What is EDS, Symptoms, Causes, Delays in Diagnosis, Getting a Diagnosis.

What is EDS?

If you want in-depth insights about Ehlers Danlos Syndrome, please purchase this book on Understanding Ehlers Danlos Syndrome - it will provide excellent technical clarity on what is happening medically.

If you want basic explanations about what EDS is, read on.

In layman's terms, human bodies are held together not just by the skeleton, but by connective tissue (flesh/skin) around the joints like your elbow, knee, ankle, neck and so on. This connective tissue contains something called collagen which is present in critical parts of your body like muscles, blood, vessels, organs and the nerves which transmit touch and pain from all over your body back to your brain. Collagen is like the glue that holds the body together. Normally this means people can walk or run long distances or carry heavy loads.

With EDS, your connective tissue around your joints is much more bendy (lax or loose) than in other people. While being double-jointed may not sound bad, this means your nerves are being stretched in ways they shouldn’t – so your joints begin to hurt. It also means your muscles may not work properly because they have to over-compensate for the bendiness by over-working. You are also more prone to poor proprioception (coordination, balance, sense of self) which might lead to some tripping or clumsiness. Your skin may be stretchy and fragile and prone to bruising or splitting. Your internal organs may not sit in the right place, or function with full effectiveness. Your digestive system may not push acid/food/waste through properly.

The symptoms vary a lot between those with EDS, but (to get more medically precise) it all stems back to your collagen protein in your connective tissue being weaker/stretchier than it should be.

If you have only some symptoms, this condition may be called HSD (hypermobility spectrum disorder). If you have more severe symptoms, you may be diagnosed with EDS. (HSD is more common, but you manage both HSD and EDS similarly - and new evidence suggests that they may be the same underlying condition but manifesting differently in different people). There are fourteen sub-types of EDS. Hypermobile EDS (often called hEDS) is the most common.

We’d encourage you to read a deeper definition here on the official EDS worldwide websites, which is also where you'll get more technical / medical definitions of the condition. Or buy Understanding Ehlers Danlos Syndrome for a more complete guide.

If I have EDS... what symptoms are common?

There is no one-size fits all description of the impact of EDS on people. This is especially true for EDS in children.

However, in layman's terms, the following symptoms are very common among those with EDS. (The names of the medical conditions that may apply for the symptoms below are given in brackets.)

Pain (fibromyalgia, nerve pain, chronic pain) - whole body, around joints, and/or headache/migraine
Joints almost popping out (joint subluxation) or dislocating entirely
Poor wound healing / easy bruising (tissue fragility)
Velvety, stretchy skin or unexpected stretch marks (skin hyperextensibility, greater than 1.5cm)
Issues with swallowing or digesting or IBS or feeling sick (Gastrointestinal manifestations, functional gut disorder, IBS, Dysphagia, nausea, abdominal hernia, gastroparesis, Gastroesophageal reflux disease (GERD))
Issues with temperature regulation, skin rashes, skin itchiness (Raynaud's phenomenon, MCAS - Mast Cell Activation Syndrome, asthma, anaphylaxis, dysautonomia)
Feeling dizzy or shaky when you stand up (POTS - Postural Orthostatic Tachycardia Syndrome)
Chronic fatigue or brain fog or challenges with sleep (chronic fatigue syndrome or myalgic encephalitis)
Clumsiness, falling or tripping or joint sprains, or difficulty with sports or difficulty with doing things with your hands (major motor or minor motor dyspraxia, poor proprioception).
Pelvic/uterus pain (Endometriosis)
Curved spine (scoliosis)
Depression/anxiety

If you have EDS, you don't necessarily have all of the above - but it is common to have many of them. The typical number of conditions if you have EDS is somewhere around 8-13. Patients know their body best - most people pre-diagnosis feel their symptoms aren't fully explained. Most have normal blood tests and many will have seen medical consultants who are unfamiliar with EDS and they will be told they can't find the issue.

The typical age that symptoms begin to appear is early-teens, though some present with symptoms earlier, and a few don't see symptoms until their 20s or later. Many would say their childhood was normal... up until a certain age. For others, the symptoms became an issue after an accident.

