What Is Ehlers-Danlos Syndrome?
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Medically reviewed by Laura Campedelli, PT
Ehler-Danlos syndromes (EDS) are a group of rare genetic diseases that cause highly elastic and weak skin, unusual joint movement range, and hyper fragility of blood vessels, bones, and other organs in the body. These symptoms are caused by genetic defects in collagen, a protein that is responsible for building many of the body’s structures like skin, ligaments, blood vessels, bones, and eyes.
Most cases of EDS involve the skin, bones, muscles, and blood vessels. The production of deficient or low amounts of collagen caused by EDS can lead to many complications including problems with healing wounds, frequent joint dislocation due to hyper-flexible and weakened joints, extreme bruising, and prolonged bleeding.
The incidence of EDS ranges widely. More common types can be found in as low as 1 in 5000 births, while rarer types can be found as high as 1 in 40,000 births.
Types of Ehlers-Danlos Syndrome
Most types of Ehlers-Danlos syndrome cause skin fragility, joint hypermobility (when your joints are too flexible), and chronic pain. The different types of EDS are defined by what parts of the body are most affected, the severity of symptoms, and how rare the type of EDS is. Some EDS types are:
Hypermobile EDS: A type of EDS that causes severe joint hypermobility which leads to chronic pain and frequent joint dislocation in shoulders, knees, and jawbones. This is the most common type of EDS.
Classical EDS Type I and II: Classical EDS is defined as mild joint hypermobility and stretchy, fragile skin that can break easily and experience abnormal healing. Type I and II are differentiated by how severe the symptoms are and how often they happen.
Classical-like EDS Type I and II: People diagnosed with classical-like EDS experience similar symptoms to those with classical EDS with some slight differences. People diagnosed with classical-like EDS type I have normal wound healing, while those with classical-like II experience some bowel rupturing and abnormal wound healing.
Vascular EDS: This is a life-threatening type of EDS that causes spontaneous blood vessel ruptures. Approximately 80% of people diagnosed with vascular EDS experience rupture of an internal organ by age 40.
Kyphoscoliotic EDS Type I and II: This is a type of EDS that affects newborns and is associated with weak muscle tone, weak joints, and respiratory complications that can require surgery. Those diagnosed with type II kyphoscoliotic EDS experience all the characteristics mentioned above plus joint hypermobility, elastic skin, and hearing loss.
Arthrochalasia EDS: This type of EDS causes very fragile skin, frequent hip dislocations, shrinking of limbs, and short stature. This is one of the rarer forms of EDS.
Dermatosparaxis EDS: This is a type of EDS that is mostly related to skin complications. People with EDS experience severe skin fragility, excessive skin, hernias, and skin with a doughy or velvety texture.
Brittle cornea EDS: A type of EDS that affects the eyes. This type can cause severe ruptures in the cornea (the layer that forms the front of eyes) and sight deficiencies like myopia (nearsightedness).
Ehlers-Danlos Syndrome Symptoms
Ehlers-Danlos syndrome symptoms vary based on the type you have. However, there are some hallmark symptoms that are common in most EDS types. Some of the major symptoms of EDS are:
Unusually large range of joint movement (hypermobility)
Unstable joints and joint dislocation
Weak muscles (hypotonia)
Chronic pain
Soft, velvety, skin that is fragile, and/or elastic (skin hyperextensibility)
Translucent skin
Loose skin that sags or wrinkles
Blood issues that result in bruising and slow or abnormal wound healing
Scars that widen over time
Causes
Ehlers-Danlos syndrome is caused by gene mutations that are involved in the production and processing of collagen. Mutations in genes like COL5A1, COL5A2, and TNXB cause the more common types of EDS like classical EDS and hypermobility EDS.
These genetic mutations are passed down during childbirth. Because of this, family history is a major risk factor in developing EDS.
In some rare cases, mutations in EDS related-genes result from a “de novo” mutation, a random mutation that occurs in the egg or sperm and is not an inherited mutation from a parent.
Because collagen is such an important component in developing healthy skin, bones, blood vessels, and other organs, defective collagen production due to gene mutations severely affects the strength and structure of these body parts. This leads to the symptoms of EDS.
Diagnosis
An Ehlers-Danlos syndrome diagnosis is suspected when a person presents a combination of the characteristic symptoms of the disease. To reach a diagnosis, your healthcare provider will perform a physical exam to check how flexible your joints are and determine if you have joint hypermobility.
Joint hypermobility is examined using the Beighton hypermobility scale. Your healthcare provider will request that you perform a variety of movements, including bending your hips, knees, and waist, which will determine if your degree of flexibility can be classified as “hyperflexible” on the scale.
Your healthcare provider may also ask some of the following questions during the Beighton hypermobility scale test:
Can you now (or could you ever) place your hands flat on the floor without bending your knees?
Can you now (or could you ever) bend your thumb to touch your forearm?
As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits?
As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion?
Do you consider yourself ‘double-jointed’?
