Ehlers-Danlos Syndromes (EDS)

We have all imagined ourselves having superpowers at least once in our lives.

My favorite is Elastigirl from The Incredibles. I know some people prefer Superman or Batman, but I found super-elasticity to be my go-to superpower.

Unfortunately, superheroes are not real, and I am never going to be as flexible as Elastigirl.

Ehlers-Danlos Syndromes

But what if I told you that some people have some of her flexibility, but in real life?

However, instead of a superpower, these guys have a connective tissue disorder called Ehlers-Danlos Syndromes (EDS).

Today, I’ll be talking about this strange disease and how it affects tens of thousands around the world.

What Is Ehlers-Danlos Syndromes?

Ehlers-Danlos Syndromes are classified as connective tissue disorders.

It’s inherited from one or both parents. The group of disorders occurs when collagen production, processing, or structure are affected by genetic defects.

Collagen is an important protein that makes up most of the connective tissue in the body. So, a disruption in this protein can result in several major problems.

There are 13 types of documented Ehlers-Danlos Syndromes. Most of them are quite rare, some even have only one reported occurrence.

Ehlers-Danlos Syndromes 13 Subtypes

These disorders have varying effects and complications, often causing misdiagnosis in some cases.

How Do You Get These Disorders?

The research into these disorders has found gene mutations to cause EDS. However, some cases of EDS don’t follow this theory.

It’s often inherited from single or both parents. The gene inheritance occurs in an autosomal dominant or an autosomal recessive manner.

Autosomal Dominant Inheritance:

This is when only one copy of the disease is required to inherit the disease.

So, there is a 50% chance of the child inheriting the disorder.

Other examples of diseases with Autosomal Dominant Inheritance include Huntington’s disease and myotonic muscular dystrophy.

Autosomal Recessive Inheritance:

Here, the baby can only inherit the disease if two copies are present. So, both parents have to have the mutated gene for the child to inherit the gene.

If this happens, there is a 25% chance of the baby having EDS.

Other examples of diseases with Autosomal Recessive Inheritance include cystic fibrosis and sickle cell anemia.

How Are These Disorders Diagnosed?

As for the cure for EDS, there are none.

But, there are treatment and management options that can limit complications and reduce the symptoms of the disorders.

I also found some other connective tissue disorders that have similar symptoms to some EDS subtypes. These include some hypermobility spectrum disorders.

So, gene testing can confirm EDS-status for anyone who suspects they have the disorder.

The gene testing includes molecular diagnostic strategy and copy number variant (CNV) detection strategy.

Ehlers-Danlos Syndromes - Gene Testing For Diagnosis

However, some people don’t have access to molecular diagnosis. And others may have one or more gene variants that don’t signify these disorders.

A ‘provisional clinical diagnosis’ is advised in this case.

Here, the doctor will ask and see the visible signs and symptoms of the disorder to evaluate its subtype.

Unfortunately, every person with EDS has a different experience which can make diagnosis difficult.

So, contact the doctor to get tested if you think you have EDS.

Interesting Fact About EDS: Some animals have exhibited EDS symptoms. These include domestic shorthair cats, domestic dogs, certain breeds of cattle, and Himalayan cats.

13 Subtypes of EDS:

As mentioned earlier, this strange disorder has 13 separate classifications depending on the mutation to the gene.

Here, I have listed them down:

Hypermobile EDS (hEDS)

hEDS is one of the most common types of EDS.

Those who have hEDS have smooth, soft and velvety skin. But they have easily bruised skin. Their muscle and bones often end up having chronic pain because of the hypermobility.

Most people who have this type of EDS have accelerated collagen buildup in their connective tissue. But this can cause joint subluxations and dislocations. They can require braces and physiotherapy to cope with their disorder.

Ehlers-Danlos Syndromes - Hypermobile EDS

Classical EDS (cEDS)

cEDS was the first discovered EDS.

Those who have cEDS have smooth but very elastic skin. However, the skin is very fragile and can easily bruise. This can also cause joint hypermobility and as flat or deep atrophic scars.

Hypotonia (weak muscle tone) and slower motor development are also known signs of cEDS. People with this disorder can have Molluscoid pseudotumors and cysts on the forearms and shins (spheroids).

