Can Ehlers-Danlos cause venous insufficiency?
Ehlers-Danlos syndrome (EDS) leads to abnormalities in the synthesis of collagen and complications involving arterial vessels. We describe here a mutation in the intron 14 of the COL3A1 gene leading to EDS Type IV (EDS IV) associated with venous manifestations only.
How does Ehlers-Danlos affect blood vessels?
Vascular Ehlers-Danlos syndrome can weaken your heart’s largest artery (aorta), as well as the arteries to other regions of your body. A rupture of any of these larger blood vessels can be fatal. The vascular type can also weaken the walls of the uterus or large intestines — which also may rupture.
What is the most common cause of death among individuals with vascular Ehlers-Danlos?
The major cause of death is arterial dissection or rupture with organ failure. The nature of the underlying mutation in COL3A1 in- fluences life expectancy.
Is EDS terminal vascular?
Vascular Ehlers-Danlos syndrome is a rare, life-threatening, autosomal dominant variant of EDS, resulting from mutations in COL3A1 gene. Affected individuals are prone to serious and potentially fatal complications, especially vascular, intestinal, and uterine ruptures.
What does vascular EDS feel like?
Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs . Vascular EDS is usually caused by a change ( mutation ) in the COL3A1 gene . Rarely, it may be caused by a mutation in the COL1A1 gene.
How common is vascular Ehlers-Danlos Syndrome?
Vascular EDS 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 type III procollagen, a major protein in the walls of blood vessels and hollow organs.
Why is vascular EDS the most serious?
Vascular EDS (vEDS) is a rare type of EDS and is often considered to be the most serious. It affects the blood vessels and internal organs, which can cause them to split open and lead to life-threatening bleeding.
How common is vascular Ehlers Danlos Syndrome?
What is the life expectancy of someone with vascular EDS?
The vascular type is typically a more severe form of EDS and is often associated with a short lifespan. Patients with vascular EDS have an average life expectancy of 48 years.
Why is vascular EDS so serious?
Vascular Ehlers-Danlos syndrome (vEDS, VEDS, previously known as EDS type IV) is an uncommon, dominantly inherited, genetic connective tissue disorder. Vascular EDS is particularly serious because of the risk for spontaneous arterial or organ rupture.
How do you test for vascular Ehlers-Danlos syndrome?
A diagnosis of vascular Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change ( mutation ) in the COL3A1 gene (usually) or the COL1A1 gene (rarely) can be ordered to confirm the diagnosis.
What should be avoided with vascular EDS?
People with VEDS should avoid contact sports, heavy lifting or muscle straining, and activities that may include sudden impact or jarring of the body. Modify exercise according to your doctor’s recommendations. Children with VEDS may need a modified exercise plan at school.