A diagnosis of Ehlers-Danlos Syndrome (EDS) will start with a physical exam and an individual health history, which can reveal any conditions associated with EDS (such as a pattern of frequent injuries). It’s also important to get a family history, since many types of EDS can be passed on from parent to child. A doctor, typically a geneticist, will test for extra-loose joints, odd scarring (often noted to look like cigarette paper), and abnormal skin (loose and stretchy; unusually soft and velvety). There are several types of EDS, and they tend to share some characteristics symptoms; signs of EDS are also similar to features of other connective-tissue disorders. An individual’s specific signs and symptoms that are revealed in the clinical physical exam and history, in addition to results from the following tests, will help to narrow down the diagnosis to the specific type of Ehlers-Danlos Syndrome.
Tests used to diagnosis Ehlers-Danlos Syndrome:
A physician may make a diagnosis of EDS based on examination of a person’s skin and joints and learning the family history. However, genetic (DNA) testing may also be ordered to confirm EDS or the specific type that is present by pinpointing the specific genes that are mutated. (DNA testing can be done with a simple blood draw.) Not all patients have DNA testing that finds an underlying mutation and this doesn’t rule out EDS – it only rules out those types that have been identified.
In addition, imaging studies, such as the following, are often used to determine the specific type of EDS:
X-rays from different angles can be compared and checked for changes from past X-rays to determine progression of a curve in the spine caused by EDS.
Computerized tomography (CT) is a noninvasive procedure that uses X-rays to produce a three-dimensional image of the spine. A CT shows more details than an X-ray and can reveal the nerves, spinal cord, and any possible damage to them.
Magnetic resonance imaging (MRI) uses magnetic fields and radio-frequency waves to create an image of the spine that reveals the discs, nerves, spinal canal, and other details that can’t normally be seen on an X-ray. An MRI may also be used to check for spinal-cord compression. Sometimes a contrast agent is injected into a vein in the hand or arm during the test, which highlights certain tissues and structures to make details even clearer.
Myelograms involve a dye that is injected directly into the spinal column and are used in conjunction with CT scans.
Electromyogram and nerve-conduction studies (EMG/NCS) measure the electrical activity in the nerves and muscles. They may any identify nerve damage or nerve compression that EDS has led to.
Pulmonary-function tests may be ordered to determine if lung function is restricted due to decreased space in the chest from kyphosis or scoliosis that can be features of a type of EDS.
An angiography echocardiogram (heart ultrasound) may be ordered if heart problems are suspected.
Reviewed by Jeffrey Greenfield, MD, PhD
Last reviewed/last updated: April 2021