Short answer · Medically reviewed summary · Last updated: 2026-04-06

Ehlers-Danlos syndromes (EDS) are primarily diagnosed through a comprehensive clinical evaluation conducted by a specialist who compares a patient's physical symptoms against the 2017 International Classification diagnostic criteria. I understand the profound frustration that comes with the "diagnostic odyssey." Many individuals living with Ehlers-Danlos spend years visiting various practitioners before receiving an accurate name for their symptoms, often being told their pain or joint issues are "all in their head." Please know that your experience is valid, and the complexity of these connective tissue disorders often leads to delayed recognition in general clinical settings. The Diagnostic Process The diagnostic journey for Ehlers-Danlos typically involves a detailed review of personal and family medical history. A specialist—usually a clinical geneticist or a rheumatologist with specific expertise in connective tissue disorders—will perform a systemic physical examination to assess skin hyperextensibility, joint hypermobility (using the Beighton Score), and signs of tissue fragility.

27 people with Ehlers Danlos have shared their first-person experience on this question at DiseaseMaps.

How is Ehlers Danlos diagnosed?

Name: How is Ehlers Danlos diagnosed?
Creator: DiseaseMaps Editorial Team
Published: 2015-06-12UTC13:59:26.0000000

How Ehlers Danlos is diagnosed: tests, specialists and the diagnostic journey, told by patients and reviewed against medical sources.

I understand the profound frustration that comes with the "diagnostic odyssey." Many individuals living with Ehlers-Danlos spend years visiting various practitioners before receiving an accurate name for their symptoms, often being told their pain or joint issues are "all in their head." Please know that your experience is valid, and the complexity of these connective tissue disorders often leads to delayed recognition in general clinical settings.

The Diagnostic Process

The diagnostic journey for Ehlers-Danlos typically involves a detailed review of personal and family medical history. A specialist—usually a clinical geneticist or a rheumatologist with specific expertise in connective tissue disorders—will perform a systemic physical examination to assess skin hyperextensibility, joint hypermobility (using the Beighton Score), and signs of tissue fragility. For the most common type, hypermobile Ehlers-Danlos, there is currently no identified gene, so the diagnosis remains strictly clinical.

Tests and Differentiation

While blood tests and imaging are not used to "diagnose" Ehlers-Danlos, they are vital for ruling out other conditions. Genetic testing is essential for the rarer, more severe subtypes, such as Vascular EDS, to identify specific mutations. Clinicians must carefully differentiate these syndromes from other conditions like Marfan syndrome, Loeys-Dietz syndrome, or generalized joint hypermobility spectrum disorders, which can present with overlapping symptoms.

The Importance of Expertise

If your primary care physician is unfamiliar with the nuances of Ehlers-Danlos, it is imperative to seek a referral to a specialist. Because these syndromes affect multiple organ systems, an expert can provide the specialized surveillance required to manage potential complications. Do not be discouraged if your first appointment does not yield immediate answers; persistence in finding a provider who understands the multisystem nature of this condition is a crucial step in your care.

Disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding your specific medical condition.

References

NIH Genetic and Rare Diseases Information Center (GARD): Ehlers-Danlos syndromes

Orphanet: Ehlers-Danlos syndrome

The Ehlers-Danlos Society: 2017 International Classification of the Ehlers-Danlos Syndromes

Author: DiseaseMaps Editorial Team

Reviewed against authoritative medical sources (NIH GARD, Orphanet, OMIM)

Last updated: 2026-04-06

Sources cited: NIH Genetic and Rare Diseases Information Center (GARD): Ehlers-Danlos syndromes · Orphanet: Ehlers-Danlos syndrome · The Ehlers-Danlos Society: 2017 International Classification of the Ehlers-Danlos Syndromes · WHO

Medical disclaimer: This information does not substitute professional medical advice. Always consult your doctor before making health decisions.

Source: DiseaseMaps.org

28 answers

The only 100% true diagnosis is genetic testing. But there is the Beighton Scale, which assesses joint hypermobility. If you score more than a 6 out of 9 points, you may have EDS.

