Question 1

What Is Vascular Ehlers-Danlos Syndrome?

Accepted Answer

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...

Question 2

What Causes Vascular Ehlers-Danlos Syndrome?

Accepted Answer

Vascular Ehlers-Danlos syndrome is typically caused by a change (mutation) in the COL3A1 gene. Rarely, it may be caused by a mutation in the COL1A1 gene.The COL3A1 gene...

Question 3

How Is Vascular Ehlers-Danlos Syndrome Inherited?

Accepted Answer

Vascular Ehlers-Danlos syndrome is typically inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene...

Question 4

What Are the Signs and Symptoms of Vascular Ehlers-Danlos Syndrome?

Accepted Answer

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...

Question 5

How Is Vascular Ehlers-Danlos Syndrome Diagnosed?

Accepted Answer

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)

Question 6

How Might Vascular Ehlers-Danlos Syndrome Be Treated?

Accepted Answer

The treatment and management of vascular Ehlers-Danlos syndrome (EDS) aims to relieve signs and symptoms and prevent serious complications. For example, people with vascular EDS have tissue...

Question 7

What Is the Long-Term Outlook for People with Vascular Ehlers-Danlos Syndrome?

Accepted Answer

The long-term outlook (prognosis) for people with vascular Ehlers-Danlos syndrome is generally poor. It is typically considered the most severe form of EDS and is often associated with a shortened...