Getting a diagnosis for Ehlers-Danlos Syndrome (EDS) usually starts with seeing an EDS or Hypermobile aware Allied health professional or your GP.  They will ask about your symptoms and medical history. The process of getting a diagnosis of Ehlers-Danlos Syndrome (EDS) generally involves several steps, as it can be complex due to the wide variety of symptoms and subtypes of the disorder.

The diagnostic process often takes time and involves:

• Understanding your past and current symptoms
• A physical examination
• Listening to your family history
• and sometimes lab/blood tests to rule out other conditions

If your doctor thinks it could be EDS, (not the Hypermobile Ehlers-Danlos Syndromes type) you might need genetic testing to confirm the diagnosis, as 12 of the 13 types of EDS are linked to specific gene mutations. At this point there are no genetic tests or biological markers for hypermobile form (hEDS), and Hypermobility Spectrum Disorders (HSD) so diagnosis of these disorders is complex and often is misdiagnosed or underdiagnosed.

However, because there are different types of EDS, the diagnosis can sometimes be a bit tricky. Getting the right diagnosis can take time, but it’s worth it for managing your condition.

How the Ehlers-Danlos Syndrome (EDS) diagnosis is (typically) made

1. Recognising symptoms

EDS presents with a variety of symptoms that can range from joint hypermobility to skin that bruises easily or is hyper-elastic. Common symptoms can include:

• Hypermobility: Excessive joint movement, often leading to painful joints, dislocations or subluxations.
• Skin: Skin that is velvety, extra stretchy, tears with minimal impact, bruises easily, has stitches that come out or don’t hold well and can have poorly forming scars.
• Chronic Pain: Musculoskeletal pain, joint instability, and frequent injuries.
• Other Signs: Gastrointestinal issues, dizziness, heart valve, anxiety, and a tendency for scars to form poorly.

It’s common for people with HSD or hEDS to initially seek care for unrelated or overlapping conditions before recognising that their symptoms are part of a larger syndrome. It can be challenging to diagnose because many of these symptoms overlap with other conditions, and not everyone will exhibit every symptom.

2. Seeking medical attention

People often begin their diagnostic journey by seeing multiple healthcare providers due to the diverse nature of EDS symptoms. This typically involves visits to general practitioners, rheumatologists, or physiotherapists. In the case of gene identifiable Ehlers Danlos Syndromes, patients might be referred to genetics’ specialists, who are more familiar with the genetic and connective tissue aspects of the syndrome [2]

Since many of the EDS conditions are considered rare conditions, many people may need to see multiple doctors before a correct diagnosis is made. Hypermobile Ehlers Danlos Syndrome (hEDS) makes up 90% of all EDS patients and is now thought by researchers to be 10 times more common than believed even 5 years ago.

Challenges: As noted in studies the process often involves seeing multiple healthcare providers and may take years before a definitive diagnosis is made [4].

3. Family history and genetic testing

Many forms of EDS are genetically inherited, so a taking a thorough family history of similar symptoms is important. However, some forms of EDS may have no known genetic marker, or the mutation may not be detectable, especially in the hypermobile type (hEDS). This makes it harder for doctors to use genetic testing as a sole diagnostic tool. Therefore, much of the diagnosis for hEDS is clinical, relying on a detailed family history, symptom presentation, and physical examination.

For certain subtypes, genetic testing can provide clarity. All the other EDS subtypes have biomarkers or genetic testing that can be undertaken, for example:

• Classical EDS (cEDS) often involves mutations in the COL5A1 or COL5A2 genes.
• Vascular EDS (vEDS) involves mutations in the COL3A1 gene. However, genetic testing for hypermobile EDS (hEDS) is less definitive because it has no specific known genetic marker in all cases.
• Information on genetic markers associated with subtypes of EDS can be found in a table in our article that describes Ehlers Danlos Syndromes symptoms, related genes, proteins and signs.

Genetic Testing Challenges: The lack of a clear genetic marker in hEDS means that diagnosis is often made clinically (through physical exams and family history) rather than via genetic testing.

4. Physical examination and clinical criteria for Hypermobile EDS (hEDS)

One of the primary diagnostic tools for EDS is the Beighton Score, which is used to assess joint hypermobility. This score involves testing joint flexibility and assigning points for specific hypermobile movements, such as:

• Ability to bend the pinky backwards at the knuckle.
• Elbows and knees bending beyond normal range.
• Ability to touch the floor with palms flat.
• Ability to have the thumb touch the forearm on the palm surface

A Beighton Score of 4 or more out of 9 typically indicates hypermobility, which is a key feature of hEDS.

In addition to the Beighton Score, clinicians will assess other features that relate:

• Skin findings: Assessment of skin be it soft, velvety and doughy or hyper-elastic.
• Joint instability: Frequent or recurrent dislocations or subluxations, sprains and strains with now or in your past.
• Party Trick history: Capacity to contort your body or do the splits when you were younger
• Family history of similar conditions.
• Other symptoms such as gastrointestinal issues, early-onset osteoarthritis, and dental problems.

Clinical Guidelines: The 2017 Ehlers-Danlos International Classification and diagnostic criteria for hypermobile EDS provide a framework for clinicians to diagnose different forms of the disorder.

5. Exclusion of other conditions

Many of the symptoms of EDS overlap with other conditions, so doctors often need to rule out other potential causes for symptoms [3]. For example:

• Marfan Syndrome: A genetic disorder that affects connective tissue, it can cause similar issues with joint hypermobility, skin elasticity, and heart problems. A genetic test can help differentiate this from EDS.
• Loeys-Dietz Syndrome: Another connective tissue disorder, it can mimic the vascular type of EDS, particularly with problems involving blood vessels and joints. Genetic testing helps distinguish this condition.
• Osteogenesis Imperfecta: A genetic disorder that causes brittle bones, some forms of it share features with EDS, like joint hypermobility. However, OI typically leads to more frequent bone fractures, which is not characteristic of EDS.
• Rheumatoid Arthritis: This inflammatory condition can cause joint pain and hypermobility in some cases, but it’s not associated with the skin issues and other signs seen in EDS.
• Muscular Dystrophies: Some forms of muscular dystrophy can lead to joint instability or muscle weakness, so these need to be excluded with testing.
• Systemic Lupus Erythematosus (SLE): Lupus is an autoimmune condition that can cause joint pain and inflammation and may sometimes be confused with EDS. Blood tests can help rule it out.
• Other Genetic Connective Tissue Disorders: Conditions like Stickler Syndrome, or other collagen-related disorders, might present similarly to certain types of EDS, and can be excluded via genetic testing.

6. Assessing for co-occurring conditions is essential

It is crucial to determine if you have related co-occurring (comorbid) conditions. These might include:

• Dysautonomia or POTS (Postural Orthostatic Tachycardia Syndrome)
• Mast cell activation syndrome (MCAS)
• Irritable bowel Syndrome or gut related conditions
• Sleep issues
• Anxiety and or Depression

These other conditions are also commonly found in people with EDS, and these conditions can complicate the diagnostic process. Many patients with hEDS report an average of 10 or more co-diagnoses, which can complicate the diagnostic process [4].

7. Multidisciplinary approach for your ongoing management and care

After receiving a Ehlers-Danlos Syndrome diagnosis, treatment focuses on symptom management and improving quality of life, since there is currently no cure for the condition.

Because EDS is complex, unique to each person and affects multiple systems in the body (skin, joints, blood vessels, nerve, gut, bladder, etc.), management often require a multidisciplinary team [5]. Care needs to be holistic, proactive and preventative and comprehensive [6].