Posted Apr 11, 2017 by Montana 1670

Depending on the type, diagnosis is clinical (based on signs and symptoms) or is based on genetic testing. EDS can affect every body system, so each individual will need to see the appropriate specialist for what systems are affected. For example, I saw orthopedics, rheumatology, neurology, cardiology, dermatology, and genetics when I was being diagnosed.

Posted May 10, 2017 by stairphobe 3070

The first doctor you want to go to is a Rheumatologist. The second is a geneticist. There aren't genetic tests for EDS Hypermobility type but it always helps. A Geneticist and a Rheumatologist can then help you get the help you need. It's of the most importance to get diagnosed. It helps with everything, and, at least, you DO know what you have.

One of the most important things is to have a family history at hand when you go to a Rheumatologist/Geneticist. Since there isn't a genetic test for EDS Hypermobility, family history and your own history is what the Geneticist will base their diagnosis on.

Posted May 25, 2017 by Maria 2051

Ehlers-Danlos can only be diagnosed by a medical professional, preferably a geneticist.

Posted May 26, 2017 by Stephanie 800

I saw a rheumatologist and then a geneticists to get my diagnosis. It was by no means an easy process. I had to fight to get my diagnosis and i any still fighting to get the right treatment now

Posted May 27, 2017 by Jude 2050

It's best to see a geneticist who will move your limbs around to see how flexible you are and base it on the Beighton Scale that goes from 1-9 points.They may also recommend bloodwork to rule out the most serious forms and order a baseline Echo to check the valve sizes of your heart. Orthopedic surgeons are imperative to have to order PT, and braces you may need.

Posted May 27, 2017 by Ashley 950

It is very difficult to diagnose and often people go decades without a diagnosis. Some types an be diagnosed with genetic testing but not the hypermobility type. Research this because it has a very complicated diagnosing criteria. I recommend Dr Staci Kallish for a diagnosis

Posted May 28, 2017 by Celi 2000

All forms of Ehlers-Danlos, with the exception of Hypermobility Type, can be diagnosed with genetic testing. Currently, the Hypermobility Type is diagnosed in a clinical setting through a 10 point physical analysis for common symptoms/ findings, such as "stretchy" skin and hypermobile joints.

Posted May 31, 2017 by KathrynOConnor 2200

Ehlers Danlos is diagnosised by genetic testing

Posted Jun 4, 2017 by Richelle 1750

For me, my EDS was diagnosed through the Beighton Scale.

Posted Sep 27, 2017 by Lbond94 4100

If you suspect you have eds get a referral to the genetics and they can also help you with getting referrals to different people you will need to see. For me I have a gi Dr, kidney Dr, lung Dr, pmr Dr, ortho Dr, pt, hematologist, primary, and a surgeon

Posted Oct 6, 2017 by Sasha 2050

By beighton score and genetic testing

Posted Oct 7, 2017 by Sharon 7050

For me it was a combination of medical history, an observant Nurses Assistant, DNA and blood testing.

Posted Oct 25, 2017 by Dolores 3050

Ehlers Danlos should be diagnosed the same for all
It should involve reports from many Specialists depending on what the patient is presenting with of course Rheumatologist / Geneticist / Dermatologist / Cardiologist / Opthalmologist / Neurologist / Hematologist / Internist / Physiatrist
It should begin with a Geneticist that specializes in Connective Tissue Disorders
Genetic testing up front
Genetic counselling - not just a geneticist that says ' show me your tricks' and you need to perform like a circus dog. Only to be sore days later.
These doctors must all have knowledge that not ALL EDS patients are hypermobile, have stretchy skin, or are tall and lean. A multidisciplinary approach to diagnosis is necessary for all types.
Testing for the common cardiac issues / genetic markers / structural differences / full medical history that includes symptoms and abilities past and present / Full family medical history / physical examination / that doesnt just involve the 'party tricks'
Sometimes the patient is looking for a simple answer to a question and not necessarily a diagnosis or a new label. Most important of all in this process, is a strong General Practitioner that is allowed the extra time needed to coordinate the protocol of care recomended after a diagnosis has been made. Without that, things can be a struggle.