Your healthcare provider will also test your skin to check for skin hyperextensibility, which is how stretchy your skin can be. Skin that can stretch 1.5 to 4 centimeters or more (depending which neutral point in your body is being tested) is considered “hyperextensible.”
Additionally, your healthcare provider may refer you to a geneticist (a scientist who specializes in genetic and genetic testing) and order blood tests to confirm what type of EDS syndrome is present.
Treatment and Management of Ehlers-Danlos Syndrome
Because there is no cure for Ehlers-Danlos syndrome, the treatment of this disease is focused on the management of symptoms to prevent any potential life-threatening complications.
Avoid Physically High-Stress Activities
It is best to avoid activities that put too much stress on your joints. These can include heavy weightlifting, running, wrestling, and more. Swinging a club or a bat (such as during softball, baseball, golf, or cricket) can cause joint dislocations, so they generally are not recommended.
Physical Therapy and Low-Impact Exercises
Physical therapy is often recommended for people with EDS. Physical therapists can help develop treatment regimens that can help build muscle while involving exercises that are low-impact. Exercises like walking, swimming, bike riding, and water aerobics are appropriate for people with EDS.
Wound Management
People with EDS sometimes have issues with curing wounds on the skin. Because of this, when treating a wound for a person with EDS, healthcare providers might suggest adding more stitches that are usually required for a particular wound or leaving in stitches for a longer time in order to prevent the wound from opening up again.
Related:Here’s How To Tell if You Have an Infected Cut—and What To Do About It
Managing Your Blood Pressure
High blood pressure can stress your blood vessels and increase the likelihood of vessel ruptures and internal bleeding. Maintaining low blood pressure can help you avoid the tearing of blood vessels that can occur in EDS patients due to fragile blood vessels. Regular cardiovascular monitoring with a cardiologist is recommended.
Supportive Devices
Your healthcare provider or physical therapist can recommend supportive devices that can help you navigate the world around you with less pain and a lower risk of injury due to hypermobility. There are a wide variety of devices available. The best option for you can depend on the type of EDS you have. Some common support devices include wheelchairs, scooters, canes, and braces.
Pain Management
Pain management strategies include the use of nonsteroidal anti-inflammatory drugs (NSAIDs) such as Tylenol (acetaminophen) and Advil (ibuprofen). Always talk to your healthcare provider about how frequently you can use over-the-counter (OTC) pain medications, especially if you are taking other prescription medications. They may prefer that you use a specific OTC drug and can prescribe a stronger prescription medication if needed.
Prevention
Currently, there is no way to prevent the development of Ehlers-Danlos syndrome. If you are concerned about passing on EDS to your children you can discuss genetic testing with a geneticist.
EDS can be passed down during childbirth by a dominant or a recessive inheritance pattern. Genes are passed down in pairs, one from a sperm-donating person and one from an egg-donating person. A recessive inheritance pattern means that the genetic disorder is passed on if a child has two versions of an abnormal gene obtained from their parents. A dominant inheritance pattern occurs when only one version of the abnormal gene is necessary to cause the disease.
Classical, vascular, and hypermobility EDS is inherited by a dominant inheritance pattern. Classical-like, dermatosparaxis, and brittle cornea EDS are passed on by recessive inheritance patterns.
Knowing your family history and discussing it with your healthcare provider can be helpful in determining the likelihood of passing EDS from one generation to another in your family. Discussions with medical professionals can provide people with EDS the necessary education that can empower individualized decision-making and family planning.
Living With Ehlers-Danlos Syndrome
While there is no cure for Ehlers-Danlos syndrome, there are a variety of support options that help you cope with your condition and can improve your quality of life.
This starts with a team of medical professionals who work together to develop treatment plans to manage your EDS symptoms and avoid serious complications. This team can include primary care physicians, physical therapists, geneticists, and nurses.
Patient education is essential for people with EDS. Knowing your disease and being aware of the potential series of complications can help you and your family know when to seek urgent medical attention. A quick signal medical alert device is recommended for people with EDS to help with communicating serious disease complications quickly.
Additionally, psychological support by group or individual therapy is recommended to help discuss and cope with the challenges of living with EDS.
Government organizations like the National Organization for Rare Disorders (NORD) provide financial assistance for medications and insurance premiums for diseases like ESD. Additionally, organizations like the Ehlers-Danlos Society work to help connect people with EDS to support groups, patient education materials, and access to proper medical care.
Frequently Asked Questions
What is the life expectancy of someone with EDS?
The life expectancy for people with EDS is approximately 51 years. This life expectancy carries a wide range (from 10-80 years) and depends on the type of EDS a person has. Lifespans for people with classical and hypermobility EDS are not decreased. Individuals with vascular EDS have a lifespan of approximately 48 years.
Does Ehlers-Danlos syndrome ever go away?
EDS is a life-long condition that currently has no cure.
At what age is Ehlers-Danlos syndrome usually diagnosed?
EDS age of diagnosis varies widely and depends on the severity of symptoms.
Does Ehlers-Danlos syndrome get worse with age?
Yes, generally. EDS symptoms first occur in childhood and increase in severity into adulthood.
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