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from the VEDS Movement: “A family history of the disorder, arterial rupture or dissection in individuals under 40 years of age, unexplained colon rupture, or spontaneous pneumothorax in the presence of other features consistent with VEDS should all lead to diagnostic studies to determine if the individual has VEDS. This type causes fragile arteries that can rupture easily, leading to dangerous bleeding. The median survival for one study of SBS patients was only 48 years. It can lead to life-threatening complications and early detection is key for preventing and managing vEDS. Please use other methods of research for that and talk to your doctor Vascular Ehlers Danlos syndrome (vEDS) is a rare disorder, estimated to affect between 1 in 50,000 and 1 in 200,000 people. Sack–Barabas syndrome is rare and has an estimated prevalence of 1 in 100,000 to 200,000. But what about the non-musculoskeletal aspects of EDS, like the heart, gut, and nervous system? Find information specific to vascular Ehlers-Danlos Syndrome and connect to fellow patients in the vEDS community. Symptoms I’ve told his doctor about for years, but have always been shrugged off. Normally with vEDS there is a distinct family history of people dying of aneurisms or stroke at early ages (40s-50s). People with this condition have thinner, translucent and delicate skin (making veins very visible). Learn about Vascular Ehlers-Danlos Syndrome (vEDS), a rare genetic disorder affecting blood vessels. Mar 26, 2024 · For individuals with a history of early-age arterial rupture or dissection, intestinal rupture, or idiopathic pneumothorax, suspicion of vEDS should arise if they exhibit minor physical traits such as a thin, see-through skin with prominent veins and increased flexibility in small joints. Jun 25, 2019 · Vascular Ehlers-Danlos Syndrome (vEDS) Because vascular Ehlers-Danlos syndrome (vEDS) impacts your blood vessels and is associated with ruptured arteries or organ failures, it’s especially important to diagnose as soon as possible. They also bruise easily and have distinct facial features like a thin nose and lips. In The EAU Sexual and Reproductive Health Guidelines aim to provide a overview of the aspects relating to sexual and reproductive health in adult males. My skin texture started changing and I my veins became more visible, my gums at my teeth started receding, my nail beds have turned a deep reddish color which scares me, when I stand up my legs and feet turn purple, and when I looked these things up I found my self on a sight which was giving vEDS symptoms. Discover its signs, causes, diagnosis, management, and how to thrive with vEDS. Jul 23, 2025 · The journey to a VEDS diagnosis typically begins with a clinical assessment based on observed signs and a patient’s medical history. By age 20, about a quarter of those with a known vEDS diagnosis have had a significant complication, such as bowel rupture, arterial rupture, or spontaneous pneumothorax. vascular ehlers danlos. In Vascular Ehlers-Danlos Syndrome (vEDS) is a rare and severe subtype of Ehlers-Danlos Syndrome (EDS), a group of inherited disorders affecting connective tissue. I have a lot of EDS type stuff and hypermobile so I love the information I get here. Ehlers-Danlos syndrome (EDS) is a rare, genetically variable, heterogenous group of (currently recognized) thirteen connective tissue disorders characterized by skin hyperextensibility, tissue fragility, and generalized joint hypermobility. Fragile blood vessels can lead to internal bleeding, which is a serious manifestation of vEDS. At this time, the doctor can also examine the thickness and texture of the skin. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by Vascular Ehlers Danlos syndrome (vEDS) is a rare disorder, estimated to affect between 1 in 50,000 and 1 in 200,000 people. The cutaneous (skin) hallmarks of the Ehlers-Danlos syndromes (EDS) are variable depending on the subtype. The following tests may then be recommended to confirm the diagnosis: Urine tests and/or a skin biopsy to detect deficiencies in certain enzymes that are important for collagen formation Genetic testing The signs and symptoms of dEDS vary quite wildly but will always include fragile, easily broken, bruised and scarred skin. It is caused by a gene mutation affecting a major protein, which causes weakness in vessel walls and hollow organs. Jan 4, 2025 · A look at ehlers danlos and autism to see how the two conditions interact and discuss whether there is a connection between the disorders. Feb 27, 2023 · They believe me now. Learn about Vascular Ehlers-Danlos Syndrome (vEDS) and it's signs and symptoms. vEDS is particularly serious because of the risk for sp Jan 27, 2022 · Vascular EDS (vEDS) is characterized by thin, translucent skin that is easily bruised, as well as fragile arteries, muscles, and internal organs. Oct 27, 2024 · Vascular Ehlers-Danlos syndrome (vEDS) is one of the subtypes of the Ehlers-Danlos syndromes, a group of heritable connective tissue disorders (CTD). This is largely because the condition impacts the quality and amount of connective tissue, composed of a protein called collagen, everywhere in your body. Symptoms of Ehlers-Danlos Syndrome (Vascular Type) Symptoms are the subjective experiences and major complications reported by the patient. Clinicians look for a combination of the characteristic physical features, such as thin, translucent skin and the distinctive facial appearance, alongside a history of vascular or organ complications. These traits, together with other symptoms such as arterial ruptures, highlight the urgency for early diagnosis. Some of those with vEDS may develop a prematurely aged appearance, especially on the limbs with “acrogeria” or old appearing hands and feet. I have a look but also the bruising and translucent skin, hernia and now vascular issues. Other symptoms include a short stature, excessive baggy skin, especially in the face, short fingers and stature and a number of identifiable facial features. 