Potential EDS and Hypermobile specialists involved may in your care team include:

• General Practitioners (GPs) specialising in EDS for overall patient care and referral.
• Physiotherapists for personalised programs to assist with pain management and to strengthen muscles around joints and prevent injuries.
• Psychologists for strategies on living with chronic pain and assistance with ongoing health issues.
• Rheumatologists for joint hypermobility and pain.
• Cardiologists for vascular concerns (important in vascular EDS) or if dysautonomia and POTS symptoms are present.
• Gastroenterologists for managing issues related to your digestive system and gut.
• Exercise physiologists for assistance with designing personalised movement plans to help with pain, recovery, or overall health.
• Pain management specialists for chronic pain relief.
• Occupational therapists for assessing and helping understand how everyday activities can be more easily undertaken. This could be anything from getting dressed, cooking, schoolwork, or using a computer to moving around safely at home or work.
• Prolotherapy doctors are often GPs trained who do prolotherapy, which helps to stabilise joints with specialised injections.
• Rehabilitation physicians help with improving overall health in holistic ways especially in individuals with chronic illnesses. They can assist with referrals to other specialists, medication management, access to scans and focus on improving overall physical abilities, reducing pain and improving well-being and daily function.
• Speech therapists can assist with swallowing and eating difficulties as well as helping with voice and breathing control and TMJ pain.
• Geneticists for genetic testing. No ongoing care is provided by geneticists they provide Ehlers-Danlos Syndrome diagnosis only.
• General Physicians are not to be confused with GPs. They are specialists that help with improving overall health in holistic ways especially in individuals with chronic illnesses. They can assist with referrals to other specialists, medication management, access to scans and focus on improving overall physical abilities, reducing pain and improving well-being and daily function.

8. Clinical diagnosis and official confirmation

Once a clinician has reviewed the patient’s symptoms, family history, and physical exam findings (including the Beighton Score), they may make a clinical diagnosis of hEDS or another subtype of EDS. In cases where genetic testing is required, it can be used to support the diagnosis.

The process of diagnosing EDS – particularly hEDS – can be long and filled with challenges due to the overlap of symptoms with other conditions. As noted in the HMSA and Ehlers-Danlos Society resources, a thorough clinical assessment, family history, and physical exam are crucial, but there is a need for increased awareness and education in the medical community to shorten the diagnostic journey. Furthermore, recent studies also emphasise the importance of identifying co-diagnoses and understanding the unique ways in which EDS manifests across different patients [4].

For those seeking diagnosis, it’s important to consult with knowledgeable specialists, seek second opinions when necessary, and advocate for a comprehensive approach that considers all aspects of the condition.

For more information refer to our articles titled Understanding the Ehlers-Danlos Syndromes (EDS), their symptoms and causes, and Ehlers-Danlos Syndrome (EDS) care: Why you need a whole team, not just one doctor.

References

[1] Halverson, C., & Francomano, C. (2021). The long road to rare disease diagnosis: a hero’s journey. Molecular genetics and metabolism, 132, S297. https://doi.org/10.1016/S1096-7192(21)00542-4

[2] The Ehlers-Danlos Society. (n.d.). Diagnosis. The Ehlers-Danlos Society. https://www.ehlers-danlos.com/diagnosis/

[3] The Ehlers-Danlos Society. (2017). 2017 EDS international classification. The Ehlers-Danlos Society. https://www.ehlers-danlos.com/2017-eds-international-classification/

[4] Halverson, C. M. E., Cao, S., Perkins, S. M., & Francomano, C. A. (2023). Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome. Genetics in Medicine Open, 1(1), 100812. https://doi.org/10.1016/j.gimo.2023.100812

[5] Tinkle, B. T., & Levy, H. P. (2017). Ehlers-Danlos syndrome: Multidisciplinary approach to diagnosis and management. American Journal of Medical Genetics, 173(3), 791-798. https://doi.org/10.1002/ajmg.a.38145

[6] The Ehlers-Danlos Society. (n.d.). Why a multidisciplinary approach is necessary for EDS. Retrieved February 25, 2025, from https://www.ehlers-danlos.com/

[7] Trudgian, R., & Flood, T. (2024). An exploration of the journey to diagnosis of Ehlers-Danlos Syndrome (EDS) for women living in Australia: A pilot study. PLOS ONE, 19(2), e0307574. https://doi.org/10.1371/journal.pone.0307574