Eds vascular. Explore symptoms, inheritance, genetics of this condition.
Eds vascular Consequently, individuals with EDS often experience symptoms such as joint hypermobility, skin Vascular Type Medical Resource Guide is copyright 2009 Ehlers-Danlos National Foundation. Ehlers-Danlos Syndrome (EDS) Ehlers-Danlos syndrome (EDS) is a genetic condition that weakens your body’s connective tissue. Characterized by articular hypermobility, skin exten-sibility and tissue fragility, individuals with EDS have a defect in their connec-tive tissue. Outside of vascular EDS, most other EDS subtypes generally lack specific facial markers. The purpose of this study was to review the surgical management and clinical outcomes Jul 16, 2025 · A new classification system for EDS was released in 2017 (1). 2) [4]. Key results A pathogenic or likely pathogenic DNA variant associated with vascular Ehlers-Danlos syndrome (vascular EDS) was found in the COL3A1 gene. Associated tissue fragility Ehlers-Danlos syndrome (EDS) is a disorder that affects the body's connective tissues. [1][4] The existing Resources for caring for patients with Vascular Ehlers-Danlos Syndrome (VEDS), including diagnostic tools and reference sheets. [1] These may be noticed at birth or in early childhood. Treatment and management recommendations for those with Vascular Ehlers-Danlos Syndrome, or VEDS, including circumstances to avoid and medications. We follow patients with diagnoses of VEDS in our Connective Tissue Disorder Program here at Lurie Children’s. There has been debate regarding the safety of performing elective procedures in patients with vascular manifestations associated with Ehlers-Danlos syndrome (EDS). [7] Symptoms often include loose joints, joint pain, stretchy, velvety skin, and abnormal scar formation. Apr 10, 2025 · 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. 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. How to Use: Explore the features of cvEDS by selecting different body parts from the menu. While it isn’t curable, this condition is often manageable, and the complications are often treatable. Two other systems existed before this one. vEDS may also cause a variet Aug 25, 2022 · A more severe form of the disorder, called vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines or uterus to rupture. This form is often accompanied by neurovascular complications secondary to vessel dissections and/or aneurysms. Vascular Compression Syndromes (VCS), Postural Orthostatic Tachycardia Syndrome (POTS), and Ehlers-Danlos Syndrome (EDS) represent complex medical conditions that frequently coexist, impacting blood flow, nerve function, and the quality of life for those affected. The symptoms listed here may not affect everyone with cvEDS, and people with cvEDS may have other symptoms that are not listed on this page. Vascular dissection or rupture, gastrointestinal perforation, or organ Vascular Ehlers-Danlos Syndrome Vascular Ehlers-Danlos syndrome (VEDS) is a condition that is quite variable. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by pathogenic variants in the gene. It commonly affects your skin and joints. Vascular complications, though rare in classical EDS, can be life-threatening, and this necessitates one to look for vascular associations in Feb 15, 2018 · Vascular Ehlers-Danlos syndrome (EDS) or type IV Ehlers-Danlos syndrome (EDS 4) is the most malignant form of Ehlers-Danlos syndrome. Patients with this syndrome often have typical Diagnosis of Vascular Ehlers-Danlos syndrome (VEDS) is based on careful assessment of medical and family history, physical examination, and genetic testing. Dr. It is this tissue that provides support to many body parts such as the skin, muscles, ligaments and organs Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive Vascular Ehlers Danlos syndrome (vEDS) is a rare disorder, estimated to affect between 1 in 50,000 and 1 in 200,000 people. Disease Overview Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which What are symptoms of Vascular EDS? Vascular Ehlers-Danlos syndrome is the most severe form of EDS with symptoms that can be life-threatening. People with vascular EDS have a significantly increased risk of developing an aortic aneurysm, dissection and/or rupture, rupture of certain organs, and other health concerns. With vascular Ehlers-Danlos syndrome, this protein is collagen III, and the specific gene is COL3A1. , COL5A1 or COL5A2 mutations Cardiovascular manifestations of vascular EDS and follow-up Dr Michael Frank, MD National Referral Centre for rare vascular diseases, Hôpital Européen Georges Pompidou, AP-HP, Paris, France Chair of the MSA-WG of vascERN The VEDS Movement mission is to save lives and improve the quality of life of individuals with Vascular Ehlers-Danlos Syndrome (VEDS). 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. Vascular Ehlers-Danlos syndrome (VEDS) is one of the different subtypes of Ehlers-Danlos syndrome (EDS). It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Some people have characteristic facial features, thin skin, and tissue fragility Some people with Vascular Ehlers-Danlos syndrome have a noticeable characteristic appearance, while others don't have any outward signs at all. It is caused by a gene mutation affecting a major protein, which causes weakness in vessel walls and hollow organs. Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene. Saperstein has diagnosed and treated over 500 patients with EDS. There is an increased risk of coronary artery dissection, and as a result, myocardial infarction (heart Ehlers-Danlos Syndrome, Vascular Type: EDS vascular type (vEDS) is characterized by arterial and gastro-intestinal rupture, rupture of the gravid uterus and extensive bruising. 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. Nov 25, 2025 · Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders characterized by hyperelastic skin, hypermobile joints, and vascular and other tissue fragility the 2017 classification describes 13 distinct EDS subtypes (Malfait, 2017) inheritance pattern varies by EDS subtype mutations in at least 20 genes have been identified (e. Apr 10, 2022 · Vascular Ehlers-Danlos Syndrome Vascular-type Ehlers-Danlos syndrome is a severe subtype of a genetic connective tissue disorder. It has the highest mortality rate among the six types of EDS. He and his team at the Center provide care for the numerous complications of EDS: joint pain, headaches, POTS, GI problems, and mast cell activation syndrome. Find a doctor knowledgeable about Vascular Ehlers-Danlos Syndrome (VEDS) through The Marfan Foundation's Help & Resource Center, or download a directory. g. There are 13 types, one of which is the vascular type (There is an explanation at the bottom of the page). Patients with vEDS present with Feb 1, 2014 · Vascular Ehlers–Danlos syndrome (vEDS) is an autosomal dominant disease that affects the arteries, bowels, uterus, and skin. They were named Overview of Life Expectancy with EDS Life expectancy in Ehlers-Danlos Syndrome (EDS) varies significantly depending on the specific subtype. Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders associated with skin, ligament, blood vessel and organ abnormalities. These defects affect the soft connective tissues resulting in abnormalities in the skin, joints, hollow organs, and blood vessels. [3] Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. These can include joint hypermobility, stretchy skin and tissue fragility. Learn More. Connective tissue holds all the body’s cells, organs, and tissue together. Transmission is autosomal dominant. What is the pinch test for Ehlers-Danlos syndrome skin? What is Ehlers-Danlos syndrome? It is a syndrome with three symptoms: skin hyperextension (abnormally stretched when pinched), joint hypermobility, and connective tissue fragility (tissue tears or swells quickly). These characteristics create a distinctive facial profile that can assist clinicians in identifying vascular EDS. 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. It relies primarily on descriptive terms for different types of EDS (e. This information is intended for people who have been recently diagnosed with vascular Ehlers-Danlos syndrome (vEDS) and their friends and relatives. It is caused by mutations in the COL3A1 gene encoding type III collagen (2q32. Vascular Ehlers-Danlos Syndrome (vEDS) is a rare and severe subtype of Ehlers-Danlos Syndrome (EDS), a group of inherited disorders afecing connective tissue. What can be mistaken for Ehlers-Danlos? Conditions that can be mistaken for EDS include Marfan syndrome, Loeys-Dietz syndrome, joint hypermobility syndrome, and other connective tissue disorders due to overlapping symptoms. Vascular dissection or rupture, gastrointestinal perforation, or organ Vascular Ehlers-Danlos Syndrome (vEDS) is a rare and severe subtype of Ehlers-Danlos Syndrome (EDS), a group of inherited disorders affecting connective tissue. It is caused by a genetic abnormality mainly related to collagen. Because vascular Ehlers-Danlos syndrome can have serious potential complications in pregnancy, you may want to talk to a genetic counselor before starting a family. There’s no cure, but your healthcare provider will help you find treatments to manage the symptoms and prevent dangerous complications. What Is Vascular Ehlers-Danlos Syndrome? Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited con-nective tissue disorders. About Vascular Ehlers-Danlos syndrome As with other connective tissue disorders, Ehlers-Danlos syndrome involves a mutated gene that affects proteins that make up connective tissue in your child’s body. By pursuing the most innovative research, educating the medical community, general public and affected individuals, and providing support to patients, families, and caregivers, we can charge forward and improve the outcomes for those living with VEDS. vascular EDS, meaning that it affects blood vessels prominently). The vascular type of Ehlers-Danlos syndrome is characterized by the major complications of arterial and bowel rupture, uterine rupture during pregnancy, and the clinical features of easy bruising, thin skin with visible veins, and characteristic facial features (summary by Leistritz et al. 27, 2022, by Marisa Wexler, MS Fact-checked by José Lopes, PhD Ehlers-Danlos syndrome (EDS) is the name given to a group of related genetic diseases characterized by weakness in the connective tissue that makes up joints and holds tissues together. We CARE For What is vEDS? vEDS // VASCULAR EHLERS-DANLOS SYNDROME a genetic disorder that causes connective tissue to be fragile, particularly in the blood vessels and organs. Affected individuals can have spontaneous rupture of hollow organs, such as the bowels or gravid uterus, along with arterial dissections and ruptures that lead to premature death. 