Ehlers-Danlos syndromes (EDS) are a group of inherited conditions that cause abnormal collagen function. They can affect connective tissues that support and structure the skin, joints, bones, blood vessels, and organs.
People with EDS may experience increased joint mobility and have stretchy, fragile skin that’s prone to breaking. Each case of EDS is different, and there’s no singular cure for the condition.
For example, vascular EDS affects the cardiovascular system, whereas dermatosparaxis EDS produces more skin-centric symptoms.
The 13 types of EDS are:
- brittle cornea
Hypermobile and classic are the most common types of EDS.
Your EDS symptoms will vary depending on what type of EDS you have. The severity of symptoms will also be different between people experiencing the same type of EDS.
However, some symptoms are more common across cases than others.
One common symptom of EDS is joint hypermobility, which is when there’s a greater range of movement in a joint than usual. EDS can affect collagen function in the tendons and cartilage in your joints, which can lead to hypermobility. EDS can affect all of the joints in the body.
In mild cases, a person will be able to move joints in a greater range of movement than normal and may experience light pain during activities. In more severe cases, a person may be at a greater risk of joint dislocations and joint instability.
Joint looseness can affect muscle and nerve development in young children.
A lack of collagen in the skin can lead people with EDS to have stretchy, almost elastic skin. Skin elasticity affects all forms of EDS except vascular EDS.
Classic EDS and dermatosparaxis EDS typically affect the skin the most. If you have dermatosparaxis EDS, you may find that your skin doesn’t bounce back as it should, and you may experience loose skin or skin folds.
When living with EDS, you may also find that your skin is fragile. You may be more prone to cuts, bruises, and wounds may heal slowly. As with skin elasticity, this is due to collagen deficiencies in the skin.
People with classic EDS may experience wounds that open with little bleeding and leave visible scars that widen over time. Some people refer to these as “cigarette paper scars.”
Other symptoms of classic EDS include:
- skin that bruises easily
- redundant skin folds on the eyes
- muscle pain
- muscle fatigue
- benign growths on pressure areas, like elbows and knees
- heart valve problems
Symptoms of hypermobile EDS (hEDS)
Hypermobile EDS accounts for around
- loose joints
- easy bruising
- muscle pain
- muscle fatigue
- chronic degenerative joint disease
- premature osteoarthritis
- chronic pain
- heart valve problems
Symptoms of vascular EDS
Vascular EDS primarily affects the cardiovascular system and is a severe health condition. Symptoms of vascular EDS include:
In rare cases a person may develop EDS due to spontaneous mutations in genes involved in collagen function.
Doctors may use a series of tests to diagnose EDS or rule out similar conditions.
These tests can include:
- mobility assessments
- genetic tests
- skin biopsy
To determine the genetic origin, a doctor may take a blood sample from your arm and test it for mutations in certain genes. They may then use a skin biopsy to check for abnormalities in collagen function. This involves removing a small skin sample and checking it under a microscope.
An echocardiogram uses sound waves to create moving images of the heart. This will show the doctor if there are any abnormalities present.
The presentation and symptoms of EDS will vary on a case-by-case basis. As a result, there’s typically no singular treatment for these conditions, and your EDS plan will depend on your symptoms.
Treatment will revolve around minimizing pain, reducing the risk of serious complications, and assisting your day-to-day life.
However, in most instances, a person with EDS will undergo some of the following treatments:
- physical therapy to rehabilitate joints and muscles
- surgery to repair damaged joints
- drugs to minimize pain
Additional treatment options may be available depending on the amount of pain you’re experiencing or any additional symptoms.
EDS is normally a genetic condition, and you cannot prevent it. However, if you have EDS, you may be able to prevent further complications and improve your general quality of life.
The following may help you to manage your condition:
- avoiding contact sports
- avoiding lifting weights
- using sunscreen to protect the skin
- avoiding harsh soaps that may overdry the skin or cause allergic reactions
- using assistive devices to minimize pressure on your joints
Also, if your child has EDS, follow these steps to prevent injuries and protect their joints. In addition, put adequate padding on your child before they ride a bike or are learning to walk.
Complications of EDS may include:
The patient outlook varies between the types of EDS. People with many forms of EDS, such as classic and hypermobile EDS, may see no significant reduction in lifespan. These conditions may affect day-to-day activities but don’t increase the risk of premature death.
However, vascular and kyphoscoliosis EDS do carry a reduced life expectancy. Due to its impact on the cardiovascular system, the median life expectancy of people with vascular EDS is 48 years.
If you suspect you have EDS based on symptoms you’re experiencing, it’s important to visit your doctor. They will diagnose you with a few tests or by ruling out other similar conditions. Your doctor will work with you to develop a treatment plan.