VEDS Disease: The genetic disorder known as vascular Ehlers-Danlos syndrome (VEDS) affects the connective tissue in the body. Connective tissue holds all the body’s cells, organs, and tissue together. It also helps in the proper growth and development of the body. Connective tissue is made up of proteins. Involved in VEDS is the collagen III protein.
VEDS is caused by alterations (or mutations) in the gene called COL3A1 that informs the body on how to create collagen III. As a result of these changes, the body may produce abnormally high levels of collagen III or a lower than usual amount of collagen III altogether (depending on the mutation type). This results in the symptoms and health issues that are characteristic of VEDS.
Because collagen III is present throughout the body, VEDS can damage many various regions of the body, including the arteries, hollow organs, skin, and lungs. These systems are prone to tears, which can be life-threatening.
Although VEDS is exceptionally variable, persons are commonly identified when they experience easy and frequent bruising that is not explained by other causes and spontaneous intestinal and artery tears or ruptures. Some people have characteristic facial features, thin skin, and tissue fragility.
What Other Names Do People Use For VEDS Disease?
There are many names for the arterial version of Ehlers-Danlos syndrome; some include vEDS, EDS type IV, Sack-Barabas syndrome, and EDS with vascular involvement. The VEDS Movement has embraced the use of a capital “V” in VEDS to draw attention to the potentially fatal vascular complications associated with this variant of EDS.
How Many People Have VEDS Disease?
The actual number of affected people with VEDS is not known. The best estimates, which combine counts of persons identified by genetic testing with calculations of how well that number represents all people, show that there are probably between 6,000 and 8,000 affected people in the U.S., or roughly 1/40,000 – 50,000 people. VEDS affects persons of all races and ethnic groups.
Life With VEDS Disease
Although VEDS is present at birth, its symptoms do not always manifest straight away. Congenital clubfoot, hip dislocation, limb deformity, and visible veins are all symptoms of VEDS that might be present at birth or in infancy. When a kid is an infant, bruises might not be noticeable, but as the child develops motor skills, they might become more of a problem.
When a child is evaluated because of bruising, a potential VEDS diagnosis is not on the radar of the healthcare professionals completing the assessment, especially if there is no family history of the disorder. Some children (or newborns) have fewer traits while young and subsequently gain features during puberty.
The dangers of life-threatening events can grow with age. This emphasizes the significance of early, precise diagnosis and monitoring for VEDS patients. If this is not done, there is a higher chance of serious, even fatal, problems. Life-threatening consequences can be avoided or mitigated if treatment and lifestyle adjustments are implemented as soon as possible once a diagnosis is obtained.
@ShereneShalhub talking on Diagnosis and Management of Vascular Ehlers-Danlos Syndrome at the @NorthwesternU vascular surgery symposium. Whirlwind tour of vEDS packed with valuable info!! #aortaed @ADCollab @vEDSCollabo @VEDSMovement pic.twitter.com/WAjhhbMlvx
— Karen Woo MD PhD DFSVS FACS (@KarenWooMD) December 9, 2021
Positive family history is a primary factor in the identification of VEDS in children under the age of 18. Without a known carrier in the family, around 50% of children tested for VEDS will have a significant problem by age 11. Children have an extremely low incidence of major complications and early mortality.
Some of the facial characteristics of VEDS become more obvious in late infancy; bruising may develop due to exercise; spontaneous pneumothorax (lung collapse) may occur, and colonic ruptures may occur, typically in the sigmoid colon. About one-fourth of people with a VEDS diagnosis who live to the age of 20 will have experienced a severe consequence such as bowel or artery rupture or spontaneous pneumothorax.
People with VEDS sometimes show signs of aging before their time, most noticeably in their hands and feet, which may develop acrogeria. However, despite these obvious signs, a diagnosis of VEDS is sometimes overlooked since doctors only know of the disorder and its rarity.
