Getting an EDS Diagnosis: Criteria, Testing, and What to Expect

Ehlers-Danlos syndrome (EDS) is diagnosed using the 2017 International Classification of the Ehlers-Danlos Syndromes: hypermobile EDS (hEDS) requires all three clinical criteria, starting with an age-adjusted Beighton score of 5 or more out of 9 for adults up to age 50, while the other 12 subtypes are confirmed with genetic testing. According to Malfait and colleagues (2017), hEDS is the only subtype without a known gene, so its diagnosis rests on a physical examination, a medical and family history, and the exclusion of other connective tissue disorders.

For many people with Ehlers-Danlos syndrome, the path to diagnosis is frustratingly long. Research suggests that the average patient with EDS waits 10 to 12 years from the onset of symptoms to receiving a correct diagnosis [1]. During that time, symptoms are often dismissed, misdiagnosed, or attributed to anxiety and stress.

If you suspect you have EDS, or a doctor has mentioned hypermobility as a possible explanation for your symptoms, understanding the diagnostic process can help you advocate for yourself and navigate the medical system more effectively. The sections below cover the different types of EDS, the 2017 diagnostic criteria, the role of genetic testing, and practical guidance on where and how to get evaluated.

What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome is a group of inherited connective tissue disorders characterized by problems with collagen and other structural proteins. Since connective tissue is found throughout the entire body, EDS can affect the skin, joints, blood vessels, organs, and virtually every system [2].

There are currently 13 recognized subtypes of EDS, each caused by different genetic mutations affecting different aspects of connective tissue structure and function. The three most commonly encountered in clinical practice are:

Hypermobile EDS (hEDS)

This is by far the most common subtype, though exact prevalence is debated. Estimates range from 1 in 500 to 1 in 5,000 people [3]. hEDS is characterized by generalized joint hypermobility, chronic pain, frequent joint dislocations or subluxations, skin that is softer and somewhat more stretchy than normal, and a range of associated problems including fatigue, gastrointestinal dysfunction, and dysautonomia.

Importantly, hEDS is the only subtype that does not yet have a known genetic cause. It is diagnosed based on clinical criteria rather than genetic testing.

Classical EDS (cEDS)

Classical EDS is characterized by very stretchy, fragile skin that bruises easily and heals with distinctive “cigarette paper” or atrophic scars. Joint hypermobility is also present. It is caused by mutations in the COL5A1, COL5A2, or rarely COL1A1 genes and follows an autosomal dominant inheritance pattern [4].

Vascular EDS (vEDS)

Vascular EDS is the most medically serious subtype. It is caused by mutations in the COL3A1 gene, which affects type III collagen found in blood vessel walls and hollow organs. People with vEDS are at risk for arterial rupture, organ perforation, and other life-threatening complications. The skin is typically thin and translucent rather than stretchy, and joint hypermobility is usually limited to the small joints of the hands [5].

Identifying vascular EDS is particularly important because it changes medical management significantly, including surgical decisions and pregnancy planning.

How Each Common EDS Type Is Confirmed

The table below summarizes the genes and the confirming test for the subtypes described above, based on the 2017 international classification by Malfait et al. and the vascular EDS review by Byers et al. (2017).

How Is EDS Diagnosed? The Process Step by Step

An EDS diagnosis is a clinical process that combines a physical examination, a detailed history and, for most subtypes, a genetic test. The evaluation usually follows the same order, whether it happens in a genetics clinic, a rheumatology office or a dedicated EDS center.

1. Medical history: the clinician asks about joint dislocations, subluxations, chronic pain, bruising, scarring, hernias, fatigue, dizziness and digestive symptoms, and when each began.
2. Family history: relatives with hypermobility, early aneurysms, arterial rupture or a known EDS diagnosis change which subtypes are considered and which tests are ordered.
3. Beighton score: a nine point bedside test of joint hypermobility, scored against the age thresholds in the 2017 criteria.
4. Skin and body exam: the clinician checks skin texture and stretch, scars, stretch marks, piezogenic papules, palate shape, arm span and finger length.
5. Heart imaging when indicated: an echocardiogram checks for mitral valve prolapse and aortic root dilatation, both listed in Feature A of the hEDS criteria.
6. Genetic testing: a blood or saliva sample is sequenced to confirm or rule out the subtypes that have known genes.
7. Exclusion of other diagnoses: conditions such as Marfan syndrome, Loeys-Dietz syndrome and autoimmune disease are ruled out before hEDS is confirmed.
8. Screening for associated conditions: many clinicians also screen for POTS, mast cell activation syndrome and gastrointestinal dysmotility.

