Diagnosis of Ehlers-Danlos Syndrome

Results from a genetic test can confirm an EDS diagnosis, differentiate between types of the disease, and identify EDS carriers among family members of the affected individual. Several EDS associated genes can be assessed in one test to determine a suspected genetic mutation.

Imaging tests such as X-rays, CT scans, and MRI can also help to confirm a diagnosis of EDS. An MRI scan can help in visualizing details of the spine, craniovertebral junction, and the severity of spinal injury. X-rays can help in detecting ligament damage and labral tears in joints, such as the hip and shoulder, that are common in EDS patients.

During a physical examination for EDS, a physician looks over a patient’s body to determine whether they have any symptoms of the disease, or any visible changes from what’s considered normal. The exam may also include assessments of physical strength, mobility, or flexibility.

A skin biopsy is a procedure in which a small sample of skin is removed from the patient’s body. Defects in the connective tissue in EDS can be visualized in the skin under a microscope. A skin sample also can be used for genetic testing to determine the type of EDS a patient has.

Urine tests are a non-invasive, cost-effective tool that can diagnose some types of EDS. These tests detect changes in the concentration of a specific chemical compound that can directly indicate the underlying disease. They also can be used to monitor disease progression and the efficacy of treatments.