Further symptoms can be present, ranging from issues with hearing, teeth / dental crowding, arthritis, jaws, elbows/shoulders, ribs, menstruation, tendons, cranial/spine issues, fainting and others... Sometimes these are caused by EDS directly... and sometimes these are a different condition that commonly co-occurs alongside (i.e. is comorbid with) EDS.

Finally, there are many with EDS who are neurodivergent (autistic and/or ADHD) and gender dysphoric (preferring a gender that is different to the birth gender). Estimates around neurodiversity range from 10-50% depending on whether 'confirmed' or 'suspected' neurodiversity is counted. This requires separate diagnosis.

More authoritative sources include: The Ehlers Danlos Society website, The EDS UK Website GP diagnostic advice, Common Features, and the US National Library of Medicine.

Note that the symptoms above also apply to those diagnosed with HSD - they will just have fewer symptoms overall (and with less severity) than those with EDS. Note that children initially diagnosed with HSD may grow up with more symptoms presenting later, and switch to a diagnosis of EDS.

Curious about why there are so many possible symptoms? To give just one example: a duct near the gallbladder is meant to direct bile to the small intestine to help with digestion, but with EDS interfering with connective stability, this duct's motility (ability to move this bile liquid) might not work and the bile instead emerges in the stomach, where it can eat away at stomach lining causing nausea. Unlike acid reflux, when someone has bile reflux it is alkaline which is why acid reflux medication does not work. So you have a really generic symptom (nausea, sore stomach) and the typical medication does not work, yet the underlying cause happens to be EDS.

Note also too - that having EDS does not mean you never get other health conditions. EDS may explain a lot but it's always important not to rule out related or unrelated conditions.

To summarise:

A lot of health conditions co-occur with EDS
Autism and/or ADHD are common to have with EDS
Tap into the community if you have questions
EDS affects your soft tissue on the outside, but can also affect organs on the inside
HSD can generally be treated like EDS

EDS is a genetic condition and there are one of two answers as to how you would have got it: (1) it can be passed on by your parent(s), or (2) it may be chance that you got this gene. If you did get passed EDS by a parent (and there is probably a 50% chance you did if they have an EDS diagnosis), your symptoms may vary from that of your parents. If one person has EDS, their relatives may or may not have EDS - self-reports on the forums indicate that siblings (and even identical twins) who each have EDS tend to have different symptoms (and/or symptoms that manifest at different ages).

80% diagnosed with EDS are female... but it's unclear if this is the actual rate... or if it it just that men are less symptomatic than women.

As said above, for many, symptoms only appear later in life (and often only get diagnosed much later in life) though you have always had EDS. For some, symptoms appeared after injury/trauma, for others after COVID, while others say symptoms appeared by themselves.

90% of those with EDS have hypermobile EDS (hEDS). While EDS is genetic, the most common type (hypermobile EDS) does not yet have a blood test that can reliably diagnose (although research is very active here). One of the knock-on effects is that the estimate for the prevalence varies a lot - from 1 in 5000 (i.e. a rare disease) to 1 in 500 (which would be much more common). Recent research hints that Hypermobile EDS and Hypermobility Syndrome Disorder are actually the same condition but with symptoms that are different in different people. This would make the condition even more common. It will take a few more years for research to complete for us to know definitively.

The 13 rarer of the 14 sub-types are identified genetically, and you can conduct genetic tests to confirm you have these sub-types. The more common rarer forms include Classical (which often gives skin fragility but also has many symptoms of hEDS), Vascular (which may give organ fragility) or one of 11 other types which affect around 1 in a million people. In such cases, you will need to monitor your health more closely.

How would I have gotten EDS?

Why hasn't my GP diagnosed me before?

There are 10,000 rare conditions each of which affect fewer than 1 in 2000 people (though combined, 1 in 17 people in Ireland have a rare disease!) But the typical methods of diagnosis used by GPs don't consider these rarer diseases - GPs focus on having good knowledge of common issues and using their memory/knowledge to diagnose. There is no easy test. Symptoms are similar to other conditions like long COVID, ME, Arthritis, IBS, migraines, tissue lining disorders, and this means diagnosis involves a lot of trial and error - it is easy for doctors to think you have a more common disease. Furthermore, specialist consultants only look at part of the body, and don't see the whole set of chronic symptoms. Average diagnosis time is about 10 years, which is too long.

As of 2024, legislation is currently passing in Ireland that will digitise the health service and provide a single common record that you can make accessible to all health professionals. This will likely be critical to showing more consultants the full picture, and for the Department of Health to be able to track all patients with EDS or other rare conditions and measure their health outcomes (something that is not done today). This digitization (that will include a patient app for your phone) will take a number of years to be implemented and rolled out. Even then (as experiences in the NHS in the UK show) it will take government sponsorship of rare disease outcomes to make a difference.

EDS societies including Irish EDS do work to promote EDS to health professionals... although so do health advocates of the many other rare conditions, so there is no easy, scalable "fix" to this problem.

This video (watch from 5m36s onwards) of Aimee is a dishearteningly common story worldwide, including Ireland.

One commonly asked question on the EDS forums is - should I get a diagnosis? Or - if someone has said they think I have EDS, should I get a formal diagnosis?

We would generally say yes. It will connect you to the right consultants to help improve your health, and lead to better support at schools, governmental institutions and employers. (It will also help you rule out OTHER conditions which might be harmful if left untreated.)

Since EDS has well recognized conditions that frequently co-occur (called comorbid conditions), you'll be able to diagnose all the other stuff going on too. You'll confirm you've found the right community of people who can give you suggestions on your lifelong journey. You'll further be able to seek recommendations on EDS forums for health professionals who are familiar with EDS, which further increases the chance you'll get a consultant who both really helps you and who believes what you say.

A formal diagnosis of EDS may help (depending on symptoms) claim disability payments, free travel passes, disability rights with your employer, special assistance during school/exams, or other assistance.

If you have one of the rarer types of EDS, you are at greater risk of more serious health conditions that should be deliberately ruled in or out so that if you do have a diagnosis you can manage it.

If you have a formal diagnosis, then referrals to other specialists (rheumatologists for joints, pain consultants, gastroenterologists etc.) will all come through significantly faster than if you do not have a diagnosis.

So many people who get diagnosed talk about how validated it makes them feel, especially as so many people get told they have other conditions (or worse, get told they are making it up or should just do some exercise). (If you also feel overwhelmed once you have the diagnosis, see the tips on mental health under other health symptoms.)

Finally, a diagnosis is important just in case you don't have Hypermobile EDS - in which case, you may need different treatments / medical attention.

There are a few important call-outs. If you're about to get private health insurance, you may want to check out how they will handle "pre-existing conditions" if you get a formal diagnosis.

If you're of older age and you've already spent decades managing the condition, you may not get as much benefit from a diagnosis. It would still be very validating, and you would be able to connect with a community that empathises deeply with what you're going through, but it is maybe more of a personal decision.

Finally, we hear from some parents that they are concerned about how a child with suspected EDS deals with the diagnosis - a fear that if they think they are disabled with an incurable condition, that they will give up. Generally we'd observe that the best thing to do is to accept the condition/diagnosis and for the family to pivot to learn to support the individual better. Physical health conditions, very challenging mental health/social self-exclusion, and risk of injury are all possible if EDS is not managed deliberately - especially if symptoms are more severe. Ultimately though this is a decision for the individual/family concerned.

To summarise:

A diagnosis will tend to speed up referrals
A diagnosis will help you rule out other causes
A diagnosis will almost always be required for support from schools, employers or for state benefits.
Ultimately, the decision is yours however.

Should I get a formal diagnosis?

How do I get a diagnosis in Ireland? And what happens in the appointment?

To get a formal diagnosis, we recommend using a health professional in your area that the EDS Community themselves say is knowledgeable. There are consultants (geneticists or rheumatologists) who specialise in EDS diagnosis.

Both hypermobile EDS and Hypermobility Spectrum Disorder are currently diagnosed with a manual exam by a consultant who is familiar with EDS. Rarer sub-types of EDS require a genetic test in addition to a manual exam. (There is promising active research to find the genetic markers for hEDS/HSD, which would allow a blood test to be used in the future, but nothing is in place yet).

