What is vascular Ehlers-Danlos Syndrome?
Vascular Ehlers-Danlos Syndrome (vEDS) is a rare inherited disorder that can lead to in , intestines, and hollow organs, like the uterus and bowel. This is because vEDS weakens the body's .
EXPERTS ESTIMATE THERE ARE AS MANY AS 5,000 AMERICAN WITH vEDS. ROUGHLY 2,000 CASES ARE KNOWN AT THIS TIME.
What causes vEDS?
Connective tissue gets its strength from a
Normally, collagen keeps the tissue elastic and able to stretch without tearing. A called COL3A1 plays a central role in producing type III collagen, a major protein present in the walls of blood vessels and hollow organs. For people with vEDS, a mutation in the COL3A1 gene leads to defects in type III collagen and/or reduced amounts of type III collagen. This defect in the COL3A1 gene is what causes vEDS.
How can I tell if I have vEDS?
Every person with vEDS is different, but there may be signs in your medical history. Here are some things that are common in people with vEDS:
- , , or in arteries
- Rupture in intestines
- Rupture in uterus during pregnancy
- A collapsed lung
- Dislocated hip (at birth)
- Family history of vEDS
Roll over the figure to see more signs and symptoms.
Remember—everyone with vEDS is different. You do not need to have all of these symptoms in order to be diagnosed with vEDS. Or, you may have many of these symptoms and not have vEDS.
Talk to your doctor if you suspect you might have vEDS.
How is vEDS diagnosed?
Like many other rare diseases, the diagnosis for vEDS can be delayed or misdiagnosed, sometimes for many years. vEDS is typically diagnosed or suspected based on clinical signs or events, and usually only after a major vascular event.
Since vascular EDS can look like other rare aortic conditions like Loeys-Dietz syndrome, Marfan syndrome, or familial arterial aneurysm and dissection syndromes, vEDS should be confirmed with a genetic test. Not every doctor tests for vEDS. You may need to tell your doctor that you would like to be referred to a geneticist for testing.LEARN MORE ABOUT GENETIC TESTING
How is vEDS managed?
Up to a quarter of people with vEDS experience their first related medical complication by age 20. By the time they get to 40 years of age, more than 80% may have suffered a major vEDS-related arterial event. These can include arterial and , spontaneous , and organ ruptures. Right now, there is no cure for vEDS, but there are steps you can take that might help you manage it.
Take extra precautions.
Some activities can be harmful for people with vEDS. Talk to your doctor about the risks associated with the following activities and medical treatments:
- Collision sports, heavy lifting, and weight training that could cause
Monitor your body.
Your doctor may be able to monitor the potential risk of a major vascular event using:
The potential risks and benefits of each of these procedures should be discussed with your doctor.
Ask your doctor to monitor your blood pressure on a regular basis to allow for early treatment if hypertension develops.
Because the signs and symptoms are varied, vEDS is ideally treated by a team of experts who specialize in different areas of the disease.LEARN MORE ABOUT CREATING A CARE TEAM
What impact can vEDS have on family planning?
Pregnancy can cause life-threatening complications for women with vEDS. Talk to your doctor or OB/GYN if you are pregnant or think you might become pregnant. You should also know that vEDS can be inherited. This means if someone (whether they're the mother or the father) with vEDS has a child, there is a 50% chance the child will have vEDS.
EACH CHILD BORN TO A PARENT WITH vEDS HAS A 50% CHANCE OF INHERITING THE DISEASE
What is the life expectancy for someone with vEDS?
Life expectancy for people with vEDS can range anywhere from age 10 to age 80, with the average age at 51 years. This means half of all US patients live to be over 51 years old.