Posted: June 8th, 2022

Ehlers-Danlos syndrome consists of several different genetic disorders affecting connective tissues, including joints, blood vessel walls, and skin.

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Ehlers-Danlos syndrome consists of several different genetic disorders affecting connective tissues, including joints, blood vessel walls, and skin. The symptoms include an excess of elasticity in the skin and joints, leading to very fragile skin and extra flexible joints. The most common type of Ehlers-Danlos is called hypermobile Ehlers-Danlos syndrome. There are 13 different kinds of Ehlers-Danlos syndrome as of 2017.
Vascular Ehlers-Danlos syndrome is a more severe type of the disorder that impacts the blood vessel walls and makes them so elastic and weak that they can rupture easily. It can also cause the walls of the uterus and intestines to rupture, making pregnancy dangerous for individuals with this disorder. People with vascular Ehlers-Danlos have very thin skin and bruise very easily. Their aortas can become very weak and can rupture, which can be fatal.
Ehlers-Danlos syndromes are caused by mutations in any of at least 20 genes, most of which code the instructions for creating, processing, or folding collagen, the most common protein in the human body. Collagen is a connective tissue that holds other tissues together, including cartilage, bones, skin, and muscles. Without collagen, or with mostly deformed collagen, the connective tissues in the body can be very weak, causing the characteristic over-elasticity of tissue common in Ehlers-Danlos syndrome.
Ehlers-Danlos syndrome can be inherited from a parent, or caused by a new gene mutation in someone with no family history of the disorder. Several types of this syndrome have autosomal dominant patterns of inheritance, meaning that just one copy of the mutated gene in each cell can cause the disorder. Usually, if this type is inherited, at least one parent shows symptoms of the disorder. Other types of this syndrome have autosomal recessive patterns, meaning that at least two copies of a gene in each cell must be mutated in order to cause symptoms. With these types of the syndrome, both parents are usually recessive carriers of one copy of the mutated gene but don’t have any symptoms of the disorder.
There is no cure for Ehlers-Danlos syndrome, but there are some types of treatment available. The most common medication-based therapy for the disorder are pain medications and blood pressure medications. Pain medications help to manage pain that is the result of loose joints and skin that bruises easily. Blood pressure medications help keep blood pressure low in order to reduce the pressure on weakened and fragile blood vessels. Physical therapy can help prevent the dislocation of weakened joints, which is common in this disorder. It helps strengthen the muscles that surround joints, which stabilizes the joints and helps to prevent them from dislocating. Joint braces can also be used for the same purpose. Surgery can sometimes be used to repair joints that sustain damage from dislocation, and ruptured blood vessels and organ walls can also be surgically repaired. However, because of weak connective tissue, surgery is usually avoided because the wounds that result from it do not heal well, and stitches often tear through skin and other tissues because of the lack of collagen in the tissues.
People with Ehlers-Danlos syndrome have to be very careful about sports, chewing crunchy and gummy foods, and ankle sprains especially when it comes to joint injuries.

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