Overview
Ehlers-Danlos syndrome (EDS) is a group of inherited conditions that affect the body's connective tissues. These tissues provide support and give flexibility to the skin, joints, blood vessels and organs.
There are 13 types of Ehlers-Danlos syndrome. The most common types cause very flexible joints, fragile skin, and a higher risk of bruising and injury. Symptoms typically can be managed.
But some rare forms can lead to life-threatening health issues. The most serious is vascular EDS, which affects blood vessels and can lead to sudden ruptures. Because vascular EDS may cause serious complications during pregnancy, experts recommend that you see a genetic counselor before starting a family.
There is no cure for Ehlers-Danlos syndrome, but treatment can help manage symptoms and lessen complications.
Causes
Ehlers-Danlos syndrome typically is caused by changes in certain genes that affect connective tissue. Different types of EDS are linked to different genes. These gene changes can affect how your body makes or uses collagen, a key protein that gives strength and structure to skin, joints and organs.
Most types of EDS are inherited. This means the gene change is passed from a parent to a child. For example, if you have hypermobile EDS, there's a 50% chance that you will pass it to each of your children. However, sometimes a gene change can happen for the first time in a person with no family history.
While other types of EDS have been linked to specific genes, the genetic cause of hypermobile EDS is not fully understood. No specific gene has been clearly linked to this type. So hEDS is often diagnosed based on other symptoms rather than on the results of a genetic test.
Risk factors
The main risk factor for most types of Ehlers-Danlos syndrome is having a family history of the condition. If a parent has a form of EDS, the children have a higher chance of inheriting the condition.
Because many types of EDS are inherited, genetic counseling can help people understand their chances of passing EDS to their children and decide whether genetic testing is right for them.
Complications
Complications of Ehlers-Danlos syndrome depend on the types of symptoms a person has. For example, very flexible joints can lead to frequent dislocations and an earlier risk of developing arthritis. Fragile skin may tear easily and leave scars.
People with vascular EDS, a rare and serious type, are at risk of serious complications. The walls of large blood vessels can become weak and rupture. One of the most serious ruptures affects the aorta, which is the largest blood vessel in the body. The aorta carries blood from the heart to the rest of the body. If it tears or bursts, it can cause internal bleeding. It can be life-threatening. Other blood vessels and organs, such as the intestines or uterus, also can rupture. This can happen suddenly and without warning. Pregnancy increases the risk of a uterine rupture for people with this type of EDS.
Prevention
If you have Ehlers-Danlos syndrome or a family history of the condition and you're thinking about having children, consider talking with a genetic counselor. Genetic counselors are healthcare professionals who help people understand how conditions such as EDS run in families. They can explain the type of EDS you have, how likely it is to be inherited, and what that might mean for you and your future children.