Commonly regarded as a rare genetic condition, ehlers-danlos syndrome (EDS) is often mis- and underdiagnosed. Thankfully for sufferers of the condition, awareness of EDS amongst medical professionals and practitioners is on the rise.1
EDS affects the stability and functioning of the connective tissue in the body: commonly in the joints and skin and more seriously, in the blood vessels and organ tissue. The range of symptoms you experience will be specific to one form of EDS, which will be diagnosed by your doctor. Receiving a diagnosis is necessary to decide how your condition should be managed and treated - essential to avoid a deterioration in your health and possibly life-threatening complications. Thankfully, treatment options for EDS are highly accessible and help most patients to manage their condition.2
It is important to understand the basics about an EDS diagnosis; whether for yourself, a friend or a family member in order to support your own health or anothers to make living with the condition easier.
Ehlers-danlos syndrome (EDS) is regarded as a rare genetic disease.2
There are 13 variations of ehlers-danlos syndrome that can occur, so symptoms will vary depending on the type you are diagnosed with. If you are affected with one type of EDS, it is very unlikely you will also be affected with another given the rarity of the disease.3
It is important that you receive a diagnosis for the symptoms you are experiencing so you can follow the correct course of action for your health. For EDS, there is no cure but there are plenty of management techniques that you can employ to improve your quality of life while living with the condition.4
Causes of ehlers danlos syndrome
Ehlers-danlos syndrome (EDS) is a genetic condition meaning that you will be born with it and show symptoms as you age.
Patients with EDS have a defective connective tissue gene that can result in poor connective tissue strength in joints, skin, blood vessels, and vital organs. The type of EDS you are born with, and hence the symptoms you experience, will depend on what genes are passed onto you by your parents.2
Only 1 parent with the condition/gene is required for children to develop:
- Hypermobile EDS (hEDS)
- Classical EDS (cEDS)
- Vascular EDS (vEDS)2
- Arthrochalasia EDS (aEDS)5
- Myopathic EDS (mEDS)6
Both parents must be carrying an EDS gene for a child to develop:
- Kyphoscoliotic EDS (kEDS)
Passing on a clinical case of EDS or a genetic predisposition to EDS to your children is not always certain - there is about a 25-50% chance.2
Signs and symptoms of ehlers danlos syndrome
Hypermobile EDS (hEDS)
Hypermobile EDS (hEDS) is the most common type of ehlers-danlos syndrome.3
It causes symptoms such as:
- Stretchy, easily bruised skin
- Loose, flexible joints (hypermobility)
- Joint pain
- Excessive fatigue2
It is often misdiagnosed as a similar syndrome called hypermobile spectrum disorder (HSD) due to the overlap in symptoms.
Both disorders are treated similarly due to the joint problems and pain they cause, however, getting diagnosed with the correct one is essential given that hEDS can lead to more serious complications such as:
- Joint dislocation
- Indigestion problems
- Bladder malfunctions (incontinence)
- Heart problems (abnormal heart rate)
- Organ prolapse2
Classical EDS (cEDS)
Classical EDS (cEDS) is a rarer type of ehlers-danlos syndrome. cEDS affects both the joints and the skin similarly to hEDS, but symptoms related to the skin will be most prominent.
In cEDS, you will be vulnerable to skin that:
- Tears easily
- Heals very slowly after a cut or wound
- Scars excessively
There is also a risk of developing hernias and organ prolapse in cEDS, though these are more serious complications.2
Vascular EDS (vEDS)
Vascular EDS (vEDS) is another rare form of ehlers-danlos. It is also considered the most severe variation of the disease due to its prominent effect on the blood vessels and organs.
Patients with vEDS will be highly prone to internal bleeding as the blood vessels are very thin and easily tearable. If a blood vessel tears and bleeds, your condition will become life-threatening and you should seek emergency medical attention.
vEDS also causes the organs, for example, the bowel and the lung to easily rupture. Those with vEDS will also be vulnerable to the uterus splitting during late-stage pregnancy.
To diagnose this type of EDS your doctor will look for specific physical signs such as:
- Abnormal joint flexibility in the fingers and toes
- Prominent varicose veins
- Bulging eyes
- Tiny or absent ear lobes
- Thinner than usual nose and lips2
Kyphoscoliotic EDS (kEDS)
Kyphoscoliotic EDS (kEDS) patients will display the distinct symptom of curvature of the spine, along with many of the same skin and joint symptoms of classical and hypermobile EDS.
kEDS will present from childhood and worsen into young adulthood: spinal curvature and poor muscle strength may make moving around particularly difficult.
Periodontal EDS (pEDS)
Periodontal EDS (pEDS) has little known about it for certain compared to other forms of EDS. The most obvious symptom is inflammation and receding of the gums. Skin tissue will also show signs of easy bruising and breakage.7
Other types of EDS with many similar symptoms to classical and hypermobile EDS include:
- Arthrochalasia EDS (aEDS) - symptoms usually onset in early childhood5
- Myopathic EDS (mEDS) - symptoms usually onset in adulthood6
Management and treatment for ehlers-danlos syndrome
There are several accessible treatment options that your doctor should recommend to you to help you manage your condition after a diagnosis.
Important steps to follow (in no particular order) include:
- Taking medications prescribed by your doctor, i.e, those that provide joint pain relief or reduce your blood pressure to help avoid bursting blood vessels
- Adjusting your lifestyle to include exercise and movement that has a low chance of injury, i.e, low-impact activities like walking and swimming
- Implementing aids such as sturdy shoes that support your foot and ankle joints and a body pillow or thick mattress to support aching joints while you sleep4
If you do sustain an injury while having EDS it is important to get checked for signs of internal bleeding as this could be life-threatening. You should also receive medical attention if you have a wound that won’t heal as this could make you prone to an infection.
Physical rehabilitation will be recommended to you if you sustain an injury to your limbs, e.g., a joint dislocation. You should engage in movement shown to you by a physiotherapist to allow your joints and muscles to strengthen - this might help prevent any further dislocations in the future.
Looking after and worrying about your physical health with EDS can also take a toll on your mental health. Therefore, it is important to reach out to those close to you and other professionals if you cannot manage your condition on your own. Discussing your experience and struggles with EDS can help others better understand how they can assist you and make your daily life easier.
It is also important to have transparent conversations with your child about your or their condition. Allow them to know more about EDS so they know why you have set certain boundaries for yourself or them. It may be particularly distressing for your child to cope with their own EDS at first but with a network of supportive family, friends, and teachers it can seem less scary and more a part of their normal everyday life.4
How is ehlers danlos syndrome diagnosed
Your doctor will assess your physical condition and family history in order to give you a diagnosis of ehlers-danlos syndrome. If you exhibit symptoms characteristic of EDS and/or have parents or grandparents with the disease, your doctor will most likely give you a positive diagnosis. If your doctor suspects you may have a rarer form of the condition, a further diagnostic test of a blood sample may be performed to check for genetic markers of EDS.4
EDS can sometimes be misdiagnosed as another connective tissue disorder called hypermobile spectrum disorder (HSD) and vice versa so it is important to be referred to the right doctor or specialist team to receive the correct diagnosis.3
Can I prevent ehlers danlos syndrome
As ehlers-danlos syndrome is a genetic condition, you cannot prevent yourself or your children from being born with it. However, as it is a rare condition the chance of the disease running in your family and the chance of you being born with EDS without any family history of the disease is low.2
Who are at risk of ehlers danlos syndrome
If there is a known occurrence of EDS within your family, the chances of you or your children inheriting the disease is higher, for example, if you have immediate family members (such as parents or grandparents) with the disease.
If you or your partner have been diagnosed with EDS (types hEDS, cEDS, or vEDS) or are carrying the gene for one of these variants, there is a 1 in 2 chance that any children you may have will develop the condition. If both you and your partner are carrying the gene for a rarer form of EDS (kEDS), there is a 1 in 4 chance that your children will develop the condition.2
How common is ehlers danlos syndrome
Ehlers-danlos syndrome is thought to occur in every 1 in 5000 people. One study's findings suggest that the condition is more common in women than in men, however, women are more likely to receive a later diagnosis of EDS than men. Evidence also suggests that the disease is somewhat underdiagnosed despite its status as a rare condition.1,3
When should I see a doctor
You should see a doctor if you recognise some or most of the symptoms of any type of EDS in yourself or your child. The doctor will be able to provide you with symptom and pain management solutions no matter what diagnosis you receive (whether it is EDS or not). EDS should not be self-diagnosed - a doctor will have to confirm your condition and give you a treatment plan to follow. All types of EDS should be treated seriously as symptoms can develop into life-threatening if not managed properly. It is also vital that others including your family, friends, school, and workplace are aware of your condition to prevent complications and a deterioration in health.4
Having a rare genetic condition is not always easy to manage given the range and severity of symptoms that all types of EDS can cause. Thankfully, there are several accessible options available to help you manage pain and other symptoms. Having EDS also comes with a higher risk of injury due to the fragility of your connective tissues - this will require adjustments in your lifestyle and the activities you partake in. If you are struggling in any capacity do not hesitate to reach out to family, friends, and other trusted people for support. Your doctor and a team of other professionals should always be available to answer your questions if you have any concerns about your condition and support you on a lifelong basis as you treat your EDS.4
- New research shows hEDS and HSD 10 times more common than previously thought – The Ehlers-Danlos Support UK [Internet]. [cited 2023 Mar 22]. Available from: https://www.ehlers-danlos.org/news/new-research-shows-heds-and-hsd-10-times-more-common-than-previously-thought/
- Ehlers-Danlos syndromes [Internet]. nhs.uk. 2017 [cited 2023 Mar 22]. Available from: https://www.nhs.uk/conditions/ehlers-danlos-syndromes/
- Types of eds – the ehlers-danlos support uk [Internet]. [cited 2023 Mar 22]. Available from: https://www.ehlers-danlos.org/what-is-eds/information-on-eds/types-of-eds/
- Ehlers-danlos syndrome - diagnosis and treatment - mayo clinic [Internet]. [cited 2023 Mar 22]. Available from: https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/diagnosis-treatment/drc-20362149#
- Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, et al. The human phenotype ontology in 2021. Nucleic Acids Research [Internet]. 2021 Jan 8 [cited 2023 Mar 22];49(D1):D1207–17. Available from: https://academic.oup.com/nar/article/49/D1/D1207/6017351
- Orphanet: myopathic ehlers danlos syndrome [Internet]. [cited 2023 Mar 22]. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516#:~:text=A%20rare%20systemic%20disease%20characterized,and%20hypermobility%20of%20distal%20joints.
- An overview of the history and features of periodontal eds – the ehlers-danlos support uk [Internet]. [cited 2023 Mar 22]. Available from: https://www.ehlers-danlos.org/information/an-overview-of-the-history-and-features-of-periodontal-eds/