What Is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome (EDS) refers to a group of 13 different connective-tissue disorders that involve a genetic mutation in collagen and connective-tissue production and structure. Connective tissues are those that comprise and support the skin, blood vessels, bones, and other organs.
What Are Signs and Symptoms of Ehlers-Danlos Syndrome?
Symptoms and signs of Ehlers-Danlos syndrome include the following:
- Loose and overly flexible joints
(hypermobility)
- Shoulder dislocation is often an early sign
- Stretchy skin (hyperextensibility)
- Easy bruising
- Thin, fragile skin
- Cuts occur easily
- Cuts take longer to heal
- Healed cuts can leave abnormal-looking scars
- Dizziness on standing
- Urinary incontinence
- Diarrhea
- Poor postural control
- Generalized pain
- Fatigue
- Muscle weakness
- Tendency to fall easily
- Difficulty walking (sometimes)
Some types of Ehlers-Danlos syndrome can cause serious problems such as
- heart problems (uncommon, occurs with the vascular type of the disease) and
- a rupture or tear inside the body (only a risk with certain types of EDS).
What Causes Ehlers-Danlos Syndrome?
Genetics cause most kinds of Ehlers-Danlos syndrome. People usually inherit an abnormal gene from one or both parents, but in some cases, the abnormal gene occurs on its own.
How Do Doctors Diagnose Ehlers-Danlos Syndrome?
Often, a medical history and physical examination are all a doctor needs to make a diagnosis of Ehlers-Danlos syndrome. Genetic testing can confirm the diagnosis.
Other tests that may be indicated include the following:
- Magnetic resonance imaging (MRI) study of the hypermobility type
- Echocardiogram for the heart
- For type IV, polymorphic restriction genetic studies may be performed prenatally
- For type VI, lysyl hydroxylase (LH) levels in amniotic fluid may be used to predict pregnancy outcomes
What Is the Treatment for Ehlers-Danlos Syndrome?
There is no treatment for Ehlers-Danlos syndrome, but people may manage the condition with medications to alleviate symptoms and reduce the risk of complications.
Medications for Ehlers-Danlos syndrome include the following:
- Pain medications for joint and muscle pain
- Acetaminophen (Tylenol)
- Nonsteroidal anti-inflammatory drugs (NSAIDs) such as aspirin, ibuprofen (Advil, Motrin), and naproxen (Aleve)
- Use NSAIDs with caution in people whose skin bruises easily.
- Vitamin C (ascorbic acid) helps with collagen synthesis and tissue repair.
Other medical management for Ehlers-Danlos syndrome include
- physical therapy to safely strengthen muscles and joints;
- braces, shoe inserts, or canes can help support joints;
- counseling or support groups to help with coping; and
- seeing a cardiologist (doctor who specializes in heart problems) regularly.
What Are Complications of Ehlers-Danlos Syndrome?
Complications of Ehlers-Danlos syndrome include the following:
- Increased risk for developing depression, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorders, and obsessive-compulsive disorder (OCD)
- Risk of bleeding during surgery
- Getting cuts and bruises easily
- Pregnancy may be dangerous for some patients.
What Is the Life Expectancy of Someone With Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome typically progress slowly, and the prognosis depends upon the type of EDS and the severity of the condition.
Patients with the classical and hypermobility forms of Ehlers-Danlos syndrome have a normal life expectancy.
About 80% of patients with vascular Ehlers-Danlos syndrome will experience a major health event by age 40 and the life expectancy is shortened, with an average age of death of 48 years.
The lifespan of patients with the kyphoscoliosis type of EDS is decreased, due to the condition's effects on the vascular system and the potential for restrictive lung disease.