Ehlers-Danlos Syndromes - Classical EDS

Vascular EDS (vEDS)

While other types of EDS don’t affect life expectancy, this one does.

Those with vEDS usually have thin scalp hair, large eyes, lobeless ears, thin nose, and are short. They have limited joint hypermobility (finger and toes only) and are more prone to early onset varicose veins.

The extremely thin and translucent skin can be very fragile. This disorder can cause lung collapse and tendon/muscle rupture, which can result in death. Other symptoms of vEDS include receding gums, reduced subcutaneous fat, and premature skin aging.

Ehlers-Danlos Syndromes - Vascular EDS

Kyphoscoliosis EDS (kEDS)

kEDS is one of the rarer types of EDS which is present at birth.

Those with kEDS are easily bruised, have small corneas, low bone density, and easily rupturable arteries. They also have severe hypotonia, progressive scoliosis and delayed motor development.

There are also cases where kEDS has resulted in pectus excavatum (sunken chest) or pectus carinatum (protruding chest).

Ehlers-Danlos Syndromes - Kyphoscoliosis EDS

Arthrochalasia EDS (aEDS)

This EDS type is often identifiable by the congenital hip dislocation and severe joint hypermobility of the patients.

Those with aEDS have elastic skin that is easily bruised, hypotonia, osteopenia, and kyphoscoliosis.

Ehlers-Danlos Syndromes - Arthrochalasia EDS

Dermatosparaxis EDS (dEDS)

dEDS causes the recipient to have skin that is saggy, easily scarred, easily bruised, fragile, and redundant.

This EDS type often affects the skin on the face and abdomen.

Ehlers-Danlos Syndromes - Dermatosparaxis EDS

Brittle Cornea Syndrome (BCS)

BCS is easily identified by the blue sclerae (whites in the eyes). This disorder occurs when the central corneal thickness of less than 400 nanometers.

This EDS type also causes early onset progressive keratoglobus and requires molecular testing to be confirmed.

Ehlers-Danlos Syndromes - Brittle Cornea Syndrome

Classical-Like EDS (clEDS)

clEDS causes generalized joint hypermobility (GJH) that most often affects the shoulders and ankles. It also causes velvety skin that is very stretchable but which doesn’t cause atrophic scarring.

This type of EDS also causes spontaneous skin discoloration due to bleeding underneath (ecchymoses).

Ehlers-Danlos Syndromes - Classical-Like EDS

Spondylodysplastic EDS (spEDS)

This is one of the most noticeable types of EDS because of the bowing of limbs that occurs.

Other than this, spEDS also results in short stature and muscle hypotonia.

Ehlers-Danlos Syndromes - Spondylodysplastic EDS

Musculocontractural EDS (mcEDS)

This EDS type causes clubfoot, deformed craniofacial features, and adduction-flexion contures. These signs are evident during birth.

The skin of someone with mcEDS is fragile, easily bruised, very stretchable and prone to atrophic scars. It also causes wrinkles on the palms.

Ehlers-Danlos Syndromes - Musculocontractural EDS

Myopathic EDS (mEDS)

mEDS is a type of EDS disorder that can improve with age. The effects of this disorder include muscle atrophy or congenital muscle hypotonia.

This one also causes hypermobility of the ankles, feet, wrists, and hands. It also causes proximal joint contractures in the knee, hip, and elbow joints.

Ehlers-Danlos Syndromes - Myopathic EDS

Periodontal EDS (pEDS)

pEDS can result in severe periodontitis in children. It also causes pretibial plaques and reduces gum tissue.

Ehlers-Danlos Syndromes - Periodontal EDS

Cardiac-Valvular EDS (cvEDS)

This type of EDS causes joint hypermobility of the hands, fingers, and toes. It also causes severe progressive cardiac-valvular problems which can affect heart health.

It’s also associated with fragile skin, thin skin, atrophic scars, and hyperextensibility of the skin.

Ehlers-Danlos Syndromes - Cardiac-Valvular EDS

People With EDS:

EDS is not as rare as you may have thought. One in every five thousand people have one form of EDS or another, with different severities.