Our guide to the symptoms that lead people to seek an EDS evaluation explains which complaints tend to prompt the referral in the first place.

The 2017 Diagnostic Criteria for hEDS

In 2017, the International EDS Consortium published updated diagnostic criteria for hypermobile EDS, replacing the older Villefranche criteria from 1998. These new criteria are more specific and are designed to reduce misdiagnosis while still identifying people who genuinely have the condition [6].

The 2017 criteria require ALL THREE of the following:

EDS Diagnostic Criteria at a Glance

Criterion 1: Generalized Joint Hypermobility (Beighton Score)

The Beighton score is a standardized assessment of joint hypermobility that tests nine points across the body:

• Passive dorsiflexion of each pinky finger beyond 90 degrees (1 point each, 2 total)
• Passive flexion of each thumb to the forearm (1 point each, 2 total)
• Hyperextension of each elbow beyond 10 degrees (1 point each, 2 total)
• Hyperextension of each knee beyond 10 degrees (1 point each, 2 total)
• Ability to place palms flat on the floor with knees straight (1 point)

The maximum score is 9. For the 2017 hEDS criteria, the threshold varies by age:

• Pre-pubertal children and adolescents: 6 or higher
• Pubertal men and women up to age 50: 5 or higher
• Men and women over age 50: 4 or higher

An important note: hypermobility can decrease with age, previous injuries, and surgical procedures. If you were clearly hypermobile in the past but have stiffened up, a historical score (the “five-point questionnaire”) may be used to meet this criterion [6].

The five-point questionnaire (5PQ), developed by Hakim and Grahame, asks whether you can now or could ever place your palms flat on the floor with straight knees, bend your thumb to touch your forearm, contort your body or do the splits as a child, whether a shoulder or kneecap dislocated more than once in childhood or adolescence, and whether you consider yourself double jointed. In the 2017 checklist, two or more positive answers can support Criterion 1 when the Beighton score falls one point below the age threshold.

Criterion 2: Two or More of the Following Features (A, B, or C)

Feature A: Five or more of the following systemic manifestations of a generalized connective tissue disorder:

• Unusually soft or velvety skin
• Mild skin hyperextensibility
• Unexplained striae (stretch marks) in adolescence or young adulthood without significant weight change
• Bilateral piezogenic papules of the heel (small herniations of fat that appear when standing)
• Recurrent or multiple abdominal hernias
• Atrophic scarring (wide, thin scars) at two or more sites without other causes
• Pelvic floor, rectal, or uterine prolapse without other predisposing factors
• Dental crowding and high or narrow palate
• Arachnodactyly (long, slender fingers), confirmed by positive wrist sign or thumb sign
• Arm span to height ratio of 1.05 or greater
• Mitral valve prolapse on echocardiogram
• Aortic root dilatation (with Z-score greater than +2)

Feature B: Positive family history, with one or more first-degree relatives independently meeting the 2017 hEDS criteria.

Feature C: Musculoskeletal complications, requiring at least one of:

• Daily musculoskeletal pain in two or more limbs for at least 3 months
• Chronic widespread pain for at least 3 months
• Recurrent joint dislocations or frank joint instability (without trauma)

Criterion 3: All of the Following Prerequisites Must Be Met

• Absence of unusual skin fragility (which would suggest other EDS types)
• Exclusion of other heritable and acquired connective tissue disorders (including autoimmune conditions like lupus or rheumatoid arthritis)
• Exclusion of alternative diagnoses that can also include joint hypermobility (such as Marfan syndrome, Loeys-Dietz syndrome, or other EDS subtypes)

Criterion 3 is why an hEDS evaluation often includes blood work for rheumatoid arthritis and other autoimmune conditions. Widespread pain alone does not separate hEDS from fibromyalgia, so the clinician weighs the hypermobility findings and the systemic signs together.

