Ehlers-Danlos syndrome (EDS) is a disease that weakens the connective tissues of your body. These are things like tendons and ligaments that hold parts of your body together. EDS can make your joints loose and your skin thin and easily bruised. It also can weaken blood vessels and organs.
There's no cure for EDS, but the symptoms can often be treated and managed.
Types of EDS
There are several types of Ehlers-Danlos syndrome, but they all make your joints loose and weak and your skin unusually stretchy.
- The most common form of EDS makes your joints bend farther than they should. That makes them more likely to be dislocated or sprained. Up to 1 person in 10,000 may have this form of the illness called the hypermobility type.
- In the classical type of EDS, your skin is smooth, extremely stretchy, and fragile. People with this type often have scars on the skin over their knees and elbows and bruise easily. They also are likely to have sprains, dislocations, or conditions like flat feet as well as problems with a heart valve or an artery. This form of EDS happens in about 1 of every 20,000 to 40,000 people. However, some people may have a mild form of the disease and not know it.
- About 1 person in 250,000 is born with the vascular type of EDS. This type weakens blood vessels and makes your organs more likely to have a tear.
Some of the rare types of Ehlers-Danlos syndrome are:
- Less than 50,000 people in the US have kyphoscoliotic Ehlers-Danlos syndrome. This is when babies are born with weak muscles and bones. They often have unusually long limbs or fingers and a curved spine that gets worse as they grow. They also often have eye problems, like shortsightedness or glaucoma, which is related to too much pressure inside your eye.
- With the arthrochalasia form of EDS, babies are born with their hip joints out of place. Their joints are extremely loose, and they have the same kind of curved spine as those with the kyphoscoliosis type. This disease affects less than 1 in a million people.
- Fewer than 1,000 people in the US have this type of EDS. People with this have extremely soft, doughy skin that is easily bruised and scarred. They also are more likely to have hernias.
EDS happens when your body doesn't make a protein called collagen in the right way. Collagen helps form the connections that hold your body's bones, skin, and organs together. If there's a problem with it, those structures can be weak and more likely to have problems.
EDS is a genetic disorder. That means it's something you get from your parents. If one of your parents has this condition, you're likely to have it, too.
Your doctor will likely start with a physical exam:
- They'll test how far your knees, elbows, fingers, and waist can bend. Can your thumb touch your forearm? Can you bend your pinkie more than 90 degrees?
- They'll pull at your skin to see how far it stretches and look for any scars the illness might have caused.
- They'll ask about your medical history and if you or anyone in your family had symptoms like this in the past.
- If your doctor thinks you might have problems with your heart or blood vessels, your exam might include an echocardiogram, which uses sound waves to make an image of your heart.
- You might get other imaging tests as well. For instance, the doctor might ask for a computerized tomography (CT) scan, which takes X-rays from different angles and puts them together to make a more complete picture. Or they might ask for a magnetic resonance imaging (MRI) scan. This uses powerful magnets and radio waves to make a detailed image.
- Your doctor might also take a biopsy. For that, they'll take a small sample of skin to look for signs of abnormal collagen under a microscope. They might also run chemical tests on the sample to try to find out which type of EDS you may have. Other kinds of tests can show which genes might be causing the problem.
Once your doctor knows which form of EDS you have, you can talk about how to manage your symptoms. You might need to see several kinds of doctors, including:
- An orthopedist, who specializes in joint and skeletal problems
- A dermatologist, who treats skin conditions
- A rheumatologist, who deals with diseases that affect connective tissues
Some treatment options include:
- Physical therapy and exercise to build muscle tone and help coordination. Stronger muscles can make you less likely to dislocate a joint. Helpful exercises can include walking, low-impact aerobics, swimming, or bicycling. Physical therapy is especially important for children with EDS.
- Braces or other assistive devices, like a wheelchair or scooter, to make getting around easier.
- Calcium and vitamin D supplements to help strengthen your bones.
- Over-the-counter drugs to help with joint pain. If those don't help, you may need a prescription medication.
- Women with EDS may need special care if they're pregnant because of possible issues with pain.
Living With EDS
Some things can help make day-to-day life easier:
- Use soft-bristled brushes to brush your teeth.
- Thick pens or pencils can help ease strain on your fingers.
- Wear protective clothing or pads over your knees and elbows to prevent bruising or cuts.
- Avoid contact sports and high-impact exercises like running or skiing
Also, a therapist, counselor, or support group might help you deal better with the changes in your life.