Ehlers-Danlos syndromes and hypermobility in adults

The Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders. Connective tissue, which includes collagen, supports and holds together the skin, joints, blood vessels and organs. Hypermobile EDS (hEDS), the most common type, is diagnosed clinically, because no gene has yet been identified for it. People who have symptomatic joint hypermobility but do not meet the hEDS criteria may be diagnosed with a hypermobility spectrum disorder (HSD).

EDS, hEDS and hypermobility spectrum disorders: the terms

The Ehlers-Danlos syndromes. The 2017 International Classification of the Ehlers-Danlos syndromes describes 13 types. A 14th type, classical-like EDS type 2, has been described since. Most have a known genetic cause; hypermobile EDS is the exception.
Hypermobile EDS. Generalized joint hypermobility together with other features set out in the 2017 criteria. Older terms, such as "EDS type III", "joint hypermobility syndrome" and "benign joint hypermobility syndrome", are no longer used.
Hypermobility spectrum disorders. A term introduced in the same 2017 framework for people whose joint hypermobility causes symptoms but who meet neither the hEDS criteria nor those of another specific condition. HSD can involve many joints (generalized), mainly the hands and feet (peripheral), a single area (localized), or hypermobility that was present earlier in life (historical).
Joint hypermobility on its own. Joint hypermobility means a joint moves beyond the usual range. It is common, it may cause no symptoms at all, and on its own it is not a disorder.

How hEDS is diagnosed

The 2017 criteria in brief

A diagnosis of hEDS requires all three of the following:

Generalized joint hypermobility. A clinician assesses this with the Beighton score, a nine-point examination of specific joint movements. The cutoff depends on age and is lower after age 50, because joints tend to become less flexible over time. When the score falls just below the cutoff, a short five-part questionnaire about past flexibility is used as well.
At least two of three features: signs elsewhere in the body, such as in the skin, that suggest a broader connective tissue disorder; a parent, sibling or child who independently meets the criteria; and musculoskeletal complications, such as long-standing pain or recurrent dislocations without injury.
Exclusion of other explanations, including unusual skin fragility, other types of EDS, other heritable connective tissue disorders and autoimmune rheumatologic conditions.

Who makes the diagnosis

A clinician makes the diagnosis through a medical history, a physical examination and a family history, and by ruling out other conditions. It often takes more than one visit. The Ehlers-Danlos Society publishes the official hEDS diagnostic checklist. It can be a useful reference to bring to an appointment, but it is not a self-test: several items require an examination, and ruling out other conditions requires a clinician's assessment.

When the criteria aren't met

Not meeting the hEDS criteria does not mean symptoms aren't real. HSD is a recognized diagnosis, and its symptoms can be just as significant. According to the Ehlers-Danlos Society, the principles of management are currently the same for HSD and hEDS. A diagnosis can also change over time, as new features appear or as research changes the criteria.

Conditions that often come with hEDS and HSD

The conditions below have been reported in people with hEDS and HSD. Not everyone has them, and the strength of the evidence varies.

Orthostatic intolerance and POTS

Orthostatic intolerance describes symptoms, such as dizziness, lightheadedness or a racing heart, that come on when standing up and ease when lying down. Postural orthostatic tachycardia syndrome (POTS) is one form, in which the heart rate rises more than expected on standing, as measured by a clinician. Problems with the body's automatic control of heart rate and blood pressure have been described in hEDS.

Gastrointestinal symptoms

Reflux, bloating, abdominal pain, constipation and other functional gastrointestinal symptoms, meaning symptoms that occur without a structural cause on standard tests, are reported more often in people with EDS.

Pain

Joint pain, subluxations (partial dislocations) and dislocations are common features. Many adults also describe chronic, widespread pain. Joint flexibility often lessens with age, while pain and fatigue may become more prominent in adulthood.

Fatigue

Chronic fatigue is frequently reported in hEDS and can limit daily activities.

Others reported

Anxiety disorders, and pelvic and bladder symptoms, are also among the reported associations.

When genetic testing is useful, and when it isn't

No genetic test confirms hEDS

No genetic test can confirm hEDS today, because no gene has been identified for it. A negative result on a connective tissue gene panel does not rule hEDS in or out; the panel isn't designed to diagnose it. What testing can do is look for other conditions.