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. Read about symptoms, diagnosis, management, genetic factors and more. This new system names 13 different subtypes of EDS. The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by Vascular Ehlers-Danlos (vEDS) impacts arteries and internal organs making them extremely fragile. The information in this article is based on the experience and expertise of the UK's EDS National Diagnostic Service. Some people have characteristic facial features, thin skin, and tissue fragility The E hlers- D anlos s yndromes (EDS) are a group of 13 heritable connective tissue disorders. Please note that cvEDS affects each person differently. The conditions are caused by genetic changes that affect connective tissue. Joint hypermobility is largely limited to the digits, and skin hyperextensibility is minimal or Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. , 2011). Explore symptoms, inheritance, genetics of this condition. VASCULAR EHLERS-DANLOS SYNDROME Vascular Ehlers-Danlos syndrome (vEDS) is an inherited condition that is quite variable. What is Ehlers-Danlos syndrome physical appearance? The physical appearance of Ehlers-Danlos Syndrome varies widely by subtype. These include vascular events, described in detail below, and rupture of hollow organs such as bowel and the uterus (in pregnant women). 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. There are 13 different types of EDS, but they do have some clinical features in common. This page is intended to provide information about symptoms that may occur in individuals with cvEDS and Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Collagen, a vital component of connective tissue, plays a key role in providing strength and elasticity to the skin, joints, blood vessels, and internal organs. Patients with these defects frequently present at a young age with spontaneous arterial complications involving the Significant advancements in genetic testing have contributed to understanding of the cause, management, and treatment of vascular connective tissue disorders, which include Ehlers-Danlos syndrome, Marfan syndrome, and Loeys-Dietz syndrome. We would like to show you a description here but the site won’t allow us. Unlike other EDS subtypes primarily characterized by joint hypermobility and skin elasticity, vEDS is distinguished by its impact on the vascular system, posing a significant risk of life Mar 29, 2023 · The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Associated 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. Abstract Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all . Skin hyperextensibility, joint hypermobility and widened atrophic scars are characteristic of classical EDS. Unlike other EDS subtypes primarily characterized by joint hypermobility and skin elasticity, vEDS is distinguished by its impact on the vascular system, posing a significant risk of life-threatening complications. People with this condition have very fragile tissues and are at high risk for severe bleeding and internal injuries. Sep 13, 2022 · This article discusses Vascular EDS, highlighting its predisposition to blood vessel and bowel rupture and physical characteristics Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders that impact the body’s collagen structure and function. Impact of The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. One vEDS patient has been reported with autosomal recessive mode of inheritance [5]. Vascular EDS (vEDS) is a rare type of EDS. 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. Ehlers-Danlos National Foundation is a 501 (c) (3) non-profit organization dedicated to raising awareness of EDS. The complications of vEDS can be life-threatening and include aneurysm, dissection, and rupture of the arteries and rupture of orga s. Oct 30, 2019 · Vascular EDS Last updated Jan. Sep 2, 1999 · 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. It is inherited in an autosomal dominant way which means that if a person has vEDS there is a 50% […] Vascular-type Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder caused by a mutation in type III procollagen. Vascular EDS Vascular Ehlers Danlos syndrome (vEDS) is a rare disorder, estimated to affect between 1 in 50,000 and 1 in 200,000 people. Proper Vascular Ehlers–Danlos syndrome (vEDS) is a rare autosomal dominant connective tissue disease resulting from pathogenic variants in the collagen type III alpha 1 chain (COL3A1) gene, encoding type III procollagen. It's called the 2017 International Classfication for the Ehlers-Danlos Syndromes. It's estimated to impact 1 in 90,000 people. Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective tissue disorders. It is this tissue that provides support to many body parts such as the skin, muscles, ligaments and organs Vascular Ehlers-Danlos Syndrome, or VEDS, is a genetic condition that affects the body’s connective tissue.