How Strict Are the 2017 hEDS Criteria?

The 2017 hEDS criteria are stricter than the 1998 Villefranche criteria, by design. The International Consortium on the Ehlers-Danlos Syndromes and Related Disorders tightened them so that research cohorts would be more uniform and a future hEDS gene would be easier to find, as the consortium papers published by Malfait et al. (2017) explain. The consequence is that some people who received an hEDS diagnosis before 2017 would now be classified as having hypermobility spectrum disorder.

Genetic Testing: When and Why

Genetic testing plays different roles depending on the suspected EDS subtype.

For hEDS

There is currently no genetic test for hEDS. Despite significant research efforts, the specific gene or genes responsible have not been identified. Diagnosis is made entirely through clinical evaluation using the 2017 criteria described above [6].

However, genetic testing may still be recommended for people suspected of having hEDS, not to confirm hEDS but to rule out other EDS subtypes and connective tissue disorders that do have identifiable genetic causes. This is especially important if there are features suggestive of vascular EDS or classical EDS.

For Other EDS Subtypes

Genetic testing can confirm 12 of the 13 EDS subtypes. Panel testing that covers all known EDS-related genes is available and can identify mutations in genes including COL5A1, COL5A2, COL3A1, COL1A1, COL1A2, TNXB, and others [7].

If your presentation suggests a specific subtype, targeted testing for that subtype’s associated genes may be done first. If the clinical picture is unclear, a broader connective tissue disorder panel may be more appropriate.

What Genetic Testing Involves

The test itself is straightforward: it requires a blood sample or sometimes a saliva sample. The sample is sent to a specialized laboratory for sequencing. Results typically take 4 to 8 weeks. Cost varies significantly but is often covered by insurance when ordered by a geneticist with appropriate clinical indication.

A genetic counselor can help you understand what the results mean, including the significance of variants of uncertain significance (VUS), which are genetic changes that may or may not be disease-causing.

Which Tests Are Used to Diagnose EDS?

EDS testing combines bedside assessments, imaging and laboratory work, and each test answers a different question. No single test diagnoses every type of Ehlers-Danlos syndrome.

If dizziness on standing is part of your picture, our article on how POTS is diagnosed covers the tilt table and stand tests in more detail.

Hypermobility Spectrum Disorder: When It Is Not Quite hEDS

Not everyone with symptomatic joint hypermobility meets the full 2017 criteria for hEDS. The diagnosis of hypermobility spectrum disorder (HSD) was created to capture these patients [8].

HSD is not a lesser diagnosis. People with HSD can experience the same types and severity of symptoms as those with hEDS: chronic pain, frequent subluxations, fatigue, and associated conditions like POTS and GI dysfunction. The treatment approach is essentially the same.

HSD is categorized as:

• Generalized HSD (G-HSD): generalized joint hypermobility (meets Beighton score threshold) plus musculoskeletal symptoms, but does not meet all hEDS criteria
• Peripheral HSD: hypermobility limited to hands and feet
• Localized HSD: hypermobility at a single joint or group of joints
• Historical HSD: historical evidence of hypermobility that is no longer present on examination

The distinction between hEDS and G-HSD is clinically relevant mainly for research purposes. From a practical standpoint, the management strategies overlap significantly.

The HSD framework comes from Castori and colleagues (2017), who replaced the older term joint hypermobility syndrome (JHS). A person who was told years ago that they have JHS or benign joint hypermobility syndrome would usually fall under HSD or hEDS today, depending on how many of the 2017 criteria they meet.

Associated Conditions to Be Aware Of

EDS and HSD commonly co-occur with several other conditions that should be screened for during the diagnostic process:

• Postural orthostatic tachycardia syndrome (POTS): found in up to 50% of hEDS patients [9]
• Mast cell activation syndrome (MCAS): an emerging association, though prevalence data is still limited [10]
• Gastrointestinal dysmotility: including gastroparesis, irritable bowel syndrome, and gastroesophageal reflux
• Chronic fatigue: present in the majority of hEDS patients
• Anxiety and depression: which may be both a consequence of chronic illness and related to autonomic dysfunction [11]
• Temporomandibular joint (TMJ) dysfunction
• Chiari malformation and craniocervical instability (in a subset of patients)

Recognizing these associations helps ensure that the full picture of a patient’s health is addressed, not just the joint symptoms.

