed due to: Limited awareness of EDS among healthcare professionals. Apr 10, 2025 · Excerpt Clinical characteristics: Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Patients with these defects frequently present at a young age with spontaneous arterial complications involving the 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. Kyphoscoliosis is a form of a form of Ehlers-Danlos Syndrome characterized by a severe and progressive curvature of the spine. Introduction Vascular Ehlers-Danlos syndrome (vEDS, OMIM #130050) is a rare autosomal dominant connective tissue disorder characterised by arterial and intestinal fragility and severe tissue friability, with an estimated prevalence of 1:90,000. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal Epidemiology classification Some degree of joint hypermobility is common in children especially in children under the age of 3. However, some people wait years or decades for a diagnosis, or may never receive one. We follow patients with diagnoses of VEDS in our Connective Tissue Disorder Program here at Lurie Children’s. [1] These may be noticed at birth or in early childhood. Characteristic Physical Features Impact of vascular Ehlers-Danlos syndrome Vascular Ehlers-Danlos syndrome (EDS) is the most life-threatening type. In many cases, the diagnosis is not made at the time of admission. Ehlers-Danlos syndrome (EDS) is most often diagnosed in what age group? Clinical characteristics of the disease (e. The mode of inheritance is autosomal dominant. Vascular Ehlers-Danlos syndrome (VEDS) is one of the different subtypes of Ehlers-Danlos syndrome (EDS). Two years later, she shares her experience coming to terms with a VEDS diagnosis. For many people with Ehlers-Danlos syndrome the journey to diagnosis will have been a long and convoluted one. We present the experience acquired in the Shef eld centre over fi a period of 12 years, collecting data from diagnosis until May 2021. These defects affect the soft connective tissues resulting in abnormalities in the skin, joints, hollow organs, and blood vessels. It is also the Oct 11, 2025 · Vascular Ehlers-Danlos Syndrome Vascular Ehlers-Danlos Syndrome involves type III collagen and type I collagen. These can include joint hypermobility, stretchy skin and tissue fragility. Early recognition and understanding of its traits are crucial for managing the syndrome effectively, as outlined in the Vascular EDS resources. Using these guidelines, Hypermobility Type EDS (or hEDS) is generally considered the most common and the mildest type of EDS. Overview of Life Expectancy with EDS Life expectancy in Ehlers-Danlos Syndrome (EDS) varies significantly depending on the specific subtype. Misdiagnoses of fibromyalgia and ME/chronic fatigue syndrome, and the label of irritable Jan 1, 2020 · Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The skin is thin, transparent, and prone to damage. There are 13 types of EDS described in the 2017 diagnostic criteria [2]. Poor awareness of the condition amongst medical professionals means that it can go undiagnosed. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Distinctive Traits and Early Diagnosis Individuals with vEDS often exhibit 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. Vascular Ehlers-Danlos syndrome is the most severe form of EDS with symptoms that can be life-threatening. The fat under Jul 23, 2025 · Vascular Ehlers-Danlos Syndrome (VEDS) is a rare genetic disorder affecting the body’s connective tissues. Conclusion Management of vascular Ehlers-Danlos syndrome requires a multidisciplinary care team, which should provide: Molecular diagnosis and family screening Emergency care Follow-up as required Arterial monitoring Key aspects of care focus on monitoring and managing arterial and organ fragility. It is this tissue that provides support to many body parts such as the skin, muscles, ligaments and organs Mar 29, 2023 · Lifestyle advice from a young age can help acceptance and understanding of the diagnosis and inform choices. [1][4] The existing 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. 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. Inclusion criteria were studies in humans with a May 16, 2021 · Many of the symptoms of EDS are chronic, meaning they get worse over time. This is a rare, monogenic EDS type, with a suspected prevalence of 1:50 000. [3] Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. Vascular dissection or rupture Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and one of 13 types of Ehlers-Danlos syndrome (EDS). Diagnosis of Joint hypermobility syndrome/Hypermobile Ehlers–Danlos syndrome (JHS/hEDS) . Sep 1, 2024 · Subtype: Some subtypes of Ehlers-Danlos Syndrome (EDS), such as vascular EDS, carry a higher risk of serious complications, including aortic aneurysm and rupture. Read about symptoms, diagnosis, management, genetic factors and more. 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. Dec 25, 2018 · Learn in-depth information on Vascular Ehlers-Danlos Syndrome, its causes, symptoms, diagnosis, complications, treatment, prevention, and prognosis. Individuals with VEDS may also experience chronic pain, fatigue, and muscle ABSTRACT Objective: Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. Ehlers-Danlos syndrome typically progress slowly, and the prognosis depends upon the type of EDS and the severity of the condition. It is an autosomal dominant condition for which genetic testing is required for a definitive diagnosis [1]. 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]. Typical clinical manifestations are skin hyperelasticity, hypermobility of joints, the fragility of blood vessels, and atrophic scarring. Ehlers-Danlos syndrome (EDS) is a disorder that affects the body's connective tissues. In addition, it can also be caused by changes in the COL1A1 gene. Some people will have had a normal childhood and may not experience any significant problems until much later in life. The diagnosis of EDS or one of its subtypes is Historically, 25% of those with genetic testing confirming vascular-type EDS experience a significant medical problem requiring hospitalization by age 20 (∼75% by age 40), and the median life expectancy for those with vascular-type EDS is 48 years (4). About 80% of people with vEDS in whom mutations have been identified have had complications by age 40, but this may over-estimate the frequency because people are often identified when complications occur. About 80% of patients with vascular Ehlers-Danlos syndrome will experience a major health event by age 40 and the life expectancy is shortened, with an . Diagnosis is confirmed with molecular testing via Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. This protein provides strength and elasticity to blood vessels and organs. 