Ehlers-Danlos syndrome (EDS) is the name given to a group of genetic diseases that affect the connective tissue in joints, blood vessels, skin, and other organs. EDS leads to symptoms that range from hypermobility, weak muscles and stretchy skin to cardiac complications.
Apart from a physical examination, skin biopsies, and genetic testing, imaging tests such as X-rays, computerized tomography (CT), and magnetic resonance imaging (MRI) can also help to confirm a diagnosis of EDS.
How do imaging tests help diagnose EDS?
Loose joints and hypermobility are common in EDS, and the disease can also affect the spine and the craniovertebral junction (CVJ) — the area in the neck where the brain and spinal cord meet. An MRI scan can help in visualizing details of the spine, CVJ, and the severity of spinal injury.
A new technique called positional MRI (pMRI) allows patients to stand upright or sit instead of lying down for a scan. Standing or sitting puts weight on the spine, possibly allowing pMRI to better detect the extent of spinal abnormalities.
Brain lesions are also common in patients with hypermobility EDS. MRI can help detect lesions in the brain containing collagen fibers, which are often seen in EDS patients who previously experienced trauma.
CT and MRI can also help in identifying blood vessel abnormalities like an aneurysm (enlarged arteries due to weakened arterial walls) or ruptures that are characteristic of a type of EDS known as vascular EDS.
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.
How to prepare for imaging tests?
Imaging tests such as X-rays do not require any preparation.
Patients should also let the doctor know if they are pregnant, under medication, or allergic to substances such as iodine or gadolinium.
Fasting is usually not required before an MRI scan, unless a person is instructed to do so.
What happens after an imaging test is performed?
After the scans are done, the radiologist and technician will examine the images to ensure they have the necessary clarity and orientation. Depending on the outcome, patients may be required to undergo another scan.
Usually, patients will be able to continue normal activities as soon as the scans are complete. If for some reason a person was sedated for the procedure, he or she must wait until the sedation wears off before trying to operate a car or other vehicle.
The scans are interpreted by the radiologist, and a report is generated so that the doctor can best make a diagnosis and decide next steps in treatment if necessary.
Last updated: Oct. 27, 2019
Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.