Ehlers-Danlos Syndrome

Diagnosis

At Mayo Clinic, teams of specialists work together to determine the correct diagnosis and most appropriate treatment for patients with Ehlers-Danlos syndrome.

DNA testing is available for the classical, vascular, kyphoscoliosis and arthrochalasis types of EDS. Prenatal DNA testing may also be recommended.

Urine tests measure the levels of an enzyme produced by the gene associated with kyphoscoliosis-type EDS.

In skin biopsies, a small sample is examined under a microscope for abnormalities in the skin's collagen fibers that indicate vascular type EDS.

Specialists may recommend an echocardiogram (ultrasound of the heart) to check for mitral valve prolapse, a heart condition that can occur with the classical and hypermobility EDS subtypes.