What is Vascular Ehlers Danlos Syndrome (VEDS)?
VEDS is a rare, single-gene, autosomal dominant disease caused by mutations in the body’s COL3A1 gene, and is the most severe and life-threatening form of Ehlers Danlos Syndrome (EDS). Estimates vary, but the most recent state the disease affects approximately 1 in 50,000 people. The result is an impairment of the body’s normal formation of collagen, the glue that holds everything together, causing weakening of the skin, organs, arteries, and blood vessels. Individuals with VEDS present with symptoms like easy bruising, thin skin, distinguishable facial features, and hypermobile joints that may be prone to dislocation. The disease can largely be episodic, revealing itself in spontaneous arterial dissections or organ ruptures, making it especially dangerous. Those who present with symptoms of pain in a hospital setting need to be treated immediately as trauma patients, and intervention must be carefully decided on, as invasive procedures have the potential to lead to further trauma and events. The average life expectancy for those who suffer with VEDS is 48 years, though many experience life-threatening episodes long before this age. There is currently no treatment and no cure. Patients are advised to avoid certain activities, such as contact sports, elective surgeries, and pregnancies, that put a great deal of stress on the body. Additionally, many are prescribed beta-blockers or angiotensin-receptor blockers to lower their blood pressure in an effort to take some of the stress off of their blood vessels and arteries. Medical and surgical intervention are continuing to improve with increased awareness, but a great deal of research is still needed to fully understand the disease and its natural progression, as well as to learn more about potential treatment options and therapies.
Click here to find links to further information and other VEDS organizations.
Click here to find links to further information and other VEDS organizations.