Diagnosing hEDS
History and Current Status of Diagnosis
Hypermobile Ehlers-Danlos syndrome (hEDS) diagnosis has shifted from broader, less-specific criteria (e.g., Villefranche, Brighton) to the more stringent 2017 International Classification. Current diagnosis depends on clinical assessment, requiring generalized joint hypermobility, specific systemic and musculoskeletal features, and the exclusion of alternative conditions.
The 2017 criteria were developed by the International Consortium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders, a global group of doctors, researchers, and patient advocates. This consortium continues to guide updates to the diagnostic process.
There is no known molecular or biomarker test for hEDS.
Diagnostic Criteria
There is an official diagnostic sheet for hEDS based on the 2017 International Classification. It outlines three main criteria (Criteria A, B, and C) that must all be met for a diagnosis and a minimum number of points needed for a positive diagnosis.
A: Generalized joint hypermobility
B: At least two of the following three symptoms: manifestations of a generalized connective tissue disorder (e.g. soft, velvety skin, etc.); a first-degree relative with hEDS; or musculoskeletal complications (pain or joint instability)
C: Ruling out other forms of EDS and other diagnoses
Individuals with symptomatic joint hypermobility who do not meet all three diagnostic criteria for hEDS may instead receive a diagnosis of Hypermobility Spectrum Disorder (HSD).
Limitations of the 2017 Criteria
While the 2017 criteria are the current global standard, they have important limitations:
They are very strict, and many people with symptoms are instead labeled with HSD.
They focus mainly on joints and skin, while downplaying issues such as fatigue, digestive problems, and autonomic dysfunction.
In children, they are often hard to apply, since many hEDS features only appear after puberty.
Studies show that only a fraction of people diagnosed under older systems still qualify under the 2017 rules.
This helps explain why diagnosis is often delayed or inconsistent, and why many patients feel “in between” categories.
Pediatric Framework (2023)
Because children and teens are not just “small adults,” the International Consortium created a separate pediatric diagnostic framework in 2023. The characteristics are as follows.
Uses a higher Beighton score cutoff (6/9) to reflect that kids are naturally more flexible.
Looks at four areas: joint hypermobility, skin/tissue features, musculoskeletal problems, and common comorbidities.
Reserves a diagnosis of hEDS for biologically mature teens who meet the 2017 criteria. Younger children are classified as having pediatric GJH or HSD and are recommended for ongoing monitoring.
This framework is still new, but it gives families and doctors clearer guidance than the 2017 adult criteria, which were difficult to apply in children and often led to misdiagnosis or uncertainty.
Genetic Testing and the Role of Genetics Professionals
Unlike other types of Ehlers-Danlos syndrome, hypermobile EDS does not have a known genetic marker. This means that
No confirmatory test exists — there is currently no gene or biomarker that can establish a diagnosis of hEDS.
Genetic testing is still important — it is often used to rule out other forms of EDS (such as vascular, classical, or kyphoscoliotic types) and related connective tissue conditions that do have identifiable genes.
Why this matters — excluding these rarer forms is essential, since some carry serious complications (e.g., vascular EDS with arterial rupture risk) and require different monitoring and management.
Role of genetics professionals
Medical geneticists may evaluate patients to determine whether genetic testing is appropriate, interpret results, and confirm that other conditions are excluded.
Genetic counselors guide patients through the process, explaining what genetic testing can and cannot reveal, reviewing family history, and supporting decision-making about next steps.
While neither can confirm hEDS through testing, they play a crucial role in ensuring accurate diagnosis and avoiding dangerous misclassification.
Provider Roles in Diagnosis
Licensed medical doctors (MDs/DOs) — and their equivalents in other countries — can make the diagnosis if they are familiar with the 2017 diagnostic criteria.
Geneticists — evaluate patients when other forms of EDS or connective tissue disorders are suspected. They may order genetic tests to rule out conditions with known gene markers (e.g., vascular or classical EDS), but cannot confirm hEDS since no gene has been identified.
Genetic counselors — support patients by reviewing family history, explaining what testing can and cannot show, and guiding decision-making during the diagnostic process.
Primary care providers — often refer patients to specialists for confirmation, additional evaluation, or management.
Knowledge gaps — lack of familiarity with the 2017 criteria is common among healthcare professionals, leading to frequent misdiagnosis or dismissal.
Self-advocacy — due to limited provider familiarity, patient education and persistence are often critical in securing an accurate diagnosis.
Who Can Diagnose
Officially, the diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS) should be made by a licensed medical doctor (MD or DO) or an equivalent in countries with other healthcare systems (e.g. MBBS in the UK).
Following is a breakdown of what non-MD providers can and can't do in relation to hEDS.
Non-MD Providers Who May Recognize or Strongly Suspect hEDS
These providers cannot formally diagnose hEDS, but they may
Recognize the signs and symptoms
Perform a hypermobility assessment (like a Beighton score)
Refer a patient to a physician for full evaluation and diagnosis
Examples
Physical Therapists (PTs): Often see patterns of joint instability, chronic pain, or coordination issues and are sometimes the first to raise concern about hypermobility.
Occupational Therapists (OTs): May notice functional limitations, fine motor issues, or sensory symptoms consistent with hEDS.
Chiropractors (DCs): May recognize excessive joint laxity or instability but cannot make a formal diagnosis.
Naturopathic Doctors (NDs): In some regions, NDs have diagnostic rights, but hEDS is generally expected to be diagnosed by an MD/DO. Their recognition may help guide further referrals.
Nurse Practitioners (NPs) and Physician Assistants (PAs): In many places, NPs and PAs can diagnose and manage conditions under supervision or within their scope of practice, depending on state or national laws. However, due to the complexity of hEDS and the need to exclude other conditions, most still refer to specialists for confirmation.
