Ehlers-Danlos syndrome (EDS) refers to a group of genetic disorders affecting the connective tissues that provide structure to joints, skin, blood vessels, and other tissues and organs. EDS is typically characterized by unusually mobile joints and soft, stretchy skin.
Depending on the type of EDS and other factors, symptoms can range from mild to life-threatening.
Mutations in at least 20 different genes have been shown to cause various types of EDS, although in some cases, the disease-causing mutation is unknown. Most identified EDS-causing mutations affect the production and function of collagens, a group of important structural proteins. Defects in collagen lead to the structural weaknesses that underlie the disorder’s symptoms.
EDS-causing mutations can be passed from parents to their biological children. For most genes, everyone inherits two copies, one from each parent. Depending on EDS type and the specific disease-causing mutation, the disorder can be inherited in an autosomal dominant pattern — where one mutated gene copy is sufficient for EDS — or in an autosomal recessive pattern, where the disease only develops if both gene copies are mutated.
Diagnosing EDS usually involves a physical examination to test for characteristic symptoms like unusually mobile joints. A patient’s medical and family history, including of EDS, will also be assessed to help in determining whether other family members should also be tested for the disease. Genetic testing to identify a mutated gene or genes can be used to confirm a diagnosis and help to determine which EDS type is present.
Under the current 2017 classification system, EDS is divided into 13 different types. The most common is hypermobile EDS, estimated to affect as many as 1 in 5,000 people worldwide and characterized by fragile skin and abnormally flexible joints with joint dislocations a frequent problem.
Another common type is classical EDS, thought to affect about 1 in every 20,000 people. Vascular EDS, which is characterized by weak blood vessels that increase the chance of dangerous bleeding as well as fragile skin, affects about 1 in 100,000 people worldwide and is generally considered the most severe EDS form.
Different symptoms can mark the various EDS types. But most disease forms are distinguished by joint hypermobility, meaning the joints readily stretch farther than normal, and patients can easily dislocate their joints.
Many EDS patients have soft, velvety skin that is extremely stretchy or elastic and can also be very fragile. EDS patients tend to bruise easily and may scar abnormally.
Infants and children with EDS often have weak muscles, which can cause delays in the development of motor skills like sitting and walking. Joint hypermobility, again, is common in EDS patients.
Cardiac complications, particularly with the heart’s valves, mark another form of EDS, while others are characterized by an abnormal and progressive curvature of the spine (a sideways curvature that’s called scoliosis, in combination with a hunched back), or an unusually thin cornea (the clear covering of the eye).
Some types of EDS can cause spontaneous tears in blood vessels, which can lead to internal bleeding and life-threatening complications, including organ tears or ruptures. EDS also can cause complications during pregnancy.
No cure for EDS exists, but treatments can help in managing some symptoms and in preventing complications. Painkillers, for example, can help in minimizing pain, while blood pressure medications can reduce the stress on vessels.
Non-drug therapies like physiotherapy can help EDS patients to safely improve their strength and range of motion, stabile their joints, and learn how to reduce the risk of dislocations. Some patients may require surgery to repair damage to joints or organs, or to treat spinal complications, although surgery has its own complications with the fragile skin of EDS.
Last updated: Dec. 29, 2021, by Marisa Wexler MS
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