There is no single test for Ehlers-Danlos syndrome. Most types of EDS are diagnosed through a combination of physical examination, personal and family history, and genetic testing, though the process varies depending on which type is suspected. The most common form, hypermobile EDS (hEDS), has no genetic test at all and is diagnosed entirely through clinical criteria.
The Beighton Score: First Step in Most Evaluations
Almost every EDS evaluation starts with the Beighton score, a nine-point scale that measures joint hypermobility. A clinician will ask you to perform specific movements and award one point for each:
- Bending forward and placing your hands flat on the floor without bending your knees (1 point)
- Straightening each elbow past neutral, or hyperextending it (1 point per elbow)
- Straightening each knee past neutral (1 point per knee)
- Bending each pinky finger back beyond 90 degrees (1 point per finger)
- Bending each thumb back to touch the forearm (1 point per thumb)
A score of four or more generally indicates joint hypermobility. This score alone doesn’t diagnose EDS. It’s one piece of a larger picture. Many people are naturally flexible without having a connective tissue disorder, so the Beighton score serves as a screening tool rather than a definitive answer.
How Hypermobile EDS Is Diagnosed
Hypermobile EDS is the most common type, and it’s also the hardest to confirm because no gene for it has been identified. Diagnosis relies on a checklist published in 2017 that requires meeting three criteria simultaneously.
The first criterion is generalized joint hypermobility, usually confirmed by the Beighton score. The second is a collection of systemic features that suggest a broader connective tissue problem. Clinicians look for things like unusually stretchy or soft skin, a high and narrow palate, dental crowding, small painless fat herniations on the heels (called piezogenic papules), unexplained stretch marks, hernias, and organ prolapse. You need a certain number of these features, or you can satisfy the second criterion through a confirmed family history: at least one first-degree relative (parent, sibling, or child) who independently meets the current hEDS criteria.
The third criterion is essentially ruling everything else out. The clinician must confirm that your symptoms aren’t better explained by another connective tissue disorder, autoimmune condition, or skeletal condition. This step often involves blood work or genetic testing to exclude other types of EDS or related conditions like Marfan syndrome.
Genetic Testing for Other EDS Types
For every type of EDS other than hypermobile, genetic testing can provide a definitive diagnosis. Labs like Mayo Clinic offer gene panels that cover classical, vascular, kyphoscoliotic, dermatosparaxis, musculocontractural, cardiac-valvular, myopathic, and spondylodysplastic EDS, among others. A blood sample or cheek swab is all that’s needed.
If you have a known family mutation, testing can be targeted to that specific gene. If not, a broader panel screens multiple genes at once. A positive result confirms the diagnosis. A negative result doesn’t necessarily rule out EDS, since some mutations may not be detectable with current technology, and hEDS won’t show up on any genetic panel at all.
Genetic testing is particularly important when vascular EDS is suspected, because that type carries serious risks of arterial rupture and organ perforation. Confirming a diagnosis changes medical management significantly.
Skin and Tissue Assessment
During a physical exam, clinicians will assess your skin’s texture and stretchiness. In classical EDS, skin hyperextensibility is a hallmark feature. The examiner may gently pull the skin at specific sites, such as the back of the hand, to see how far it stretches beyond what’s typical. Skin that is velvety, fragile, or scars abnormally (wide, papery, or cigarette-paper scars) points toward classical or certain rarer subtypes.
Some clinicians also check for easy bruising, slow wound healing, and tissue fragility. These features help distinguish between EDS types and can guide decisions about whether genetic testing is warranted.
Vascular Screening for Vascular EDS
If vascular EDS is confirmed or strongly suspected, imaging is used to check for blood vessel abnormalities. CT angiography (CTA) and MR angiography are the preferred methods. Traditional catheter-based angiography is avoided because the fragile arteries in vascular EDS are at high risk of tearing from catheter-related trauma.
The most common findings on imaging are arterial aneurysms and dissections, particularly in the abdominal organs, iliac arteries, and head and neck. Clinicians may also find abnormal widening of arteries or, less commonly, spontaneous fistulas or blood clots. This imaging isn’t part of routine EDS testing. It’s specific to the vascular type and is used for ongoing monitoring as well as initial evaluation.
Testing for Related Conditions
EDS, especially the hypermobile type, frequently travels with other conditions that may need their own testing. Your evaluation might extend beyond the joints and skin.
- POTS (postural orthostatic tachycardia syndrome): Screened by measuring your heart rate lying down and again after standing for 10 minutes. A rise of 30 beats per minute or more suggests POTS. Formal autonomic testing may follow if symptoms persist.
- Mast cell activation syndrome (MCAS): Tested by checking a blood marker called serum tryptase, ideally at baseline and again one to four hours after a flare of symptoms like flushing, hives, or GI distress.
- Celiac disease: A simple blood test (serologic screening) may be ordered earlier than usual in people with hEDS who have diverse digestive symptoms.
- Pelvic floor dysfunction: Common in hEDS, this can be evaluated with specialized tests like anorectal manometry or defecography if you have chronic lower GI symptoms.
- Delayed gastric emptying: If you have chronic nausea, bloating, or early fullness, particularly alongside POTS, testing of gastric motor function may be recommended.
These associated tests don’t diagnose EDS itself, but they help build a complete clinical picture and guide treatment for symptoms that often overlap.
Hypermobility Spectrum Disorder vs. hEDS
Not everyone with symptomatic hypermobility meets the full 2017 criteria for hEDS. Those who fall short are typically diagnosed with hypermobility spectrum disorder (HSD). The distinction matters for research classification, but in terms of daily experience the two conditions overlap significantly. People with hEDS tend to report more dislocations, hernias, and rectal prolapse, while those with HSD often report more joint and muscle pain, gastrointestinal symptoms, sleep problems, and allergies. Both groups can experience substantial pain and disability.
Which Doctors Perform EDS Testing
Most people start with a primary care doctor, who may recognize the signs and refer you to a geneticist. A clinical geneticist is the specialist best equipped to evaluate EDS across all its types, perform or order genetic testing, and differentiate EDS from other connective tissue disorders. Rheumatologists also evaluate hypermobility and joint-related symptoms, though their familiarity with the specific EDS diagnostic criteria varies.
Getting a diagnosis can take time. Many people see multiple specialists before EDS is identified, partly because the symptoms overlap with so many other conditions and partly because awareness of EDS among general practitioners remains uneven. Coming to your appointment with a written list of symptoms, a family history of hypermobility or related problems, and even a self-administered Beighton score can help move the conversation forward.