Diagnosing Hypermobile Ehlers-Danlos Syndrome (hEDS) can be challenging, as symptoms vary widely, and there is no specific genetic or blood test to confirm it. Instead, doctors rely on clinical criteria, as outlined in the 2017 International Classification of Ehlers-Danlos Syndromes [1].

The diagnostic process involves multiple steps, which we break down in detail below. However, we know that navigating these criteria can feel overwhelming. That’s why we’ve developed an evidence-based online test to help you determine whether you might benefit from professional support. Take the test!

Whether you take the test or not, understanding the diagnostic process is key to getting the right support. Now that you know why diagnosing Hypermobile Ehlers-Danlos Syndrome (hEDS) can be complex, let’s walk through the step-by-step process that doctors use to assess hEDS. These steps will help you prepare for your appointment and ensure you have the right information to discuss with your healthcare provider.

Step 1: See a knowledgeable Ehlers-Danlos Syndrome or Hypermobility-aware doctor

• If you suspect you have hEDS, start by visiting a GP, General Physician or Rheumatologist, who understands connective tissue disorders.
• They will need to use the 2017 International Classification for hEDS diagnosis outline to make an accurate assessment and you can take the summary from our screening test with you to assist them.
• They will then take a detailed medical and family history to look for patterns of Hypermobility and connective tissue related symptoms.

Step 2: Assess Generalised Joint Hypermobility (GJH)

• The Beighton Score is used to measure how flexible your joints are.
• You’ll be asked to perform specific movements, such as bending your thumb to your wrist or touching the floor with straight legs. These need to be done accurately.
• A score of 5 or more (for adults 18-50) and a score of 4 or more for adults over 50 suggests Generalised Joint Hypermobility (GJH).

Step 3: Check for Hypermobility in your past

Your doctor will look at your hypermobility in the past (as we often tighten over time with age and injury) and will to confirm at least two of the following criteria:

• Can you now (or could you ever) place your hands flat on the floor without bending your knees?
• Can you now (or could you ever) bend your thumb to touch your forearm?
• As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits?
• As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion?
• Do you consider yourself “double jointed”?

Step 4: Check for additional criteria

A history of joint instability-related injuries (must have at least one)

• Frequent joint dislocations or subluxations (partial dislocations) without much force
• Chronic joint pain or early-onset osteoarthritis for a more than 3 months
• Muscle and or joint pain across at least 2 limbs (arms or legs) that is considered chronic

Family history of hEDS or other types of EDS

Since hEDS is inherited, having a close relative with the condition supports the diagnosis.

Step 5:  Other characteristic symptoms (5+ must be present)

In addition to Generalised Joint Hypermobility (GJH), your doctor will evaluate other characteristic symptoms associated with Hypermobile Ehlers-Danlos Syndrome (hEDS). These signs help determine whether your connective tissue is affected beyond the joints. To meet the diagnostic criteria, at least five or more of the following features should be present:

• Really soft, doughy or velvety skin
• Mildly over stretchy, or fragile skin
• Easy bruising or poor wound healing, or odd stretched scarring
• Unexplained stretch marks on your skin
• Nodules or soft bubbly bumps at your wrists or around your feet, ankles and arches
• Hernias in and around your abdomen area – A hernia occurs when an internal organ or tissue pushes through a weak spot in the surrounding muscle or connective tissue. This can create a noticeable bulge or lump, which may cause discomfort, pain, or other symptoms depending on its size and location.
• Dental issues like crowded teeth, high roof of mouth or gum problems
• Extra-long fingers and thumbs-some people call them spidery fingers
• Digestive issues, fatigue, or autonomic dysfunction (e.g., dizziness, heart rate irregularities)
• A prolapse- this happens when an organ or tissue shifts out of its normal position and pushes into or outside the body due to weakened muscles or connective tissue. It commonly affects areas like the pelvis (bladder, uterus, rectum) but can also occur in other parts of the body.
• A heart valve problem or prolapse the mitral valves of the heart
• Unusually wide heart arteries especially the large one known as the aorta
• A larger than normal arm span-to-height ratio. This compares the length of your arms (from fingertip to fingertip when stretched out) to your height. If your arm span is equal to or shorter than your height, the ratio is around 1.0 or less (which is typical). If your arm span is significantly longer than your height, the ratio is 1.05 or higher, which can be a sign of certain medical conditions, like Marfan syndrome or some connective tissue disorders.

Step 6: Rule out other conditions

• Many symptoms of hEDS overlap with other disorders (e.g., auto immune conditions and Marfan syndrome, Loeys-Dietz syndrome, other types of EDS)[2].
• Your doctor may order additional tests (e.g., genetic testing, imaging, blood tests) to rule out these conditions.

Step 7: Confirmation: Diagnosing Hypermobile Ehlers-Danlos Syndrome (hEDS)

• A diagnosis of hEDS is made if all required criteria are met and no other explanation is found.
• If your symptoms don’t fully match the hEDS criteria but still suggest a connective tissue disorder, you may be diagnosed with Hypermobility Spectrum Disorder (HSD).

What happens after diagnosis?

Since Hypermobile Ehlers-Danlos Syndrome (hEDS) has no cure, treatment focuses on managing symptoms and preventing complications. A personalised care plan should be developed with a team of healthcare professionals who are knowledgeable about EDS and Hypermobility. This team should work collaboratively to support your health priorities and symptom management.

A multidisciplinary approach is essential for effective care. Support from rheumatologists, physiotherapists, pain specialists, and other healthcare professionals can help you manage symptoms and improve your quality of life. If you suspect you have hEDS, seeking medical and allied health advice early can help you access the right support.

Your care team may include:

• Counsellor
• Dietician
• Exercise physiologists
• Occupational Therapists
• Osteopaths
• Physiotherapists
• Psychologist
• Podiatrist
• Speech-language pathologists
• General Practitioner (GP)
• Rehabilitation physician
• Pain physician
• Cardiologist
• Other medical specialists as needed

References

[1] Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., Colombi, M., Demirdas, S., De Paepe, A., Fournel-Gigleux, S., Frank, M., Ghali, N., Giunta, C., … Tinkle, B. (2017). The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 8–26. https://doi.org/10.1002/ajmg.c.31552

[2] Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017). Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 48–69. https://doi.org/10.1002/ajmg.c.31538