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Tests and diagnosis
By Mayo Clinic staffTo diagnose Ehlers-Danlos syndrome, your doctor will likely begin with a complete physical examination and a careful recording of your medical and family histories. Extremely loose joints, fragile skin and a family history of EDS may lead to a diagnosis. Your doctor may also order the following tests:
- Genetic tests. DNA testing is available for classical type EDS, vascular type EDS, kyphoscoliosis type EDS and arthrochalasis type EDS. Prenatal DNA testing and preimplantation genetic diagnosis, a method that tests embryos obtained by in vitro fertilization, may be available for families in which the disease-causing mutation has been identified.
- Urine test. A urine test is available to help identify kyphoscoliosis type. The test measures the levels of an enzyme produced by the gene associated with kyphoscoliosis type. Abnormal levels of the enzyme typically indicate this form of EDS.
- Skin biopsy. In this test, a small sample of your skin is removed and examined under a microscope. Such a test may reveal abnormalities in the skin's collagen fibers. Vascular type EDS can be diagnosed by analyzing collagen produced by skin cells.
- Heart ultrasound. To check for mitral valve prolapse, a heart condition that can occur with the classical and hypermobility EDS subtypes, your doctor may recommend a heart ultrasound (echocardiogram). A heart ultrasound provides real-time images of your heart in motion. It can help identify abnormalities in the heart muscle and valves, and find any fluid that may surround the heart.