Here are few famous people who have suffered from EDS:
  • Shakira
  • Rei Haycraft
  • Daniel Browning Smith
  • Mandy Morbid
  • Eric Lynch
  • Mandy Harvey
  • Mylene Klass
  • Gary Turner
  • Cherylee Houston
  • Kelly Osbourne
  • Yvette d’Entremont

Medical Help With Ehlers-Danlos Syndromes:

If any of the mentioned symptoms of EDS are present in your child or yourself, consult your doctor.

After assessing with the provisional clinical diagnosis, the doctor may ask you to do a molecular diagnostic test. This test should help pinpoint which gene you possess that has resulted in the alteration of collagen production.

That said, some symptoms like hypermobility are common in healthy people as well.

So, just because you’re very flexible or can touch your nose with your tongue, you don’t have to have EDS.

You may also visit a rheumatologist (joint specialist) if you think you have EDS. But, it’s always best to get your genetic tests done to reach a proper conclusion about your disorder. After all, other disorders have similar symptoms to EDS.

Dealing With EDS:

Since you are born with EDS, there is nothing you can do to get rid of it. The best solution so far is to manage the complications that can arise.

Ehlers-Danlos Syndromes - Dealing With EDS

The way you deal with EDS will vary depending on which type you have but here are some general pointers:

  • Learn to pace yourself if you get tired easily
  • Avoid physically demanding activities like contact sports or bodybuilding
  • Consider low stress activates like swimming to stay fit
  • Wear clothes that relieve the strain on your joints

Conclusion:

When I first heard of this disorder that gives you super flexible joints and skin, I was ecstatic.

But after doing my research on this disorder, I am struggling to maintain my enthusiasm about Elastigirl’s superpower.

In regards to Ehlers-Danlos Syndromes, it seems to be a severe disorder to deal with. While the described symptoms in this article are for severe cases, even mild cases have their daily lives affected.

Ehlers-Danlos Syndromes Affects A Lot Of People

I wish that the scientists who are working on Ehlers-Danlos Syndromes can find a cure for this disorder quickly.

And if you are someone who thinks they may have EDS, you should contact your doctor to get tested.

References:

  1. https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome
  2. https://www.ncbi.nlm.nih.gov/pubmed/24443025
  3. http://www.reumatologia-dr-bravo.cl/Villefranche/Ehlers-Danlos_Syndrome_Revised_Nosology.pdf
  4. https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31550
  5. https://www.ncbi.nlm.nih.gov/pubmed/20301635
  6. https://www.ncbi.nlm.nih.gov/pubmed/20301422
  7. https://medlineplus.gov/ency/article/002049.htm
  8. https://www.mayoclinic.org/autosomal-recessive-inheritance-pattern/img-20007457
  9. https://www.cdc.gov/ncbddd/sicklecell/
  10. https://www.medicinenet.com/hypermobility_syndrome/article.htm
  11. http://www.prion.ucl.ac.uk/research/mrc-prion-ucl-research-groups/molecular-diagnosis/
  12. https://www.nature.com/articles/s41598-018-22323-8
  13. https://www.nhs.uk/conditions/joint-hypermobility-syndrome/
  14. http://www.dailymail.co.uk/health/article-2599107/Varicose-veins-Its-not-grannies-varicose-veins-just-ask-Miss-England.html
  15. https://pedsurg.ucsf.edu/conditions–procedures/pectus-excavatum.aspx
  16. https://www.nhs.uk/conditions/developmental-dysplasia-of-the-hip/
  17. https://www.aimu.us/2018/02/25/keratoglobus-symptoms-causes-diagnosis-management-and-complications/
  18. https://www.medicalnewstoday.com/articles/321943.php
  19. https://www.sciencedaily.com/releases/2014/09/140926141012.htm
  20. https://www.sciencedirect.com/topics/medicine-and-dentistry/joint-contracture
Michelle

Michelle is the senior most expert who writes for this website. After completing her graduation and 10+ years of practice, Michelle has been involved and known for a lot of her philanthropy work. Michelle loves spending time researching and writing her papers. She occasionally writes for us and we are extremely proud to have her as one of our editors.

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