What Is Ehlers-Danlos Syndrome? A Quick Guide to This Mysterious Syndrome

We all know someone who’s hypermobile, super flexible and their party trick is being able to extend loose joints or stretch their elastic skin (or skin hyperextensibility as it’s medically known). But did you know that these are all signs of a painful, severe form of Hypermobility Spectrum Disorder called Ehlers-Danlos Syndrome (EDS)?

Vascular EDS

Vascular Ehlers-Danlos Syndrome is characterized in diagnostic criteria by vascular fragility, which means fragile blood vessels in the body can rupture easily. This can lead to internal bleeding or bruising, especially after minor injuries. As it is a vascular type it also affects the heart and lungs.

You may also heard Vascular Ehlers-Danlos Syndrome referred to as Ehlers-Danlos Syndrome Type IV. Those with a family history of Vascular Ehlers-Danlos Syndrome show inheritance patterns of spontaneous ruptures, mitral valve prolapses and other similar clinical criteria relating to scarring and damage.

Hypermobile EDS

Hypermobile Ehlers-Danlos Syndrome (hEDS) is the hypermobile type caused by an increase in collagen production. Collagen is the main component of tendons and ligaments. The extra collagen makes these tissues too strong and causes them to stretch more than they should, which causes joint pain that comes with unstable joints, in particularly distal joints such as ankles and wrists. 

Joint dislocations such as congenital hip dislocation are all-too common in the hypermobile type of EDS. As a result, this can lead to severe musculoskeletal pain which for many is excruciating.

Joint Hypermobility Syndrome

Joint Hypermobility Syndrome (JHS) is one of the most common types of Ehlers-Danlos Syndrome in the diagnostic criteria. However, it doesn’t necessarily mean that those with joint hypermobility have the hypermobility type of EDS, since it affects 1 in 30 people. Without other clinical criteria such as curvature of the spine, vascular complications such as vascular rupture, and fragile skin, it’s unlikely you have EDS as a result of hypermobility.

Ehlers-Danlos Syndrome can affect anyone at any age, no matter how healthy they are otherwise.

Dermatosparaxis EDS

Dermatosparaxis EDS is another type of EDS that has been linked to hypermobility. It’s characterized in clinical criteria by thinning of the skin due to excessive stretching. Skin hyperextensibility occurs when the skin stretches beyond its normal range of movement. In dermatosparaxis, there’s a lack of elastin fibers within the dermis layer of the skin which leads to the skin being very thin and weak.

Musculocontractural EDS

Musculocontractural EDS is the least understood form of Ehlers-Danlos Syndrome. It’s characterized by muscle weakness and contracture. Contractures occur when muscles become tight and inflexible. Muscles can become stiff because of overuse, injury, or disease.

Arthrochalasia EDS

Arthrochalasia EDS is a rare type of EDS where the cartilage in the joints becomes loose and rubs against bone. The arthrochalasia type most commonly results in painful arthritis.

Myopathic EDS

Myopathic EDS is the most severe type of Ehlers-Danlos syndrome. Myopathy refers to muscle weakness. People with myopathic EDS don’t have any elasticity in their skin or joints. They often suffer from chronic fatigue, muscle pain, and muscle cramps.

Kyphoscoliosis EDS

Children with Kyphoscoliosis EDS tend to have more severe EDS at birth, as well as delayed motor development. Typically, people with this form of EDS suffer from scleral fragility as well as progressive scoliosis.

What are the symptoms of EDS?

Symptoms of Ehlers-Danlos Syndrome can vary widely from person to person. Some people may experience only mild symptoms, while others may have life-threatening complications. The severity of a person’s symptoms depends on the type of EDS they have, which is determined by their genetic variability. Common symptoms include:

Joint Dislocation

Patients with Ehlers-Danlos Syndrome Hypermobility Type often experience joint dislocations, which can cause extreme discomfort and pain. Joints become loose over time due to increased flexibility, making it easy for them to move out of place.

Skin Bruising 

Bruises are a common symptom of Ehlers-Danos Syndrome. This is because the skin has an abnormally high amount of collagen, causing it to be more prone to tearing.

Scoliosis

Ehlers-Danlos Syndrome patients may also develop scoliosis, or abnormal curvature in their spine. Scoliosis occurs when the vertebrae in your back curve inward. It usually starts at around age 10 and continues throughout adulthood. 

