Ehlers-Danlos Syndrome: What Is It?
There are many different types of EDS, but overall the condition affects about 1 in 5,000 people. The most common types are hypermobile and classical forms. Other forms are rare, often with few cases published worldwide.
This article explains what EDS is and what its types can entail. It also details the causes, symptoms, diagnostic process, and treatment options associated with EDS.
The gene mutations that happen due to EDS usually change the structure and production of collagen or proteins in your body. This can weaken connective tissues in your skin, blood vessels, bones, and organs.
Some common symptoms of EDS include:
- loose joints
- fragile, small blood vessels
- unusual scar formation and wound healing
- soft, velvety, stretchy skin that bruises easily
However, the symptoms of EDS can vary from type to type.
Healthcare professionals classify EDS into 13 different subtypes. The type you have is based on your symptoms and the genes the condition affects.
The more common types of EDS include:
- Hypermobile: This is the most common and least severe type of the condition. People have very loose joints and chronic joint pain.
- Classical: This type involves extremely stretchy, smooth skin that is fragile and bruises easily. It can also cause wide, atrophic (flat or depressed) scars and joint hypermobility.
- Vascular: This is a severe type of EDS, causing thin, translucent skin that is extremely fragile and bruises easily. It can also cause the walls of the blood vessels, intestines, and uterus to rupture.
Some less common types of EDS include:
- Arthrochalasia: This causes congenital hip dislocation.
- Dermatosparaxis: This causes severely fragile skin and significant bruising.
- Kyphoscoliosis: This causes curvature of the spine.
- Brittle cornea syndrome: This causes thinning of the cornea and other anomalies.
- Classical-like: This is extremely rare and lacks the scarring feature of the classical type.
- Spondylodysplastic: This causes skeletal irregularities, such as bowed limbs.
- Musculocontractural: This causes muscle anomalies, such as low muscle tone and deformed, bent, or rigid joints.
- Myopathic: This causes muscle atrophy or weakness.
- Periodontal: This causes dental problems, such as periodontitis.
- Cardiac-valvular: This is a severe form involving serious problems with one or more of the valves in the heart.
EDS is a genetic, inherited disorder. It can occur due to mutations in different genes, though the underlying genetic cause in your family may be unknown. The parents of someone with EDS (known as “carriers”) usually carry one mutated copy of the gene each. They typically do not show any signs or symptoms of the condition.
Your inheritance pattern depends on the type of EDS you have. If you have the arthrochalasia, classical, hypermobile, or periodontal type — or, in some cases, the myopathic or vascular type — you likely have an autosomal dominant pattern. This means that the mutation is only in one copy of the mutated gene.
If you have the dermatosparaxis, kyphoscoliosis, classical-like, cardiac-vascular, brittle cornea, spondylodysplastic, or musculocontractural type — or, in some cases, the myopathic type — you have inherited an autosomal recessive pattern. This is a mutation in both copies of the mutated gene.
A child of parents with autosomal recessive EDS has:
- a 25% risk of the condition
- a 50% risk to be a carrier, like the parents
- a 25% chance of not having EDS and not being a carrier
Getting a proper diagnosis is the first step in developing a good treatment plan with your doctor.
Since EDS is a genetic condition, the diagnosis will be based on a physical exam and medical and family histories. Depending on your type of EDS, your doctor may also recommend genetic testing (most often done with a blood sample).
Currently, there is no cure for EDS, but there are many treatment options that can help improve the symptoms. Your outlook will depend on the type of EDS you have.
The vascular type is typically the most severe, and it is often associated with a shortened life span. People with the kyphoscoliosis type may also have a decreased life span.
Other forms of EDS are not usually as dangerous, and most people can live healthy lives with a typical life span, sometimes involving additional steps to manage the condition.
There are many things you can do to help prevent complications and improve your quality of life with EDS. Since the condition affects people in different ways, your doctor will tailor your treatment to your specific condition and needs.
Options may include:
- physical therapy
- low resistance exercises
- assistance devices, such as braces, wheelchairs, or scooters
- medications for pain management
- calcium and vitamin D to maximize bone density
- protective bandages for exposed areas of the skin
The following are some other frequently asked questions about EDS.
How do you know if you have Ehlers-Danlos syndrome?
If you have soft, velvety, stretchy skin that bruises easily, you may have EDS. You may also notice loose joints, unusual scars, or wounds that do not heal well.
Is Ehlers-Danlos syndrome serious?
The signs and symptoms of EDS can range from mildly loose joints to life threatening complications. Depending on your type of EDS, these may lead to issues such as bleeding problems, difficulty breathing, or a stroke.
At what age is Ehlers-Danlos syndrome usually diagnosed?
People may notice signs and symptoms of EDS during childhood. However, people’s age at diagnosis varies widely depending on the type and severity of the condition.
Is Ehlers-Danlos syndrome an autoimmune disease?
Does Ehlers-Danlos syndrome get worse with age?
Many of the problems associated with EDS may get worse over time.
What is the life expectancy for someone with Ehlers-Danlos syndrome?
The outlook for people with EDS varies by type. For example, people with more severe forms of EDS may have a shortened life expectancy, while those with other forms can have regular lives and life spans.
EDS is a genetic disorder with 13 subtypes that can affect your skin, blood vessels, bones, and organs.
Although the symptoms range from mild to severe, there are many things you can do to manage your condition and help prevent complications.
Talk with your doctor about your specific type and needs, and ask for advice on how you can lead a full, healthy life with EDS.