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. Depending on the type of EDS, symptoms can range from loose joints to life-threatening complications.
EDS occurs in about 1 in 5,000 worldwide births, though many of its forms are far rarer. Under the current classification system, 13 types of EDS have been identified.
Different types of EDS can cause different symptoms. Most forms of the disease are marked hypermobility in the joints, meaning the joints readily stretch farther than normal and patients can easily dislocate their joints. Loose joints leading to dislocations are painful, and can require medical attention.
Babies and children with EDS hypermobility often have weak muscles, which can cause delays in the development of motor skills like sitting and walking.
Most 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.
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.
Cardiac complications, particularly with the heart’s valves, mark another form of EDS, while others are characterized by an abnormal and severe curvature of the spine (kyphoscoliosis or scoliosis), or an unusually thin cornea (the clear covering of the eye).
Mutations in at least 19 different genes have been associated with different types of EDS. The more common types of this disease are caused by mutations in genes, like COL5A1 or COL5A2, that encode portions of collagen. Collagen is a protein that provides structure to cartilage and connective tissue. Mutations in the collagen genes lead to structural weaknesses that results in the symptoms of EDS.
Mutations linked with other types of EDS are in genes encoding for proteins involved in regulating the production of collagen proteins, and for helping collagen fold and associate with other cell structural components.
Some types of EDS can be inherited from a person’s parents. Other types arise as a result of new or de novo mutations that were not inherited or evident in family history.
Of the heritable types of EDS, some are inherited in an autosomal dominant pattern, meaning that a single copy of a disease-causing mutation is enough to cause the disease. Others are inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of a disease-causing mutation, one from each parent, to develop the disease.
Most cases of EDS are diagnosed in a physical examination. The physician will also take the medical history of the family to determine whether EDS runs in the family, and determine whether other family members should also be tested for the disease. EDS can be confirmed by genetic testing carried out on a small blood sample.
No cure or disease-modifying therapy for EDS exists, but treatments can help in managing some symptoms and preventing complications. Pain can be minimized using painkillers. Some patients benefit from physiotherapy to improve strength and range of motion safely, as well as learn how to reduce the risk of dislocations. Some patients may require surgery to repair joints or to treat scoliosis.
Last updated: Oct. 10, 2019
Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.