What age is vascular EDS diagnosed?
Vascular Ehlers-Danlos syndrome (vEDS) should be suspected in individuals with any one of the following major diagnostic criteria or several minor diagnostic criteria, particularly in those younger than age 40 years.
How long do people with vascular EDS live?
It is often associated with a shortened lifespan. Among affected people diagnosed as the result of a complication, 25% have experienced a significant medical complication by age 20 and more than 80% by age 40. The median life expectancy for people affected by vascular EDS is 48 years.”
Would I know if I had vascular EDS?
The signs and symptoms of vascular Ehlers-Danlos syndrome vary but may include: Fragile tissues (including arteries, muscles and internal organs ) that are prone to rupture. Thin, translucent skin. Characteristic facial appearance (thin lips, small chin, thin nose, large eyes)
How does vascular Ehlers Danlos syndrome ( V eds ) work?
Vascular Ehlers-Danlos Syndrome ( v EDS) is a dominantly inherited, life-threatening connective tissue disorder which results from mutations in the COL3A1 gene. This gene controls the production and assembly of type III collagen.
Who was the first person to discover Ehlers Danlos syndrome?
A German physician named Georg Sack first recognized it in 1936 and named it Status Dysvascularis. Since then, other names have been used to describe it: Familial Acrogeria, Sack-Barabas Syndrome, Ehlers-Danlos Syndrome, type IV and/or vascular type.
Which is the most severe form of Ehlers Danlos syndrome?
Try our interactive tool for help finding information, services, experts, financial aid, and more! Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS).
Who is the leader of the Ehlers Danlos Society?
The Ehlers-Danlos Society is delighted to launch the new vEDS ECHO: a program led by Dr. Sherene Shalhub dedicated to increasing awareness and education in all aspects of diagnosis and management of vascular Ehlers-Danlos syndrome (vEDS).
What kind of disease is vascular Ehlers Danlos syndrome?
More recently it has come to be known as: Vascular Ehlers-Danlos Syndrome ( v EDS). Vascular Ehlers-Danlos Syndrome ( v EDS) is a dominantly inherited, life-threatening connective tissue disorder which results from mutations in the COL3A1 gene. This gene controls the production and assembly of type III collagen.
What to do if you have vascular Ehlers Danlos syndrome?
Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. The treatment and management of vascular Ehlers-Danlos syndrome (EDS) aims to relieve signs and symptoms and prevent serious complications.
How often does vascular Ehlers Danlos ( vEDS ) occur?
VEDS is estimated to occur between 1 in 50,000 individuals to 1 in 200,000 and results from pathogenic variants in COL3A1, which is responsible for producing chains of This story was shared in Spanish, the English version has been translated and in the event of any discrepancies, the original version below with prevail.
A German physician named Georg Sack first recognized it in 1936 and named it Status Dysvascularis. Since then, other names have been used to describe it: Familial Acrogeria, Sack-Barabas Syndrome, Ehlers-Danlos Syndrome, type IV and/or vascular type.