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. Vascular EDS (VEDS) and Cardiac-valvular EDS (cvEDS) - presents with arterial/intestinal/uterine fragility with possibility of arterial or organ rupture; often presents with thin or translucent skin with veins being visible thru the skin and in cvEDS severe progressive cardiac-valvular problems. Feb 26, 2019 · Patients with a rare but very serious subtype, vEDS display a range of symptoms such as thin skin with visible blood vessels, especially in chest and lower extremities. 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. If you don't have that I would be less worried about vEDS. The other symptoms are harder to clearly define because people with both types can have translucent skin etc. Different parts of the body are affected by this VEDS. Early death of family members from valve issues and aortic dissection are the most obvious ones. Picture B: A young female with mildly proptotic eyes, and a long thin nose In rare cases, genetic testing does not confirm the diagnosis and a skin biopsy to look at a piece of skin under the electron microscope can help clarify whether vascular EDS is the correct diagnosis. People with vEDS have thin, translucent skin that shows underlying veins. 11 mos Jill Beach Angharad Ffion mine started out when I was just a child . 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. We recorded sensory symptoms and signs and evaluated presence and Getting Diagnosed with Kyphoscoliotic Ehlers-Danlos Syndrome A diagnosis of kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is typically based on the presence of characteristic signs and symptoms. #mothertomother #vEDS #ehlersdanlos #fightfordiagnosis #believemenow”. While some individuals see symptoms stabilise or even improve with time, others face a steady accumulation of joint damage, pain, and systemic complications. Navigate the body map to learn more about the condition. Life with VEDS is hard. Bruising: Very prominent bruising is often noted and is the most common presentation in childhood (1). No remarkable findings in terms of vEDS facial features (A), no permeability of subcutaneous blood vessels (B), and no skin hyperextension (C) were observed. This is a community for people who have Vascular Ehlers Danlos Syndrome (or Ehlers Danlos Syndrome Type IV), are suspected of having vEDS, and their caretakers, friends and/or family. BCS is caused by having two pathogenic variants in these genes: ZNF469 PRDM5 The cutaneous (skin) hallmarks of the Ehlers-Danlos syndromes (EDS) are variable depending on the subtype. Anjali Chelliah, Heidi Green, and Katie Wright, Directo Soft, velvety skin, translucent skin Genetic Testing If a person meets the diagnostic criteria for BCS, genetic testing should be done to confirm the diagnosis. Spontaneous rupture of arteries Jul 16, 2025 · A clinical overview of the connective tissue disorder, Ehlers-Danlos syndrome (vascular, Type 4; EDS4); with illustrations, references, and symptoms. This is a remake of an older video :) Easy bruising and thin, translucent skin are common symptoms of vascular Ehlers-Danlos syndrome (vEDS). Someone asked me to do a video with my VEDS symptoms and diagnosis story. I hope that sharing my understanding of these problems helps you in getting the care you need when you face complications relating to VEDS, as well as giving health professionals a deeper understanding of the potential complications associated with this rare condition. Consequently, individuals with EDS often experience symptoms such as joint hypermobility, skin Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Spontaneous rupture of arteries Aug 14, 2020 · It’s been a great adventure! What Katie is hoping to accomplish in 2020… My goals this year are to start moving the needle in medical education on VEDS and fundraise for research toward a preventive treatment for the life-threatening emergencies that people with VEDS face daily. Widened scars can commonly be seen in vEDS after surgery or injury to the skin. This is best done through being in the care of the NHS National EDS service; a specialised service for adults and children who have or are suspected to have a rare type of EDS. Pediatric Grand Rounds, Morristown Hospital, NJ, April 21, 2022, virtual, with Dr. To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). What are the symptoms of EDS in the face? The facial symptoms of Ehlers-Danlos Syndrome vary by subtype. Skin manifestations are another symptom of the disease: Skin: Patients may note thin, translucent appearing skin as if you can almost see through it. Vascular EDS (vEDS) Vascular EDS (vEDS) is the most severe type because it affects blood vessels