Ehlers-Danlos syndrome (EDS) is the name given to a group of genetic disorders characterized by weakness in the connective tissues that give structure to joints, organs, blood vessels, and skin.
One of the ways that people are diagnosed with EDS is by physical examination.
What happens in a physical exam?
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.
How can a physical exam help diagnose EDS?
Each type of EDS has specific symptoms that a physician can use to reach a diagnosis. Most EDS patients have soft, velvety skin that is quite fragile. Some patients may have scars from previous injuries that have not healed completely.
Most EDS patients also have hypermobility in some or all joints, which can be assessed using a scale called the Beighton scoring system: Patients are asked to bend the joints of their fingers, thumbs, elbows, knees, and spine, and then the greatest angle that they can comfortably reach is measured. For example, if patients can bend their pinkie fingers back more than 90 degrees, they get a score of 1 for each hand. A score of 5 or more on the Beighton scale indicates joint hypermobility.
The 2017 international diagnostic criteria for EDS detail several physical attributes that characterize each of the 13 types.
What happens after a physical exam?
Further testing is sometimes needed after a physical exam. If a patient shows some indications of EDS, the doctor may order additional tests to determine whether the patient has any heart problems, which is common in some EDS types. Other tests may be required for other types.
Based on the results of all assessments, the physician may order a genetic test to confirm the patient’s specific genetic mutation. The physician may also recommend that the patient’s family members be tested for the same mutation. Occasionally, a patient may need to meet with a genetic counselor to discuss their genetic mutation and the risks that their children may inherit EDS.
Last updated: Oct. 15, 2019
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