When testing can matter

Genetic testing is considered when features suggest another type of EDS or another heritable connective tissue disorder, such as Marfan syndrome or Loeys-Dietz syndrome. Features a clinician weighs include very fragile skin or unusual scarring; a rupture of an artery, the intestine or the uterus in the person or a relative; enlargement of the aorta; and features of other syndromes. In those situations a specific diagnosis can change care. Vascular EDS is the clearest example: a confirmed diagnosis guides how the arteries are monitored over time.

What results can look like

A result may be positive, negative or uncertain. An uncertain result, called a variant of uncertain significance, is a genetic difference whose meaning is not yet known. Its classification can change as research grows, so uncertain results are revisited over time.

Consumer genetic tests

Consumer genetic tests are not designed to diagnose EDS.

Cost and legal protections

Coverage of genetic tests varies by test, by the laboratory that performs it, and by your plan and deductible. The Genetic Information Nondiscrimination Act (GINA) protects against discrimination in health insurance and employment. It does not cover life, disability, or long-term care insurance. Colorado law adds protection for long-term care and group disability insurance: those insurers may not use genetic test results for underwriting. Life and individual disability insurers are not barred from using results, but they may not require a genetic test without your written consent.

Why ongoing, coordinated primary care matters

hEDS and HSD can involve several organ systems, and adults often see several specialists and therapists. A review in American Family Physician notes that primary care physicians play a key role in recognition, diagnosis and patient education, and that, through an ongoing relationship, they can help oversee and coordinate the multidisciplinary team many patients require.

In practice, that role means one physician keeping one plan and one medication list, bringing specialists' recommendations together, and revisiting the diagnosis as the criteria and the evidence change. It is the role genetics-informed primary care is built around.

Preparing for an appointment about hypermobility

It helps to bring:

your current medications and supplements, with doses
your family history: who in the family is very flexible or has a hypermobility diagnosis, and anyone who has had an aneurysm, an arterial rupture or a heart event at a young age
any prior genetic test reports
a short timeline of your symptoms
the names of your current specialists

The full list is on the For Patients page. Please do not send medical records by email.

How OriginalMD approaches EDS and hypermobility

OriginalMD provides genetics-informed primary care for adults, with particular depth in Ehlers-Danlos syndrome, rare and inherited conditions. Patrick Long, MD, is board-certified in family medicine and trained in medical genetics, and his clinical experience includes Ehlers-Danlos syndrome and connective tissue disorders. Patients can start with Primary Care Membership, an Initial Consultation or Genetic Counseling. Visits are in person in Denver, or by telehealth for patients located in Colorado. OriginalMD does not bill insurance; every patient is self-pay. Current fees are listed in the Services section, and you have the right to a written Good Faith Estimate of expected charges before care begins.

Trusted resources

The Ehlers-Danlos Society: What is EDS? and What is HSD?
GeneReviews: Hypermobile Ehlers-Danlos Syndrome
MedlinePlus Genetics: Ehlers-Danlos syndrome
National Institute of Neurological Disorders and Stroke: Postural Tachycardia Syndrome (POTS)
Dysautonomia International

Common questions

Is there a genetic test for hypermobile EDS? Not today. No gene has been identified for hypermobile EDS, so it is diagnosed clinically using the 2017 criteria. Genetic testing is used when features suggest another type of EDS or another heritable connective tissue disorder.

What is the difference between hEDS and HSD? Both involve joint hypermobility that causes symptoms. hEDS is diagnosed when all three of the 2017 criteria are met. HSD describes symptomatic joint hypermobility that meets neither the hEDS criteria nor those of another condition.

Do I need a referral or a diagnosis to become a patient? No. Neither a referral nor a prior diagnosis is required. Anyone may contact the practice directly.

Who does the practice care for? Adults, from early adulthood through late life. Pediatric care is not offered.

Do you bill insurance? Does membership replace insurance? No. OriginalMD is a self-pay practice; it does not bill health insurance, Medicare, Medicaid, or any other third-party payor. Membership does not replace health insurance.

How to start

To request a visit, email info@originalmd.com or call (720) 575-0267. Before scheduling, we confirm a few eligibility questions by email or phone.

Clinicians: see For Providers for referral details.

This article is for general education and is not medical advice. Talk with your own clinician about your situation.

Sources

Reviewed by Patrick Long, MD, on October 30, 2026.