and organs. Question: October is Vascular Ehlers-Danlos Syndrome In VEDS, there is a defect in the production of collagen, leading to weak and fragile blood vessels and other tissues throughout the body. Certain areas of skin will also age faster than others, especially skin on your hands and feet. Soft skin The skin has a soft, velvety texture, but this is a subjective feature. Skin Manifestations of vEDS Picture A: Thin, translucent skin with visible veins on the lower back of a vEDS patient Picture B: A widened post-operative scar following an abdominal surgery (for abdominal aortic aneurysm). Skin extensibility, or skin stretchiness, is measured by pinching and gently pulling the skin to measure the distance it can stretch. It can affect your skin, joints, muscles, blood vessels, organs and bones. Jan 27, 2022 · Vascular EDS (vEDS) is characterized by thin, translucent skin that is easily bruised, as well as fragile arteries, muscles, and internal organs. Vascular Ehlers-Danlos syndrome (vEDS) is an uncommon genetic disorder that is considered to be the most severe form of Ehlers-Danlos Syndrome (EDS). October is Vascular Ehlers-Danlos Syndrome (VEDS) Action Month. Symptoms and Characteristics VEDS presents with a range of symptoms and characteristics, which may include: Thin, translucent skin that is prone to bruising and tearing Oct 6, 2025 · Acrogeria: Prematurely aged appearance of the skin on the hands and feet. But what about the non-musculoskeletal aspects of EDS, like the heart, gut, and nervous system? Oct 27, 2024 · Vascular Ehlers-Danlos syndrome (vEDS) is one of the subtypes of the Ehlers-Danlos syndromes, a group of heritable connective tissue disorders (CTD). vEDS leads to connective tissue fragility that can impact the blood vessels and organs. Jan 5, 2026 · Ehlers-Danlos syndrome (EDS) is a connective tissue disorder that causes joint hypermobility, skin hyperextensibility, and tissue fragility. cvEDS is managed through addressing the symptoms a person is experiencing. Apr 1, 2016 · I was tested for VEDS years ago and it was negative. Ehlers-Danlos syndrome (EDS) is a genetic condition that weakens your connective tissue. Individuals with VEDS are born with it, yet elements of the condition are not generally appeared immediately. Oct 8, 2024 · Ehlers Danlos syndrome (EDS) is a rare condition affecting connective tissue that supports skin, joints, blood vessels, and internal organs. [citation needed] The initial clinical manifestation of vascular problems in patients with SBS is early, about 25% have their first symptoms at age 20 and more than 80% of patients have had at least one complication by the age of 40. Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders that impact the body’s collagen structure and function. I figured it has been a good while since I have done this, so here it is! Mar 29, 2023 · The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Consequently, individuals with EDS often experience symptoms such as joint hypermobility, skin Sep 27, 2022 · Given this pronounced skin fragility, vEDS patients may be more prone to developing spontaneous periorbital ecchymoses. Jul 25, 2016 · The clinical assessment and history should be revisited in order not to miss subtle symptoms such as bruising and thin skin with a visible venous pattern, which may suggest a diagnosis of vEDS. my shoulders would become dislocated everytime my mom tried to even take my mittens off or if she tried to pick me up with her hands under my armpits * she was constantly tsking me to Learn about Vascular Ehlers-Danlos Syndrome (vEDS) and it's signs and symptoms. We would like to show you a description here but the site won’t allow us. Dec 16, 2016 · The symptoms for each subtype of EDS vary and can impact everything from your skin to your bones, organs and the connective tissues around your joints. Patients will often have prominent, visible veins, especially on the chest, due to this (1,2). The signs and symptoms of dEDS vary quite wildly but will always include fragile, easily broken, bruised and scarred skin. | But are actually signs of Vascular Ehlers Danlos Syndrome | Unexplained and easy bruising | 电音女神 (Remix) - 颜凌&在忠&小鹏鹏. 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. Share your stories, struggles, successes, and any vEDS related information here! This is not the place to ask whether or not you have vEDS. Jul 11, 2018 · Read about a study suggesting that the recognition of carotid-cavernous fistula may help diagnose patients with vEDS earlier. Apr 10, 2022 · Symptoms and Causes What are the symptoms? The most common symptoms of vascular Ehlers-Danlos syndrome include: Skin differences. Jun 22, 2023 · Explore the research on Ehlers-Danlos syndrome and the genetic mutations that cause some of the subtypes of the disorder. Individuals with vEDS may experience joint hypermobility and dislocations due to weak connective tissues. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by 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. Sudden, Severe Pain: This can indicate an arterial dissection (tear) or rupture. What Are the Signs and Symptoms of VEDS? The type of signs and symptoms seen in VEDS, as well as the severity, varies widely. Understanding EDS and Its Types EDS encompasses 13 different Find out more about Hypermobile Ehlers-Danlos Syndrome using our easy to navigate body map. Sep 19, 2020 · This video is about my Vascular Ehlers-Danlos Syndrome (VEDS) characteristics and my diagnosis story. The skin changes in hypermobile EDS (hEDS) tend to be less pronounced than in classical EDS (cEDS) although they can overlap with the milder forms of cEDS. Distinctive Traits and Early Diagnosis Individuals with vEDS often exhibit unique facial features including a thin, delicate appearance, prominent eyes, and skin that bruises easily. Medications for Managing EDS, POTS, and Related Symptoms Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders that affect skin, joints, and blood vessels. vEDS can cause a variety of symptoms in many different areas of the body, so people with vEDS may require multiple providers in different specialties to manage their care. It’s the cardiovascular symptoms that are found in vEDS (except mitral valve issues, which tend to be more minor and are found in hEDS). When you receive a new diagnosis, this can be a time of great stress, anxiety and confusion. Shaine Morris, Dr. Find out how hEDS is diagnosed and can be managed. The main cause of this disease is the mutation in the COL3A1 gene, which disturbs the proper production of type III collagen. They did a large connective tissue panel on me and I have Loeys-dietz. Characteristic facial features in vEDS include micrognathia, prominent eyes, narrow nose, thin lip vermilion. Here's a guide on how EDS is tested and diagnosed. You will need to see a genetic specialist in order to determine vEDS. While there is no cure for EDS, medications play a critical role in managing symptoms and complications like pain, gastrointestinal issues, and cardiovascular dysfunctions. How Vascular EDS is Inherited? Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. Considerable interest has arisen concerning the relationship between hereditary connective tissue disorders such as the Ehlers-Danlos syndromes (EDS)/hypermobility spectrum disorders (HSD) and autism, both in terms of their comorbidity as well as Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited, genetic connective tissue disorder. This protein is crucial because it can be found all over the human body. May 25, 2019 · #vEDS caused yours? I think I may have this type as I am having odd circulation issues, match the characteristics in that poster etc. This type of EDS is generally considered the most severe because it carries a high risk of serious bleeding. . This is a remake of an older video :) Picture A: a man with characteristic vEDS facial features including proptotic eyes (eyeballs are pushed forward more than normal), long and thin nose, minimal subcutaneous facial fat and a triangular shaped face. Diagnosing EDS can be challenging due to its varied symptoms and overlapping characteristics with other conditions. Sometimes a person inherits VEDS from a parent who has the condition, and other times the genetic variant that causes VEDS occurs for the first time (de novo) in the person with the condition. Vascular EDS is usually caused by a change (mutation) in the COL3A1 gene. Feb 28, 2023 · Our understanding of vEDS is improving, but it is important that all vascular surgeons are aware of the condition, that it has a low threshold for investigation of minor symptoms and that they have access to the required facilities to treat such patients. Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. For example, vascular EDS (vEDS) often presents with specific facial features, including large, prominent eyes, a small chin, thin lips, sunken cheeks, and translucent skin that reveals underlying veins. Learn about the symptoms across the body of Vascular Ehlers-Danlos syndrome. Figure 1 shows vEDS diagnostic criteria (1). A recent study showed that autonomic symptoms and gastrointestinal symptoms are the two areas most likely to have an impact on the quality of life for EDS sufferers (hypermobile, classical and vascular types). Vascular EDS is a life-threatening disorder associated with fragility of blood vessel and hollow organs. Symptoms of emergencies associated with Vascular Ehlers-Danlos Syndrome, such as arterial dissection, rupture, bowel perforation and lung collapse. Not saying it can't be vEDS, but normally there are more familial signs with vEDS according to my geneticist. Written by a GP. Certain individuals have indications of VEDS at the time of birth or as young kids including, conditions like inborn clubfoot, hip dislocation, limb deformity, and visible veins. May 13, 2024 · The diagnosis of VEDS typically begins with a review of the patient's medical history and a physical examination, focusing on symptoms like unusual bruising or thin, translucent skin. Distinctive facial Vascular Ehlers-Danlos syndrome (vEDS) is an uncommon genetic disorder that is considered to be the most severe form of Ehlers-Danlos Syndrome (EDS). This information is intended for people who have been recently diagnosed with vascular Ehlers-Danlos syndrome (vEDS) and their friends and relatives. Mar 29, 2023 · The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Genetic testing is used to see if a person has the genetic variants that cause BCS. Discover your risk. 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. These symptoms are often due to a sudden change in posture, but sometimes occur after eating as well.

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