The patient is in the drivers seat in their care but you have to be able to trust in the skill and training and expertise of your medical team. If you can't freely talk to a doctor and you don't feel heard, try and talk to them about that. If you still don't feel heard, find another doctor. This however is easier said than done. Doctors deserve respect, Patients also deserve respect. You might know more about this illness than the doctors you meet along the way, but you are the patient and at some point you MUST trust your doctor. ALWAYS research in peer reviewed articles, find support systems around you, don't overwhelm in the moment but prepare for doctor visits, and if you know something is wrong (even if tests and assessments say otherwise) push till you are heard. Do that in a respectful calm way and bring someone with you to appointments that can speak and ask questions when you can't.

A team is what EDS'ers need, but the proper team that you choose and feel comfortable with. Know what each Specialist does and what they treat, make sure your referrals are done and the content of the referrals are appropriate to the reason for the appointment

Posted May 11, 2018 by Izzy 600

A genetic exome usually done by a connective tissue genetics clinic and a clinical evaluation of criteria.

Posted May 26, 2018 by Danielle 1500

Hay estudio de sangre q es un estudio genético o la mayoría de las veces es con la clínica del paciente. Los síntomas . Se tarda en el diagnóstico

Posted Jul 6, 2018 by Estefania 1150

The Beighton Scoring System for hyper mobility. Genetic testing and some blood work.

Posted Mar 21, 2019 by pianocat_61 1400

Sometimes detailed family history sometimes skin biopsy with electron microscope beighton scoring

Posted Sep 29, 2019 by Amy 13500

Genetic testing for 13 of the 14 current types. Hypermobile Ehlers-Danlos syndrome currently has no genetic test and a clinical test for the condition can be done by a general practitioner. The criteria for diagnosis with Hypermobile Ehlers-Danlos syndrome can be found on the Ehlers-Danlos Society’s website at https://www.ehlers-danlos.com/

Posted Mar 10, 2020 by MegTheMariner 1870

The Beighton Score system measures joint mobility. A family history is taken, and you are asked about skin fragility and pain.
Many doctors are not knowledgeable about EDS or hesitant to diagnose because it is rare.

Posted May 12, 2020 by Alex 3551

Usually by a specialist and it usually takes years

Posted Nov 19, 2021 by NuNu 2550

Most subtypes are diagnosed by a genetic panel however HEDS is clinical diagnosis until they find the gene

Posted Nov 28, 2022 by Taiy rinaldi-bull 600

Translated from spanish Improve translation

There are two forms of diagnostics Ehlers Danlos syndrome by clinical history and by tests genetic

Posted Mar 25, 2017 by Paula Lopez 1151

Translated from french Improve translation

IT is diagnosed primarily by physical examination and a study of family medical history.
Several grid where criteria are used as the basis for the diagnosis.

Posted Aug 16, 2017 by Apolline 1205

Translated from french Improve translation

Unfortunately, there is a great diagnostic uncertainty in most patients SED. The history of the patient and family, as well as the clinic, are the first bases for a diagnosis. This diagnosis should then be confirmed by checking whether it is not another condition affecting the joint (diagnosis of exclusion). sometimes it takes years to finally be recognized by SED.
At the level of the clinic, the score of Beighton is still the most used. It measures instability of multiple. But it is clear that some physicians use it for the "now" so that it should be used, taking into account the patient's history. this is not because we do not know to put his hands on the ground for over 50 years, it has never been known to do that...
We will also consider the personal history in terms of sprains, dislocations, subluxations, tendonitis...

Posted Aug 17, 2017 by Sandrine 1790

Translated from french Improve translation

A geneticist or a professor who knows the sed
Diagnosed after wandering medical late
We are looking for a hyperlaxité, skin fragile and thin, hyper accousie (or hypo) , extreme fatigue , bowel problems (constipation / diarrhea ), bleeding, easy and abundant, surgery is ineffective and healing is long and difficult, migraine, spontaneous contraction of the muscles

Posted Aug 30, 2017 by Ehos 1050

Translated from portuguese Improve translation

Typically through the use of Queijas of the patient in relationship to your history. But not all doctors recognize this syndrome face.
If you need time and iniciátivas to discover is syndrome. Normally one should look for a geneticist, you can do skin biopsies to detect certain types of colágenos disabled or examinations that may lead to complete such sindorme.

Posted Aug 30, 2017 by Kayla Rarine 2000