Each of these conditions has its own diagnostic path. The overlap between hEDS, POTS and MCAS is common enough to have its own name, covered in our piece on the MCAS, POTS and EDS triad, and our MCAS diagnosis guide explains the tryptase and urine tests involved. Jaw pain and clicking point toward temporomandibular joint disorder, digestive symptoms often overlap with irritable bowel syndrome, and persistent exhaustion can resemble chronic fatigue syndrome.

Where to Get Evaluated

Getting an EDS diagnosis often requires seeing the right specialist. Here is a practical guide:

Medical Geneticists

For suspected classical, vascular, or rarer EDS subtypes, a medical geneticist is often the most appropriate specialist. They can perform a thorough clinical evaluation, order and interpret genetic testing, and provide genetic counseling for family planning considerations.

Rheumatologists

Some rheumatologists are knowledgeable about EDS and hypermobility disorders. However, because EDS is not an autoimmune condition, it falls outside the typical focus of many rheumatology practices. If you see a rheumatologist, try to find one who specifically lists connective tissue disorders or hypermobility in their areas of interest.

Specialized EDS Clinics

Several academic medical centers have established clinics specifically for EDS and hypermobility disorders. These clinics often offer multidisciplinary evaluation, with genetics, cardiology, physical therapy, and other specialties available in a coordinated setting. The Ehlers-Danlos Society maintains a directory of healthcare professionals with expertise in EDS [12].

Primary Care and Physical Therapy

A primary care physician is usually the first stop and the source of the referral. Many primary care doctors can perform a Beighton score and order an echocardiogram and autoimmune blood work, which gives the specialist a head start. Physical therapists and physiatrists (physical medicine and rehabilitation doctors) often notice hypermobility first and can document joint instability for the referral letter.

What to Bring to Your Appointment

Preparation can make a significant difference in the quality of your evaluation:

• A written summary of your symptoms, when they started, and how they have progressed
• Documentation of any joint dislocations or subluxations
• Family history information, especially any relatives with hypermobility, chronic pain, easy bruising, or connective tissue problems
• Previous imaging results and lab work
• A list of all providers you have seen and diagnoses you have received
• Photos of any relevant skin findings (scarring, stretch marks, skin extensibility)

What Happens After an EDS Diagnosis?

An EDS diagnosis leads to a management plan rather than a single treatment. No therapy changes the underlying collagen, so care focuses on joint stability, pain, autonomic symptoms and monitoring. Physical therapy that builds muscle strength around unstable joints is the foundation for most people with hEDS and HSD, according to the 2017 consortium papers.

People with vascular EDS usually have regular arterial imaging and a plan for emergencies, as Byers et al. (2017) describe. People with hEDS and HSD often work with a pain specialist, and our overview of chronic pain treatment options and the chronic pain condition page describe the approaches commonly used. If POTS is part of the picture, the POTS treatment guide and our article on how EDS and POTS interact cover the next steps, and our EDS treatment overview brings the options together.

Some people with EDS also explore cash pay regenerative injections for a specific painful joint or jaw. Evidence for platelet-rich plasma (PRP) injections and prolotherapy in hypermobile joints is limited, these uses are off label, and they do not change an EDS diagnosis. If you are weighing them, clinics that offer PRP and providers of TMJ treatment are listed in the Regenerated.com directory alongside the TMJ treatment guide. The directory is free for patients, listing order is not paid ranking, Featured slots are labeled and capped, and Verified means credential checks rather than spend, as our guide to Featured, Verified and organic listings explains. Inclusion in the directory is not an endorsement, so tell any provider about your EDS diagnosis before a procedure.

The Emotional Side of Diagnosis

Receiving an EDS diagnosis brings a complex mix of emotions. Many people feel validation after years of being told nothing is wrong, relief at finally having a name for their experience, and sometimes grief about the chronic nature of the condition.

It is normal to feel all of these things. Connecting with support communities, such as the Ehlers-Danlos Society’s support groups or online communities, can provide both practical information and emotional support [13].

