Ehlers Danlos Syndrome Symptoms
Ehlers Danlos syndrome (EDS) is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Ehlers-Danlos syndrome is uncommon.
In Ehlers-Danlos syndrome, genetic mutations disrupt the production of collagen, a chief component of connective tissue. Doctors have identified several types of Ehlers-Danlos syndrome with varying symptoms, but all types affect your joints, and most affect your skin.
Prominent signs and symptoms of Ehlers-Danlos syndrome include stretchy, fragile skin and flexible joints that extend beyond the normal range of movement. It’s possible to have very flexible, or “double” joints. This isn’t the same as Ehlers-Danlos syndrome.
Complications of Ehlers-Danlos syndrome may limit your physical activities. The syndrome does not affect mental function.
While the severity of symptoms can vary widely, the most common ones are stretchy, fragile skin and extra-flexible joints.
EDS is divided into several types, based on a specific set of symptoms. The most common types are:
Classical type (formerly types I and II) EDS
This type affects about 1 in 10,000 to 20,000 people. Signs and symptoms include:
Loose joints
Highly elastic, velvety skin
Fragile skin that bruises or tears easily
Redundant skin folds, such as on the eyelids
Slow and poor wound healing leading to wide scarring
Noncancerous fibrous growths on pressure areas, such as elbows and knees; fatty growths on the shins and forearms
Muscle fatigue and pain
Heart valve problems (mitral valve prolapse and aortic root dilation)
Hypermobility type (formerly type III) EDS
This type affects approximately 1 in 10,000 to 15,000 people. Signs and symptoms include:
Loose, unstable joints with many dislocations
Easy bruising
Muscle fatigue and pain
Chronic degenerative joint disease
Advanced premature osteoarthritis with chronic pain
Heart valve problems (mitral valve prolapse and aortic root dilation)
Vascular type (formerly type IV) EDS
This type of EDS is rare, but it’s one of the most serious. It affects an estimated 1 in 100,000 to 200,000 people. Signs and symptoms include:
Fragile blood vessels and organs that are prone to tearing (rupture)
Thin, translucent skin that bruises easily
Characteristic facial appearance, including protruding eyes, thin nose and lips, sunken cheeks and small chin
Collapsed lung (pneumothorax)
Heart valve problems (mitral valve prolapse and others)
Other types of EDS
The other types of EDS are extremely rare. Some have only been described in a few families. In addition, the relationship of some of these types to the syndrome as a whole isn’t well defined.
Causes