Ehlers-Danlos

Ehlers-Danlos syndrome is a rare inherited disorder of the connective tissue, marked by loose joints, hyperelastic skin that bruises easily, and easily damaged blood vessels.

Characteristics

The condition disrupts the production of collagen, the material that provides strength and structure to skin, bone, tendons, ligaments, cartilage, blood vessels, and internal organs. There are several types of Ehlers-Danlos syndrome, but each type affects the joints, and most types affect the skin. Some forms of this condition can lead to the rupture of internal organs, abnormal heart valves, or aneurysms.

People with Ehler-Danlos syndrome generally have a normal life span, and mental function is not affected. Those with the rare vascular type of the disorder are at significantly increased risk for rupture of a major organ or blood vessel, which can be fatal.

Treatment

There is no cure for Ehlers-Danlos syndrome, but doctors can treat the individual conditions associated with the disorder. Doctors may recommend physical therapy to strengthen muscles or prescribe medication for joint or muscle pain. In rare cases, surgery may be necessary to repair joints that have been dislocated several times.

Most women with Ehlers-Danlos syndrome can have successful pregnancies, but a doctor should monitor them throughout their pregnancies for signs of complications.

Genetic Inheritance

Ehlers-Danlos syndrome is an autosomal dominant inheritance. This means only one dominant gene needs to be passed on by a parent to develop symptoms of the disorder. If you inherit the genetic mutation, each of your children will have a 50 percent chance of inheriting the gene as well.

UT Southwestern Medical Center is a leader in research, testing, and care of genetic disorders. We use a multidisciplinary approach to treat the symptoms of the disorder. Working with Children’s Health, our Genetics and Metabolism Clinics have special interests in the diagnosis and management of a variety of genetic conditions.