It is also worth noting that a diagnosis is a beginning, not an ending. It opens the door to targeted treatment, appropriate accommodations, and a framework for understanding your body’s needs.

When to See a Doctor

Seek evaluation for possible EDS if you experience:

• Joint hypermobility combined with chronic pain or frequent joint dislocations/subluxations
• Skin that is unusually soft, stretchy, or bruises very easily
• Poor wound healing with wide, atrophic scars
• A family history of EDS or symptoms suggestive of a connective tissue disorder
• Multiple seemingly unrelated symptoms (joint pain, fatigue, GI problems, dizziness on standing) that are not explained by other diagnoses

Seek urgent care if you experience:

• Sudden, severe chest or abdominal pain (especially with a known or suspected vascular EDS diagnosis)
• A joint dislocation you cannot reduce yourself
• Signs of vascular emergency: sudden severe headache, vision changes, or unexplained internal pain

Frequently asked questions

What are the diagnostic criteria for EDS?

The diagnostic criteria for EDS come from the 2017 International Classification, which defines 13 subtypes. Hypermobile EDS requires all three clinical criteria: generalized joint hypermobility on an age-adjusted Beighton score, at least two of Features A, B and C, and the exclusion of other conditions. The other 12 subtypes each have major and minor clinical criteria, and the diagnosis is confirmed by finding a disease-causing variant on genetic testing.

Is there a test for Ehlers-Danlos syndrome?

Genetic testing on a blood or saliva sample confirms 12 of the 13 EDS subtypes, including classical EDS and vascular EDS. There is no genetic test or blood test for hypermobile EDS, the most common type, because its gene has not been found. hEDS is diagnosed by a clinician who examines you, scores your joint hypermobility with the Beighton score and works through the 2017 hEDS criteria.

What Beighton score do you need for an hEDS diagnosis?

The Beighton score needed for hEDS depends on age. The 2017 criteria set the threshold at 6 or more out of 9 for children and adolescents before puberty, 5 or more from puberty up to age 50, and 4 or more after age 50. When the score falls one point short, two or more positive answers on the five-point questionnaire can support generalized joint hypermobility.

Which doctor diagnoses EDS?

A medical geneticist is the specialist most often involved in an EDS diagnosis, because geneticists order and interpret the genetic panels that confirm most subtypes. Rheumatologists with an interest in hypermobility, multidisciplinary EDS clinics at academic medical centers and genetic counselors also diagnose and support patients. A primary care physician usually starts the process with a Beighton score, basic blood work and a referral.

What is the difference between hEDS and hypermobility spectrum disorder?

Hypermobile EDS and hypermobility spectrum disorder differ in how many of the 2017 criteria a person meets, not in how severe their symptoms are. A person who has symptomatic joint hypermobility but does not meet every hEDS criterion is diagnosed with HSD. According to Castori et al. (2017), people with HSD can have the same pain, subluxations and fatigue, and management overlaps closely with hEDS.

How long does it take to get diagnosed with EDS?

Getting diagnosed with EDS has historically taken about 10 to 12 years from the first symptoms, according to research cited by Tinkle et al. (2017). Once you reach the right specialist, the evaluation itself is much shorter: the examination happens at the visit, and genetic test results typically return in 4 to 8 weeks. Arriving with organized symptom notes and family history helps the appointment move faster.

The Bottom Line

Getting an EDS diagnosis can be a long and sometimes frustrating process, but it is worth pursuing. An accurate diagnosis provides a framework for appropriate treatment, helps identify associated conditions that need monitoring, informs decisions about physical activity and lifestyle, and gives you language to communicate with healthcare providers.

If you suspect you have EDS, start by familiarizing yourself with the 2017 diagnostic criteria and the Beighton score assessment. Seek out a provider with specific expertise in connective tissue disorders. Bring organized documentation to your appointments. And remember that whether you receive a diagnosis of hEDS or hypermobility spectrum disorder, effective management strategies exist, and understanding your condition is the first step toward better quality of life.

In short, EDS is diagnosed with the 2017 international criteria: a clinical exam and Beighton score for hypermobile EDS, and genetic testing for the other 12 subtypes. For a wider view of the condition, read our complete guide to Ehlers-Danlos syndrome.

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