Chronic Pain

Some people with Ehlers-Danlos syndrome report that they feel chronic pain in their joints and muscles. Chronic pain is defined as pain lasting longer than three months.

Tendon Tearing

People with Ehlers-Danlo’s Syndrome tend to tear their tendons easily. Tendons connect muscle groups to bones, allowing us to use our limbs. They’re made up of tough fibers called collagen, which helps keep them flexible. When there’s too much collagen, however, they become weak and can break.

Vascular Complications

People who have Ehlers-Danlos Syndromes, in particularl the vascular type, are at risk for developing blood vessel problems. These problems can include bleeding into the eyes, nose, mouth, ears, vagina, rectum, or urinary tract. Bleeding can occur from minor injuries like cuts or bruises.

Skin Hyperextensibility 

One of the most noticeable signs of Ehlers-Danlo Syndrome is skin hyperextensibility. Skin hyperextensibility means that the skin stretches very far before breaking. People with Ehlers-Danlors Syndrome typically have skin that stretches about twice its normal length.

EDS and the Genes – Family History and Inheritance

There is no one cause of Ehlers-Danlos Syndrome. It is a result of a variety of different factors such as genetic mutations in the inheritance patterns, problems during fetal development, and injuries.

Inheritance of EDS occurs through two main ways:

• autosomal dominant inheritance – the faulty gene that causes Ehlers Danlos Syndrome is inherited from one parent and there’s a half chance of each child having the condition.
• autosomal recessive hereditary kyphoscoliosis (EDS) – In this version of the hereditary disorder, the faulty gene is inherited from either parent and there’s a 25% chance of each child having the condition due to the recessive pattern.

Severity varies from person to person. Also note that someone with vascular EDS can’t pass on kyphoscoliosis, for example. Genetic features also vary from person to person, so it’s important to look at EDS on a case by case basis to identify the specific needs of the individual.

How Is EDS Diagnosed?

A clinical diagnosis for someone with Ehlers-Danlos Syndrome depends on the type of syndrome and the individual. Some people with the condition experience only minor symptoms, while others may have more serious symptoms that require ongoing treatment or genetic testing.

The clinical description is not as cut and dry as it may seem, because there are many variables that come into play. A clinical diagnosis can be difficult because symptoms vary widely in severity among those with EDS, but it’s always worth asking a professional for advice.

Genetic testing is available for anyone wanting to check to see if genetic features and links exist, especially in those who have grown up without knowing their family medical history of one or both biological parents. There are in fact characteristic facial features that provide visible clues too. Common features include large eyes, sunken cheeks and thin nose and lips, making a clinical diagnosis easier to achieve. A skin biopsy may also detect a thinned dermis in less obvious cases.

How is EDS Treated?

There is no cure for Ehlers-Danlos Syndrome, but medical professionals work to manage the symptoms and prevent future health risks. Some treatments include:

• A physiotherapist can teach you exercises to help improve your joint health, prevent injury, and manage pain through physical therapy and exercises.
• An occupational therapist can help you manage daily activities and provide advice on equipment that may help you.
• If you’re struggling to cope long-term with chronic pain, counselling and cognitive behavioural therapy may be helpful.
• For some types of EDS, routine scans carried out in hospitals can detect problems with internal body organs.
• Genetic counseling can help you learn more about your condition and how it’s inherited. Genetic counseling looks deeper into your own personal family history and what the risk is of passing it on to future generations, and how this can relate to other hereditory conditions at play.
• Joining an Ehlers-Danlos Support Group can be another great way of meeting like-minded individuals for emotional support.
• Surgical procedures can prove a last resort for some extreme cases, but aren’t always guaranteed to work and surgical complications may occur.

EDS Doesn’t Have To Hold You Back

Despite the debilitating properties of Hypermobility Spectrum Disorders such as Hypermobile EDS causing much pain from joint pain to musculoskeletal pain, you’ll be pleased to hear that a clinical diagnosis of Ehlers-Danlos Syndrome typically allows for a normal lifespan.

With the right help and support there’s no reason you should let Ehlers-Danlos Syndrome overcome your life. The world is more accessible than ever online to build a career doing something you love and feel passionate about!

Keep reading for more content that’ll help inspire you to succeed no matter what gets in your way!