Flexible joints allow you to have a full range of motion, accomplishing everyday activities without stiffness or pain. However, excessive flexibility, or hypermobility, can sometimes signal an underlying health condition.
Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the body’s connective tissues, causing a range of symptoms, including loose, hypermobile joints and stretchy, fragile skin. Jill R. Schofield, MD, founder and director of the Center for Multisystem Disease in Denver Colorado, provides expert diagnosis and care for EDS and the health comorbidities that can go along with it.
One common question families ask is whether EDS is hereditary, and the answer is often complex. While most forms of EDS are inherited from your parents and can be passed down to your kids, that’s not always the case. Here, we explore what you and your family need to know about EDS.
There are 13 recognized types of EDS, and they share a common characteristic: affecting the proteins and other substances that make up the body’s connective tissues. These tissues are what hold your body together, providing structure to your skin, bones, organs, and blood vessels. Here are the most common EDS types:
Over 90% of people with EDS have hypermobile EDS (hEDS). It causes excessively flexible joints that are prone to dislocation and often leads to chronic musculoskeletal pain.
Often associated with stretchy skin, easy bruising, and abnormal wound healing, classical EDS (cEDS) can also cause digestive issues and cardiac problems. It’s possible to have a mild form of cEDS and not realize it, as symptoms can be subtle.
Vascular EDS (vEDS) is a serious form of EDS that affects the blood vessels. It can lead to life-threatening complications such as aortic dissection — a tear in the wall of your largest artery — and the spontaneous rupture of vital organs like the intestines or uterus. This type of EDS requires careful medical monitoring and management.
The various forms of EDS are primarily hereditary, meaning they’re passed down through families. Specific gene mutations disrupt the production of collagen and other substances that make up connective tissue.
If a parent carries a mutated gene for EDS, there’s a chance that they can pass it to their child. Some forms of EDS — like cEDS, hEDS, and vEDS — appear to follow a dominant inheritance pattern, meaning a single copy of the mutated gene from one parent may be enough to cause the disorder.
Others follow a recessive pattern, requiring two copies of the mutated gene, one from each parent, for the condition to develop. Rarer forms of EDS, such as kyphoscoliotic EDS and brittle cornea syndrome, are typically inherited in this manner.
It’s important to note that while EDS is typically a hereditary condition, there’s also the possibility of new, or de novo, mutations. This means a genetic mutation can occur spontaneously in a single individual, making them the first person in their family to have EDS.
There isn’t a cure for EDS, however, effective management strategies can significantly improve your quality and enjoyment of life. Treatment often focuses on addressing specific symptoms and recognizing and treating important comorbidities that may occur.
Regular exercise, physical therapy, occupational therapy, and pain management techniques can help manage joint discomfort and mobility issues. Regular checkups with Dr. Schofield are essential for monitoring potential complications and making timely interventions.
If you have EDS and you’re thinking about starting or expanding your family, we may recommend genetic testing to assess your risk of passing the condition to your children. This can provide you with valuable information to make informed decisions about family planning.
If you suspect that EDS may be behind your loose joints or easy bruising, Dr. Schofield offers comprehensive diagnosis and care for EDS and its related conditions. Schedule an appointment today at the Center for Multisystem Disease for specialized, compassionate care.
