How to diagnose vascular eds. Find out about the symptoms, causes and treatments.

How to diagnose vascular eds If you have symptoms and/or a family history of vascular EDS, a genetic counselor or a medical geneticist can usually order a genetic test for you. Diagnosis determines type Diagnosis of an EDS subtype comes by finding the one that most matches the patient’s symptoms. 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). Genetic testing for vascular Ehlers-Danlos syndrome (vEDS) is available. 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. Some people have characteristic facial features, thin skin, and tissue fragility We would like to show you a description here but the site won’t allow us. Consequently, individuals with EDS often experience symptoms such as joint hypermobility, skin ‍ What kind of specialist diagnoses and treates Ehlers Danlos Syndrome? Which medical specialists are qualified to diagnose and treat Ehlers-Danlos Syndrome (EDS)? For diagnostic accuracy, especially with Classical and Vascular types of EDS, genetic testing is often necessary to identify specific genetic mutations. Some features are seen across all types of EDS, including joint hypermobility, skin hyperextensibility, and tissue fragility. There are clinical criteria, available in the papers here, that help guide diagnosis; your signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit. Indicators often include easy bruising, arterial ruptures, joint hypermobility, and distinctive facial features. Ehlers–Danlos syndrome, EDS, Cutis hyperelastica dermatorrhexis, Dystrophia mesodermalis congenita, India rubber skin, Hereditary collagen dysplasia, Cutis elastica, Cutis hyperelastica, Danios disease, Fibrodysplasia elastica generalisata, Meekeren-Ehlers-Danlos syndrome, Dermatorrhexis with dermatochalasis and arthrochalasis. These include vascular events, described in detail below, and rupture of hollow organs such as bowel and the uterus (in pregnant women). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal Apr 29, 2025 · Genetic testing services like 23andMe provide users with raw genetic data that may offer insights into health conditions like Ehlers-Danlos syndrome (EDS). A vEDS diagnosis is confirmed once a pathogenic variant is found on one allele of COL3A1. Usually, this type of Ehlers-Danlos syndrome is diagnosed either by a geneticist familiar with this type, or in the clinic using what Discover comprehensive insights into Ehlers-Danlos syndrome blood testing, including connective tissue disorder analysis, collagen defect examination, and HEDS screening, as well as related assessments for hypermobility and vascular EDS, providing essential diagnostic information for accurate diagnosis and management. Individuals with vEDS are at high risk for spontaneous rupture of blood vessels, intestines, or other organs, often without prior warning. It is accepted that even for experienced clinicians the diagnosis of vEDS requires molecular confirmation to differentiate from conditions with a similar presentation. 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. Saperstein has diagnosed and treated over 500 patients with EDS. Many people who do not have vascular EDS can have similar features as many are common in the general population. Genetic changes affect connective tissues by altering collagen in the body. This information was provided by the NHS Ehlers-Danlos Syndrome National Diagnostic Service which is a specialist service for people with complex/ rare forms of Ehlers-Danlos syndrome (EDS). hEDS accounts for about 90% of EDS cases and is thought to affect at least 1 in 3,100-5,000 people. An overview of the management of EDS and the principles of genetic counseling and testing are reviewed separately. Each type of EDS has its own set of features with distinct diagnostic criteria. Other forms include the classic and vascular forms. Adults and adolescents Hypermobility in JHS/hEDS is generalized, i. Mar 29, 2023 · The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. affecting proximal/large and distal/small joints. Diagnosis of Vascular Ehlers-Danlos syndrome (VEDS) is based on careful assessment of medical and family history, physical examination, and genetic testing. Question: October is Vascular Ehlers-Danlos Syndrome Learn how DNA testing can diagnose Ehlers-Danlos Syndrome (EDS) in this comprehensive guide. Get expert advice from UT Southwestern Medical Center men's and women's health specialists. These can include joint hypermobility (increased mobility of joints), stretchy skin […] 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. INTRODUCTION Vascular Ehlers-Danlos syndrome (vEDS) is rare connective tissue disorder caused by pathogenic variants in the gene. Understanding this data requires careful interpretation, as many factors influence connective tissue disorders beyond genetics alone How to Test for Ehlers Danlos Syndrome? EDS can present with a variety of signs and symptoms, which can make it challenging to identify. Feb 28, 2023 · Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is a connective tissue disorder weakening the vasculature. These symptoms can vary significantly among individuals, often influenced by age and the condition’s severity. 