While prices/waiting lists vary per provider, a private diagnosis using a physical examination may cost around €500 and you will be seen within roughly 6 weeks. A public health service (HSE) diagnosis will take months or maybe 1+ years depending on the severity of your symptoms.

If you're seeking advice on who should diagnose you, join the Irish EDS Support Group on Facebook and say “I live in/near City X – who should I see to get a formal EDS diagnosis?”

We're conscious that many with EDS may be on reduced income. Of all the services we'd recommend you consider paying for privately if you can, the diagnosis is at the top of the list. If you go down this route, you will pay for an initial appointment only and won't be obliged to pay for anything further privately that you don't want to.

Before the appointment, write some notes. Perhaps send an email ahead of the appointment. Document which symptoms you have and their severity and frequency. Call out anything that particularly worries you (you may get a referral as part of the appointment). Call out any family history. If you can't do this don't worry, it's good to do but not required.

In the meeting, the consultant (who has seen 100s of people with HSD, EDS and other conditions) will then give a formal diagnosis. So long as you've been referred to one of the country's EDS specialists, you should trust this diagnosis more than other appointments. The process of a diagnosis is explained here.

If you do have HSD or Hypermobile EDS, you should ask to get a formal letter of diagnosis with recommendations.

If the doctor suspects you have certain rarer sub-types, you may need to be referred for genetic testing. (This is expensive privately if you don't have health insurance). This would be done in a follow-on appointment.

Note for children: scientists don't yet have a genetic test for hypermobile EDS, and per international guidelines, children under 18 (especially under 15) may not get a formal diagnosis of EDS unless symptoms are very severe. A diagnosis of hypermobility spectrum disorder (HSD) may be given instead. Symptoms may change as they grow, and if desired, you can go back for an EDS diagnosis when your child is older. (The way you manage HSD and hypermobile EDS are the same anyway)

Have you been diagnosed with EDS?

Learn how to manage and live with EDS.

First, please note that just because you think you or your child has EDS, it is critically important that you let your doctors continue to explore other causes - in case it is a condition which is not EDS. You may need different drugs / treatment / surgery if the root cause is different.

If you still think it is EDS (and maybe you're waiting for an appointment to confirm), you can read advice from this site as the supports and lifestyle changes/exercise recommended are gentle and non-invasive. Just don't rule out other possible causes.

You can still use medical consultants or GPs to help with symptoms even if a diagnosis is not confirmed. However, if your current treatment plan isn't working, they may deny you stronger treatments or medication until you have a diagnosis. Public services like occupational therapy or pain therapy, will likely place you on a 1+ year waiting list without a diagnosis. Private referrals will also be longer.

Finally, while you may be able to get support from your employer, school or council to make it easier for you to manage long days of activity - these will not be offered willingly without a diagnosis.

What if I don't have a diagnosis yet?

What if I was denied a diagnosis?

As said above, always work with your doctor to explore conditions they think it might be, even if you suspect EDS.

There are a few common reasons for not succeeding in getting a diagnosis even if you suspect EDS.

A consultant may have said it is not EDS: If you have been referred to a consultant who isn't very familiar with EDS (read here why this is common), then they may not have seen enough patients with EDS to feel confident diagnosing you. Generally we'd advise you to join the Irish EDS Facebook group, share what happened (and with which consultant), and the community/admins will advise if you talked to an expert in the field... or a consultant with less knowledge of EDS who may have given the wrong diagnosis. If you're confident you do have EDS, you may need to seek a second opinion (use our Facebook group to get recommendations). Even if you feel you disagree with the consultant, please still follow their guidance on how to manage symptoms even while you seek a second opinion.

A consultant may have said she or he can't diagnose your child with EDS: If you have a young child, you should be aware that diagnostic criteria have changed and they are following guidelines that they must diagnose Hypermobility or Hypermobile Spectrum Disorder rather than EDS. The severity of symptoms and family history can increase the likelihood your child does get diagnosed. If they don't get a diagnosis of EDS, that's OK - you would manage a child with HSD in the same way as EDS. You should still ensure you get a letter with the HSD diagnosis with symptoms listed, as it will help get support from schools.

Do note that as children get older (past puberty), it is OK to seek a new opinion. Most symptoms manifest around puberty which will make the consultant more confident in their diagnosis.