Diagnosing Ehlers-Danlos Syndrome (EDS)

The diagnosis of Ehlers-Danlos syndrome (EDS) involves a health care provider obtaining a family and medical history, performing a physical examination and possibly ordering a variety of medical tests. While a family history of EDS and symptoms of joint hypermobility and stretchy, fragile skin are often sufficient for a diagnosis, tests may be performed to either confirm the diagnosis or rule out other health conditions.

What medical tests can be used to diagnose EDS?

• A skin biopsy may be performed to check for abnormalities in collagen production. A biopsy involves the removal of a small sample of skin to be studied under a microscope.
• An echocardiogram (echo) may be ordered. An echo uses sound waves to create images of the heart; this provides detailed information regarding the pumping action of the heart. EDS may be suspected based on abnormalities in the valves of the heart or other blood vessels.
• Genetic tests are commonly used to confirm an EDS diagnosis. Genetic tests require a blood sample which is tested for mutations in certain genes.

Mutations in 19 genes have been identified as causes of EDS. The different types of EDS are classified in relation to the specific mutated genes. Some of these genes provide instructions for the production of collagen to support the body’s connective tissues. Others provide instructions for the production of proteins that interact with collagen. Mutations in these genes disturb and interrupt the production and processing of collagen which lead to the symptoms associated with EDS.