Vascular Ehlers-Danlos Syndrome (vEDS) falls into the larger group of inherited disorders that affect your connective tissues. Since connective tissues provide strength and elasticity to the structures of your body, people with different forms of EDS can have more flexible joints or problems with wound healing. In vascular EDS, the blood vessel system is most affected.
What is a gene mutation?
Vascular EDS results from a change (usually referred to as a mutation) in the COL3A1 gene. To understand the gene mutation that causes vEDS, it can be helpful to learn about DNA. You may have heard that you get your genes from your parents. This is true; DNA is passed down from parents to children in the form of genes. You can think of DNA as the instruction book for your body. These instructions tell your body how to grow, develop, and function. When DNA is damaged or changed, the instruction book for your body can change. This is called a gene mutation. Some gene mutations can affect the way your body functions.
The COL3A1 gene
People with vEDS have a mutation in their COL3A1 gene, so their body’s instructions for making collagen may be changed. The COL3A1 gene plays a central role in making type III collagen, a major protein that helps form the walls of blood vessels and hollow organs, such as the stomach. The mutation in the COL3A1 gene that causes vEDS can result in your body making less type III collagen, or making type III collagen that does not work properly. That’s why people with vEDS can suffer problems such as ruptures in their arteries or intestines.
Inherited or de novo mutation
Each child born to a parent with vEDS has a 50% chance of inheriting the disease. Although you get your DNA from your biological parents, you do not always get a gene mutation from them. Sometimes, your DNA is changed or damaged after you get it from your parents. This is called a de novo mutation. In the case of a de novo COL3A1 gene mutation, a child can have vEDS even though both parents do not.
Consider genetic testing
Other rare conditions, such as Loeys-Dietz syndrome, Marfan syndrome, and familial arterial aneurysm and dissection syndromes, can have similar symptoms to vEDS. Only a genetic test can show whether you have a mutation in the COL3A1 gene and confirm a vEDS diagnosis. You can talk to your doctor or geneticist about the need for a genetic test. If your doctor decides that genetic testing is the right step, a sample of your blood or saliva will be sent to the lab. The lab will use your sample to figure out whether you have a mutated COL3A1 gene. The lab will send the test results back to your doctor or, in some cases, to you. Genetic testing can confirm your diagnosis and may also help you advocate for your medical needs and make more informed decisions about your health.