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. About EDS. 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. Hypermobile EDS. Vascular Ehlers-Danlos syndrome. This is due to the fact that Ehlers-Danlos Syndrome is a connective-tissue disorder, and connective tissue is present throughout the entire body. Vascular Ehlers-Danlos syndrome is a member of the Ehlers-Danlos syndrome (EDS) group of diseases. These may be noticed at birth or in early childhood. These are the main signs of the most common, classic form of Ehlers-Danlos syndrome, as well as some common symptoms of the vascular type. Vascular EDS is almost always inherited in an autosomal dominant manner, but rare examples of biallelic inheritance have been reported. Vascular EDS is a genetic condition caused by an alteration, also known as a mutation, in a gene called COL3A1. There are 6 major types of EDS, and many minor types (which are more rare). It is viewed as the most extreme type of Ehlers-Danlos disorder (EDS). Aneurysms are common and can precede dissection and rupture, While symptoms of kEDS include spine curvature, weak muscle tone from childhood and fragile eyes. Im 42yo f, vascular EDS and a bunch of other things, have been feeling like crap (moreso than usual) with fatigue and shortness of breath, etc for awhile, got COVID in February (despite vax x4) and never seemed to fully recover. This gene controls the production and assembly of type III collagen. There are 6 major types of EDS, and many minor types (which are more rare). All these types of EDS share many common symptoms, like very flexible joints. Vascular Ehlers-Danlos syndrome is a more severe type of condition that can cause the walls of your blood vessels, intestines, or uterus to burst. The connective tissue in the joints is essential in maintaining their range of … It is caused by a gene mutation affecting a major protein, which causes weakness in vessel walls and hollow organs. EDS can affect people in different ways. 3. Vascular EDS (vEDS) is the most serious form of EDS. EDS HM and other subtypes should be considered in patients with chronic functional GI symptoms and abdominal vascular lesions. Vascular Ehlers-Danlos syndrome is a member of the Ehlers-Danlos syndrome (EDS) group of diseases. EDS can affect people in different ways. 1. There are 13 … Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. Ehlers–Danlos syndromes (EDS) are a group of thirteen genetic connective-tissue disorders that are in the current classification, with a fourteenth type discovered in 2018. Symptoms may include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations ... People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. People suffering from vascular EDS, for example, have tissue fragility that puts them at high risk of rupturing arteries, muscles, and internal organs, among other things. About 50% of affected individuals have inherited the COL3A1 pathogenic variant from an affected parent, and about 50% of affected individuals have a de no … Ehlers-Danlos syndromes Ehlers-Danlos syndromes (EDS) are a group of rare inherited conditions that affect connective tissue. Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones. Pp. Signs and symptoms, and their severity, vary widely even for those in the same family. Prolapse. Ehlers–Danlos syndromes (EDS) are a group of thirteen genetic connective-tissue disorders that are in the current classification, with a fourteenth type discovered in 2018. Risk of hollow organ rupture, most commonly the large bowel. The gene associated with vascular EDS is called COL3A1 and an alteration in this gene is found in over 99% of people who have a clinical diagnosis of vascular EDS. Vascular EDS. B. Reed (eds) bly a challenge to the average mem- 218 × 276 mm. They also have thin, translucent skin that bruises very easily. I have yet to find one particular condition that connects all my symptoms, but maybe one day I … The long-term outlook (prognosis) for people with Ehlers-Danlos syndromes (EDS) varies by subtype. The vascular type is typically the most severe form of EDS and is often associated with a shortened lifespan. People affected by vascular EDS have a median life expectancy of 48 years and many will have a major event by age 40. Vascular Type: The Vascular Type of EDS is characterized by possible arterial or organ rupture as a result of spontaneous rupture of vessels or organs due to the result of even minor trauma. People with these types of Ehlers-Danlos syndrome also have a higher risk of organ rupture. For example, people with vascular EDS have tissue fragility that puts them at high risk for rupturing of arteries, muscles and internal organs. There is no increased risk of valvular or structural cardiac defects. So far we have no evidence of a particular structural abnormality in the veins in hEDS or HSD, but many people do describe varicose veins, thread/spider veins, easy bruising, difficulty with blood draws, etc. Ehlers-Danlos Syndrome (EDS) is a hereditary connective tissue disorder. I suffer from chronic … Children with vascular EDS may also have short stature, recessed gums, and a low amount of fat under their skin. Pulmonologist visit + imaging = new diagnosis of low grade COPD on top of moderate-severe asthma. Ehlers-Danlos Syndrome (EDS) is a complex condition that affects many parts of the body. The vascular type is considered the most severe among different forms of Ehlers-Danlos Syndrome (EDS). Vascular Ehlers-Danlos syndrome. The gene associated with vascular EDS is called COL3A1 and an alteration in this gene is found in over 99% of people who have a clinical diagnosis of vascular EDS. When this happens, it can lead to dangerous internal bleeding and stroke. There are other medical conditions with some of the same symptoms and therefore it is very important that a suspected diagnosis of vascular EDS is confirmed by a genetic test. The arthrochalasia EDS, classical EDS, hypermobile EDS, periodontal EDS, some cases of myopathic EDS, and vascular forms of EDS usually have an autosomal dominant pattern of inheritance. Vascular EDS. The treatment and management of vascular Ehlers-Danlos syndrome (EDS) aims to relieve signs and symptoms and prevent serious complications. ... lead to discrete symptoms, but can lead to vascular insufficiency if dissections block blood flow to the bowel, liver, spleen, or brain. Classical EDS: Symptoms may include elastic, stretchy skin that bruises easily, hypermobile joints, muscle weakness, and delayed development. Those with vEDS can suffer from weakened or ruptured arteries and blood vessels including the aorta (the heart’s largest artery) and arteries that move blood through the kidneys and spleen. 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