Ehlers-Danlos syndrome is a group of genetic connective tissue disorders characterized by unstable, hypermobile joints, loose, “stretchy” skin, and fragile tissues.
People with Ehlers-Danlos features need to see a doctor who knows about this and other connective tissue disorders for an accurate diagnosis; often this will be a medical geneticist. It is very important that people with Ehlers-Danlos syndrome are diagnosed early so they can begin the right treatments to prevent serious complications.
What causes Ehlers-Danlos syndrome?
Like Marfan syndrome, Ehlers-Danlos syndrome is caused by a defect in the body’s connective tissue. Unlike Marfan syndrome, the fragile tissues and skin and unstable joints found in Ehlers-Danlos syndrome are due to defects in a group of proteins called collagen, proteins that add strength and elasticity to connective tissue.
What are the types of Ehlers-Danlos syndrome?
There are several different types of Ehlers-Danlos syndrome, each with its own set of features and complications. The most common form of Ehlers-Danlos syndrome is Ehlers-Danlos Hypermobility Type. It is characterized by loose joints and chronic (long-term) joint pain. Other forms of Ehlers-Danlos syndrome can involve serious and potentially life-threatening complications. These include:
- Vascular Ehlers-Danlos syndrome, which can cause blood vessels to tear (rupture) unpredictably. This can lead to internal bleeding, stroke, and shock. Vascular Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy.
- Kyphoscoliosis form of Ehlers-Danlos syndrome, which is associated with severe, progressive curvature of the spine that can interfere with breathing.
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