4 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). It is recommended that people with vEDS have an emergency plan in place and make lifestyle modifications to minimize the risk of injury. Internationally recognised diagnostic criteria guide clinical diagnosis of vEDS, with major criteria outlined as (i) molecularly confirmed family How Different EDS Subtypes Progress with Age Not all types of Ehlers-Danlos Syndrome age the same way (1). Navigate the body map to learn more about the condition. 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. As a result, those who have not had major complications are not studied. What Is Vascular Ehlers-Danlos Syndrome? Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited con-nective tissue disorders. There is a perceived lack of awareness within the medical fraternity on this condition. Proper Vascular Ehlers-Danlos Syndrome (vEDS) is a rare, genetic connective tissue disorder characterized by its distinct clinical manifestations and serious health implications. Although you may have been diagnosed recently, you will have had vascular EDS since the moment you were conceived. What are the symptoms found in those affected by Vascular Ehlers-Danlos syndrome, or VEDS? The following are symptoms found in people with Vascular Ehlers-Danlos Syndrome (VEDS): Cardiovascular and arterial characteristics There is no increased risk of valvular or structural cardiac defects. Learn about the symptoms, diagnosis, and treatment. Overlapping symptoms with other conditions. The data was analysed with the aim of adding to international datasets on vEDS. 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. 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. Each person’s care plan should address their individual needs. 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 Main differential diagnosis are other forms of Ehlers-Danlos syndromes, notably classical EDS (including COL1A1 variants leading to substitutions of arginine to cysteine residues in the triple helical domain), kyphoscoliotic EDS and periodontal EDS. There is an increased risk of coronary artery dissection, and as a result, myocardial infarction (heart Oct 14, 2021 · People who suffer from Ehlers-Danlos syndrome (EDS) may experience bladder issues such as stress incontinence or infection in the bladder. While hypermobile EDS (hEDS) is the most common and widely discussed, other subtypes, such as vascular EDS (vEDS) and classical EDS (cEDS), present their own unique challenges as the years go by. Sep 7, 2025 · Ehlers-Danlos syndrome is a group of genetic connective tissue disorders classified in 13 types. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015. Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective tissue disorders. It worsens over time and limits lung expansion, making breathing difficult. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. 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. VASCULAR EHLERS-DANLOS SYNDROME (VEDS)? Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. The way EDS progresses depends on the specific genetic mutation, the degree of joint 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 Introduction Vascular Ehlers-Danlos syndrome (vEDS) is rare connective tissue disorder caused by pathogenic variants in the COL3A1 gene. Vascular EDS (vEDS) is a rare type of EDS. These include vascular events, described in detail below, and rupture of hollow organs such as bowel and the uterus (in pregnant women). 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. It stems from a mutation in the COL3A1 gene, which produces type III collagen. Due to this genetic alteration, individuals with VEDS have fragile tissues prone to tearing. It's estimated to impact 1 in 90,000 people. . 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. Methods: A systematic review was performed. The Ehlers-Danlos syndromes (EDS) are currently classified in a recognized system of thirteen subtypes. Wilkinson, Elena Cervi Oct 19, 2020 · Megan was diagnosed with Vascular Ehlers-Danlos Syndrome (VEDS) in 2018. Most of the patients sent for vascular surgery are urgent cases, such as aortic dissection, aortic aneurysm rupture, and vascular tear. Feb 23, 2016 · Vascular Ehlers-Danlos syndrome (EDS) is a relatively rare genetic syndrome that occurs owing to disorders in the metabolism of fibrillary collagen. It is common to be wrongly diagnosed with another condition first in an effort to find answers. We highlight a paucity of li … 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. Characterized by articular hypermobility, skin exten-sibility and tissue fragility, individuals with EDS have a defect in their connec-tive tissue. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. Ehlers-Danlos Syndrome (EDS) refers to a group of disorders that affect the body’s connective tissue, including skin, tendons, ligaments and blood vessel walls. View Vascular EDS and hypermobile EDS compared Periodontal EDS Hypermobile EDS and Ehlers-Danlos (EDS) is a name given to a group of connective tissue disorders. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). There is currently limited evidence for the use of drug therapy to reduce vascular events. They provide help, support and advice to families affected by vascular EDS. Learn about Vascular Ehlers-Danlos Syndrome (vEDS) and it's signs and symptoms. It is inherited in an autosomal dominant way which means that if a person has vEDS there is a 50% […] Accurate diagnosis often relies on genetic testing and a comprehensive clinical evaluation to differentiate between these similar disorders. Vascular Ehlers-Danlos (vEDS) impacts arteries and internal organs making them extremely fragile. Some people have characteristic facial features, thin skin, and tissue fragility What are the signs of Vascular Ehlers-Danlos syndrome, or VEDS? Some people have signs of Vascular Ehlers-Danlos syndrome, or VEDS, with a noticeable characteristic appearance, while others do not have any outward signs of the condition. g Vascular Ehlers-Danlos Syndrome Vascular Ehlers-Danlos syndrome (VEDS) is a condition that is quite variable. It is usually "benign" in that there are no apparent detrimental effects. VEDS should be suspected in individuals with any one of the major features below or several minor features, particularly in those younger than age 40 years. What are the common symptoms of Vascular Ehlers-Danlos Syndrome? The common symptoms of Vascular Ehlers-Danlos Syndrome (VEDS) include thin, translucent skin that is prone to bruising and tearing, easily visible veins, arterial and organ ruptures, joint dislocations, abdominal and chest pain, and a collapsed lung.