What is the genetic marker for Ehlers-Danlos?

Causes. Mutations in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. Mutations in the COL5A1 or COL5A2 gene, or rarely in the COL1A1 gene, can cause the classical type.

Is Ehlers-Danlos syndrome fatal?

People who have vascular Ehlers-Danlos syndrome are at risk of often fatal ruptures of major blood vessels. Some organs, such as the uterus and intestines, also may rupture.

What is the lifespan of someone with EDS?

Patients with the classical and hypermobility forms of Ehlers-Danlos syndrome have a normal life expectancy. About 80% of patients with vascular Ehlers-Danlos syndrome will experience a major health event by age 40 and the life expectancy is shortened, with an average age of death of 48 years.

Does EDS get worse with age?

Many of the problems associated with EDS are progressive, meaning that they get worse over time. Kyphoscoliosis EDS (kyphosis and scoliosis) is a form of Ehlers-Danlos Syndrome that is noted for severe, progressive curvature of the spine. It worsens over time and may affect breathing by restricting lung expansion.

Does Michael Phelps have Ehlers-Danlos?

About 10% of all people have loose joints that don’t cause any problems; Michael Phelps is one example. Others with hypermobile joints may develop potentially serious health concerns and complications and thus are considered to have a medical disorder, such as Ehlers-Danlos syndrome (EDS).

Is EDS an autoimmune?

In the United States, two million people live with rheumatoid arthritis, and another 1.5 million live with lupus. A much rarer group of connective tissue disorders is called Ehlers-Danlos syndrome. Unlike the diseases noted above, Ehlers-Danlos syndrome is not an autoimmune condition, it’s an inherited disorder.

What are the characteristics of Ehlers Danlos syndrome?

Ehlers-Danlos syndrome, vascular type. People who have Ehlers-Danlos syndrome, vascular type, often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily.

How does Ehlers-Danlos syndrome affect the heart?

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.

Can Ehlers Danlos syndrome be passed to children?

Causes. Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. If you have the most common varieties of Ehlers-Danlos syndrome, there’s a 50 percent chance that you’ll pass on the gene to each of your children.

What is Ehlers-Danlos syndrome and how is it treated?

Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls.