Vascular Ehlers-Danlos Syndrome (VEDS)

What Is VEDS?

Vascular Ehlers-Danlos syndrome (VEDS) is one of the different subtypes of Ehlers-Danlos syndrome (EDS). We follow patients with diagnoses of VEDS in our Connective Tissue Disorder Program here at Lurie Children’s.

EDS is a group of rare inherited (genetic) disorders that affect the connective tissue in the body. Connective tissue is made up of proteins that play important roles in our growth, development and many other functions in the body. It provides support for our tissues and organs, transports and stores nutrients, helps to repair damaged tissues, and more.

Like other types of EDS, VEDS can affect different parts and systems in the body, including arteries (vascular system), lungs (pulmonary system), bowel (gastrointestinal system), muscles, joints and skin.  In VEDS, the connective tissue is fragile and prone to tear, which can be life-threatening in the arteries, lungs and bowel.

What Causes VEDS?

VEDS is caused by genetic variants (sometimes called mutations) in the COL3A1 gene that provides instructions for cells in the body to make a connective tissue protein called collagen III. Depending on the type of genetic change in COL3A1, the body makes a form of collagen III that doesn’t work as it should or makes a reduced amount of working collagen III.

We have two copies of our COL3A1 gene, one copy from each parent. VEDS is an autosomal dominant condition. This means a genetic variant that affects the function of collagen III in one copy of the COL3A1 gene is enough to cause VEDS. Sometimes a person inherits VEDS from a parent who has the condition, and other times the genetic variant that causes VEDS occurs for the first time (de novo) in the person with the condition.

What Are the Signs and Symptoms of VEDS?

The type of signs and symptoms seen in VEDS, as well as the severity, varies widely. Some of the signs and symptoms include:

  • Easy or sudden bruising that cannot be explained by other causes
  • Rupture of an artery or tear on the inside of an artery (arterial dissection)
  • Hole in the bowel (gastrointestinal perforation)
  • Tearing of the uterus (uterine rupture)
  • Sudden collapsed lung (spontaneous pneumothorax)
  • Thin, fragile skin

How Is VEDS Diagnosed?

A diagnosis of VEDS may be suspected when someone has some of the above signs and symptoms that characterize the disorder. An evaluation with a detailed physical exam and thorough medical and family history is typically performed, and imaging studies may aid in the diagnostic workup. To confirm the diagnosis, genetic testing is typically done on a genetic sample (such as blood) to look for genetic variants in the COL3A1 gene that indicate VEDS. Once a diagnosis of VEDS is confirmed, biological relatives should have a physical exam and genetic testing for the disorder.  

How Is VEDS Treated?

There is no cure for VEDS, but it can be managed and monitored with a multi-disciplinary care team that consists of a primary care physician (PCP) and specialists. Specialists often include a heart doctor (cardiologist) geneticist, physical therapist and genetic counselor. It is important to establish an emergency care plan, monitor the vascular system regularly and continue regular care and screenings for good health.

Appointment/Referral Information

If your child or patient has not had genetic testing, please call the Division of Genetics, Genomics and Metabolism at 312.227.6120.

If your child or patient has already had genetic testing, please:

In addition to in-person visits, we now offer telemedicine visits via video or phone. Some appointments will still require you to be seen in-person, but your doctor and care team will let you know if a telemedicine appointment is available.

Please note, we see new patients ages 0 to 18 years old. If you are above 18 years old, please call Northwestern Medicine's Bluhm Cardiovascular Institute at 312.664.3278 to be seen by a cardiologist who specializes in adult care of connective tissue disorders. 

Resources and References

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