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

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. This article explains 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.

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:

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].

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)

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.

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.

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.

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].

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)

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

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.

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