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. (See "Ehlers-Danlos syndromes: Overview of the management" and "Genetic testing". This is the material that provides strength and structure to: Skin Bone Blood vessels Internal organs The variant collagen leads to the symptoms associated with EDS. Hypermobile EDS (hEDS) is the most common type of EDS by far. e. Making a diagnosis of vascular EDS. Associated tissue fragility affects multiple organ systems, increas … 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. Learn More. Talk to your doctor or a genetic disease specialist about your symptoms: they may be able to diagnose you using genetic testing. Ehlers-Danlos syndrome is a complex condition, and your child will likely need care from a range of specialists. 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 The Ehlers Danlos Syndrome Tests Diagnosis Guide Vascular imaging studies, including ultrasound, MRI, or angiography, are crucial in certain EDS types, especially vascular EDS. It is COL3A1 an autosomal dominant condition for which genetic testing is required for a denitive diagnosis [1]. Resources for caring for patients with Vascular Ehlers-Danlos Syndrome (VEDS), including diagnostic tools and reference sheets. Vascular Ehlers-Danlos syndrome (VEDS) is one of the different subtypes of Ehlers-Danlos syndrome (EDS). Vascular Ehlers-Danlos Syndrome is a rare and severe form of Ehlers-Danlos Syndrome, affecting the connective tissues that provide structure and strength to the body's blood vessels and organs. We would like to show you a description here but the site won’t allow us. 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. EDS is genetic, so if someone in your family has it, you may too. In some forms of the 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. Nov 6, 2024 · Individual problems and symptoms are evaluated and cared for appropriately. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Connective tissues provide support in skin, tendons, ligaments and bones. Mar 21, 2025 · Diagnosing Ehlers-Danlos Syndrome Common symptoms of Ehlers-Danlos Syndrome (EDS) include overly flexible joints and stretchy, fragile skin. Ehlers-Danlos syndrome Type III is the most common. ) Mar 6, 2025 · Learn about diagnosing and treating Ehlers-Danlos syndrome, an 'invisible' disease. View Vascular EDS and hypermobile EDS compared Periodontal EDS Hypermobile EDS and Ehlers-Danlos syndromes (EDS) are a group of rare inherited conditions that affect connective tissue. There is a perceived lack of awareness within the medical fraternity on this condition. Find out about the symptoms, causes and treatments. 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 Nov 6, 2024 · There are at least 13 types of EDS. Apr 25, 2025 · From the Guidelines Diagnosing Ehlers-Danlos Syndrome (EDS), particularly the vascular type (vEDS), requires identification of a causal COL3A1 variant, which is a crucial step due to its severe and life-threatening vascular complications. . The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Understanding the diagnostic process is crucial for accurate identification and management of this connective tissue disorder. It is the hypermobile type. The diagnosis of vEDS involves a combination of clinical evaluation, family history assessment, and genetic testing to identify pathogenic variants in the 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. Read about symptoms, diagnosis, management, genetic factors and more. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by Ehlers-Danlos syndromes (EDS) are a collection of inherited conditions that fit into a larger group known as heritable disorders of connective tissue. We follow patients with diagnoses of VEDS in our Connective Tissue Disorder Program here at Lurie Children’s. October is Vascular Ehlers-Danlos Syndrome (VEDS) Action Month. Methods: A systematic review was performed. 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. In contrast, hypermobility in vascular EDS, but also neuromuscular disorders typically affect predominantly distal/small joints. Learn about Vascular Ehlers-Danlos Syndrome (vEDS) and it's signs and symptoms. At Boston Children’s Hospital, your child’s care team may include clinicians from cardiology, orthopedics, ophthalmology, and otolaryngology (ear, nose, and throat). vEDS may also cause a variety of other symptoms, including extensive bruising and spontaneous pneumothorax. They provide help, support and advice to families affected by vascular EDS. Authoritative facts from DermNet New Zealand. Ehlers Danlos Syndrome Tests: Diagnosis Guide In this comprehensive guide, we will explore the various tests and diagnostic criteria used for Ehlers Danlos Syndrome (EDS). The Ehlers-Danlos syndromes (EDS) represent a group of genetically diverse disorders characterized by the variable combination of joint hypermobility, hyperextensibility of the skin, and connective tissue fragility affecting the skin and other Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders that impact the body’s collagen structure and function. Follow four simple steps and manage your genetic risk today. Classical EDS (cEDS) and vascular EDS (vEDS) are much Mar 29, 2023 · The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Hypermobile EDS is the most common type (90% of cases). A variety of gene variations cause problems with collagen. The complications of vEDS can be life-threatening and include aneurysm, dissection, and rupture of the arteries and rupture of organs. This service does not accept referrals from GPs or private consultants and only accepts referrals from NHS consultants. 