Gender Trends in Diagnosis
80–90% of diagnosed hEDS patients are female.
Estrogen may influence connective tissue laxity, potentially intensifying symptoms in females.
Men are likely underdiagnosed, possibly due to differences in symptom presentation or cultural factors that discourage medical help-seeking.
Disparities in hEDS Diagnosis
The diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS) relies entirely on clinical criteria, making it vulnerable to disparities based on sex, race, and access to care. Many individuals go undiagnosed for years, often misattributed to anxiety, somatization, or unrelated conditions. Key barriers include:
Sex and gender bias: hEDS is more often diagnosed in females, while symptoms in males may be overlooked or dismissed.
Racial and ethnic bias: The Beighton score does not account for normal variations in joint mobility across populations, contributing to underdiagnosis in non-White individuals.
Socioeconomic and geographic barriers: Limited access to specialists, insurance, or coordinated care often delays diagnosis—especially in rural or underserved areas.
Age-related misattribution: Children may be labeled as clumsy or anxious, while adults are often told their symptoms stem from stress or deconditioning.
Provider knowledge gaps: Many clinicians are unfamiliar with the multisystemic nature of hEDS and may treat symptoms in isolation.
Reducing these disparities will require more inclusive diagnostic tools, broader education, and greater awareness of hEDS across diverse populations.
Developments in Diagnostic Methods
Pediatric-specific criteria are being developed by international working groups.
Research is underway to identify genetic and molecular markers.
Future revisions are expected to include more symptoms beyond joints and skin, such as fatigue, digestive issues, and autonomic problems.
Genetic testing is being studied not as a way to prove hEDS, but to better rule out related conditions.
Biomarker research is ongoing. Early studies show that fragments of connective tissue proteins in the blood may eventually help provide an objective test, though this is not yet available.
Genetic and Biomarker Research
A major international project called the HEDGE study (Hypermobile Ehlers-Danlos Genetic Evaluation) is using advanced genetic sequencing to search for DNA changes linked to hEDS. So far, researchers believe the condition may involve several genes and pathways rather than a single “hEDS gene.”
Large genetic panels are already helping doctors rule out other connective tissue disorders that look similar to hEDS.
Studies of skin cells from people with hEDS and HSD show shared patterns of connective tissue changes and inflammation, supporting the idea that these conditions are part of the same spectrum.
In 2025, researchers identified a distinctive pattern of connective tissue fragments (fibronectin and type I collagen) in the blood of people with hEDS and HSD. This may someday become the first objective blood test for hEDS, though it is still experimental and far from everyday use.
Hypermobility and hEDS: A Spectrum
Historically, generalized joint hypermobility was seen as a separate condition from hEDS. In 2017, diagnostic criteria were revised: individuals with symptomatic hypermobility who do not meet all the required criteria for hEDS are now classified under Hypermobility Spectrum Disorder (HSD). In practical terms, HSD and hEDS look almost identical—patients experience chronic pain, fatigue, gastrointestinal issues, autonomic dysfunction, and more. Many experts now view HSD and hEDS as points on a shared clinical spectrum, with labels reflecting diagnostic thresholds rather than truly distinct conditions.
Challenges in Obtaining a Diagnosis
Average diagnostic delay is 10–12 years.
Symptoms are often dismissed or misattributed (e.g., to anxiety or somatization, especially in women).
Most diagnoses are made during adolescence or adulthood, often after a medical crisis or self-advocacy.
Impact of Diagnosis Timing
Earlier diagnosis and treatment often occurs in those with more severe or multisystem involvement.
Delayed diagnosis is associated with greater impairment, lower quality of life, and worse healthcare experiences.
Women and girls may face longer diagnostic journeys due to gender-based medical bias.
Average Age at Diagnosis
The average age at diagnosis for hEDS falls between 20 and 30 years old. However, many individuals begin experiencing symptoms in childhood and go undiagnosed for a decade or more. Early symptom recognition and provider education are critical for improving patient outcomes.
Estimated Age Distribution at Diagnosis
The bar chart below represents a hypothetical distribution of hEDS diagnoses by age group, based on available literature and clinical observation.
Diagnoses begin to rise in adolescence and peak in the early 20s.
A significant number of people are diagnosed in their 30s and 40s, often after years of misdiagnosis.
The Future of hEDS Diagnosis
The International Consortium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders, which created the 2017 criteria, is leading the process of revising them with input from researchers, clinicians, and patient advocates worldwide.
New criteria are being developed, but as of 2025 there is no set timeline for release.
Barriers include the lack of a genetic marker, differences among clinicians, and the complexity of reaching global consensus.
Until new criteria are published, the 2017 rules (with the pediatric framework for children) remain the international standard.
Summary
Hypermobile Ehlers-Danlos syndrome (hEDS) is typically diagnosed in adolescence or early adulthood, with most patients being women. The average age at diagnosis is between 20 and 30 years, though many report symptoms for a decade or more before receiving a diagnosis. Recent research suggests hEDS and symptomatic joint hypermobility (classified as Hypermobility Spectrum Disorder, or HSD) are not truly distinct, as their symptom profiles—pain, fatigue, GI issues, autonomic symptoms—overlap almost completely. Diagnosis remains challenging due to lack of biomarkers, limited provider awareness, and gender-based diagnostic bias. Genetic testing may be part of the diagnostic process, but only to rule out other types of EDS or connective tissue disorders—since no gene for hEDS has yet been identified. Geneticists and genetic counselors support this process.
Large international studies, such as the HEDGE project, are searching for genes and biomarkers that might someday allow an objective test, but for now diagnosis remains entirely clinical. New research and international collaborations are actively working toward improved, more inclusive criteria. Until then, current standards should be applied with careful clinical judgment, especially in children.
