Medical 411: Ehlers-Danlos Syndrome

By Annette Pinder
Ehlers-Danlos syndrome (EDS) is a rare group of inherited disorders caused by genetic mutations that provide your body with instructions for making collagen or other proteins, which are important for connective tissue structure and function. Our connective tissues are responsible for holding parts of our body together, including bones, cartilage, blood vessels, and organs.
Different types of EDS have their own characteristics and potential complications. Hypermobile EDS is the most common type, affecting about 1 in 3,000 to 5,000 people, and is characterized by generalized joint hypermobility, joint instability, and chronic pain. Classical EDS affects about 1 in 20,000 to 40,000 people, and causes skin hyperextensibility, fragile skin, and joint hypermobility. Vascular EDS affects about 1 in 100,000 to 200,000 people, and is characterized by fragile blood vessels and organs, which can lead to ruptures. Other EDS types are even more rare.
Symptoms of EDS can vary, depending on type and severity, but can include joint hypermobility and instability; stretchy or fragile skin; easy bruising; fragile blood vessels and organs; chronic pain; fatigue; and other symptoms.
Diagnosing EDS requires a physical examination, including family history, and possible genetic testing. Treatment involves managing symptoms and preventing complications, and can include physical therapy, pain management, medications, and sometimes surgery. The prognosis for EDS varies depending on the type and severity. Some types have a normal life expectancy, while others can have a shortened life expectancy due to the risk of organ and blood vessel rupture.
If you have a personal or family history of Ehlers-Danlos syndrome and are thinking about starting a family, you may want to consider genetic testing to determine the risk it may pose for you and your children with regard to genetic disorders.
Learn more about Ehlers-Danlos syndrome at https://www.ehlers-danlos.com.