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. Each subtype is a separate and different condition. Vascular Ehlers-Danlos syndrome is also referred to as vEDS, Ehlers-Danlos syndrome type IV, Sack-Barabas syndrome, and the arterial form of Ehlers-Danlos syndrome. This paper reviews contemporary evidence to enhance the understanding of this complex condition. Vascular Ehlers-Danlos syndrome is the most severe form of EDS with symptoms that can be life-threatening. Written by genetic counsellors from the UK's only clinical genetics service specialising in the Ehlers-Danlos syndromes. Sep 23, 2024 · The pathogenesis, clinical manifestations, diagnosis, and differential diagnosis of the major forms of EDS will be presented here. While these reports do not diagnose EDS, they may contain genetic markers linked to certain subtypes. 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. Each type is thought to involve a unique defect in connective tissue, although not all of the genes responsible for caus-ing EDS have been found. You can give blood or saliva, although there are other samples that can be used to test your DNA (less commonly). Throughout the article, we will provide information on the diagnostic criteria for EDS, as well as the signs and Each type of EDS has a different prevalence in the population. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal An overview of kyphoscoliotic Ehlers-Danlos syndrome - its symptoms, diagnosis and cause explained. Rare Disease 360, in partnership with The Marfan Foundation, spoke with Hal Dietz, MD, a cardiologist and geneticist at Johns Hopkins University, about the importance of educating primary care physicians and emergency department physicians on the signs and symptoms of VEDS. Vascular Ehlers-Danlos Syndrome (vEDS) exemplifies the challenges of rare disease diagnosis, often resulting in a lengthy diagnostic odyssey. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene. What is EDS? The E hlers- D anlos s yndromes (EDS) are a group of 13 heritable connective tissue disorders. Español - Criterios Diagnósticos para el Síndrome de Ehlers-Danlos Hiperlaxo (SEDh) #TogetherWeDazzle Follow us on social media. hEDS is currently classified as a rare disorder, but the true prevalence is not known and may be underestimated. Some people with vascular EDS are diagnosed on the basis of subtle signs in their physical appearance, together with their medical history. Sep 23, 2024 · Comprehensive guide on clinical manifestations and diagnosis of Ehlers-Danlos syndromes, including symptoms, diagnostic criteria, and management strategies. However, with the right tests and evaluations, healthcare professionals can determine whether EDS is the underlying cause of your symptoms. vEDS is a genetic disorder that causes connective tissue to be fragile, particularly in the blood vessels and organs. There are 13 types of EDS fi described in the 2017 diagnostic criteria [2]. The best way to get a diagnosis of Ehlers-Danlos syndrome is to see a clinical geneticist, but first, a comprehensive clinical evaluation and full medical history is required. 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. An introduction to the features of classical Ehlers-Danlos syndrome (cEDS) and to living with the condition. The complexity of the disease, with its subtle and heterogeneous clinical presentations, especially in cases with de novo mutations, leads to prolonged time to diagnosis (TTD) and increased mortality. How do doctors test for EDS? The term Ehlers–Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. There are different types of EDS, but some have features in common. At least six types of Ehlers-Danlos syn-drome have been identified; clinical manifestations vary according to type. How to get tested for EDS? ‍ To get tested for EDS, start by consulting your primary care physician, who may refer you to a specialist such as a geneticist, rheumatologist, or a specialty clinic for Ehlers-Danlos Syndrome for further evaluation and testing. Vascular Ehlers-Danlos Syndrome Vascular Ehlers-Danlos syndrome (VEDS) is a condition that is quite variable. 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. The conditions are caused by genetic changes that affect connective tissue. An awareness of Ehlers-Danlos syndrome (EDS) is a disorder that affects the body's connective tissues. Physical therapy or an evaluation by a specialist in rehabilitation medicine is often needed. Aug 2, 2024 · Ehlers-Danlos Syndrome is a group of inheritable disorders that affect the quality of connective tissues supporting the skin, bones, blood vessels and organs. Navigate the body map to learn more about the condition. Early identification of vEDS is vital. Dr.