Have you ever noticed that your joints bend more than your friends, or that you stretch a little more than your friends? Or do you get a big bruise when you hit a small spot? While you may think these things are normal, it could be due to a condition we haven't heard much about called Ehlers-Danlos Syndrome (EDS). Don't worry, let's talk about it in a simple way.
Simply put, what is Ehlers-Danlos Syndrome (EDS)?
Ehlers-Danlos Syndrome (EDS) is a genetic condition that affects our bodies. It causes the connective tissues that hold our bodies together weaken. Think of it like the glue that holds things like our bones, cartilage, and blood together. In someone with EDS, this glue is weak.
This can cause your joints to become loose, your skin to become thin and bruise easily, and sometimes even your blood vessels and internal organs to become weak. Although there is currently no cure for this, you can manage your symptoms well and live a normal life.
What are the main types of EDS?
It is named after the two doctors who first described the disease, Ehlers and Danlos. There are currently 13 main types of the disease. Although each type is slightly different, they all share a common cause: weakening of the joints and skin. Let's take a look at the main types.
| EDS Type | Main features and description |
|---|---|
| Hypermobile Ehlers-Danlos syndrome (hEDS) | This is the most common type. The joints bend excessively. This can lead to frequent sprains and dislocations. It can also cause long-term muscle and bone pain. |
| Classical Ehlers-Danlos syndrome (cEDS) | In this type, the skin is very thin, incredibly elastic, and very fragile. The skin on the knees and elbows is easily injured and scarred. Joint sprains, flat feet, and heart valve problems can also occur. |
| Vascular Ehlers-Danlos syndrome (vEDS) | This is a less serious, but very rare type. In this condition, the body's blood vessel network weakens, putting blood vessels and internal organs (e.g., intestines) at risk of rupture. |
| Other rare varieties | There are other rarer types, such as Kyphoscoliotic (kEDS) and Arthrochalasia (aEDS). These can have specific features such as scoliosis, hip dislocation at birth, and eye problems. |
What are the common symptoms of EDS?
Symptoms can vary depending on which type of EDS you have, but these are some of the common symptoms that most people experience:
- Overly flexible joints: Imagine if you can bend your big toe and touch it to the underside of your hand, or if you can bend your knees back, that's a sign of this.
- Stretchy skin: Can you stretch your skin away from your body and then let it go, and it snaps back into place like a rubber band? The skin may even feel very soft, like velvet.
- Bruising easily: The skin is very fragile. Even a small bump can cause a large bruise, scarring, and wounds that take a long time to heal.
The important thing is, don't assume that you have EDS just because you have one or two of these symptoms. But if you have several of these symptoms, it's best to talk to a doctor.
Other visible features
In addition to these main features, you can also see things like:
- Dental problems (crooked teeth, bleeding gums)
- Joint pain
- Feeling tired even after sleeping well
- Trouble focusing
- Headache
- Flat feet
- Muscle weakness, especially in cold weather
- Difficulty controlling urine
- Dizziness
- Digestive system problems such as bloating and gastritis
Symptoms that can be seen in young children
If some children have EDS, you may also see certain things in their development.
- Delay in motor skills such as sitting, standing, and walking.
- Not having a height or weight appropriate for age.
- In some rare breeds, specific facial features (large eyes, small chin, thin nose) can be seen.
Why does EDS occur?
Simply put, EDS occurs when a protein called collagen in our body is not produced properly. Collagen, as I mentioned earlier, is the "glue" that holds our bones, skin, and organs together. When the strength of this glue decreases, everything that is connected becomes weak and does not work properly.
EDS is a genetic disorder . This means that it can be passed down from parents to children. If your mother or father has the condition, you have a higher chance of getting it too. However, sometimes, a new person can develop the condition without anyone in the family having it.
How does a doctor diagnose this?
When you go to see a doctor about these symptoms, he will first do a physical examination.
- Joint examination: This will check how far you can bend your knees, elbows, and fingers. Can you touch your thumb to the underside of your hand? Can you bend your little finger more than 90 degrees?
- Skin examination: Checks for skin tightness, bruising, and scars.
- Family history: You will be asked if you or anyone in your family has had these symptoms before.
Most of the time, the doctor can get an idea from this test alone, but sometimes more tests may be needed to confirm the condition.
Tests to confirm
- Genetic testing: A blood sample can be taken to see if there are certain gene mutations that cause EDS.
- Echocardiogram: If there is a suspicion of a problem with the heart or blood vessels, this painless scan can be done to check the function of the heart.
- CT scan or MRI scan: These types of scans may be needed to see if there is any effect on the spine, nerves, or internal organs.
- Skin biopsy: A small piece of skin is taken and examined under a microscope to check for abnormalities in collagen.
How is it treated and managed?
Once you've identified which type of EDS you have, you can manage the symptoms associated with it. You may need help from a variety of specialists to do this. For example:
- Orthopedist
- Dermatologist
- Rheumatologist
- Cardiologist
Treatment options may include:
- Physical therapy: Exercise and physical therapy are very important to strengthen muscles and reduce joint stiffness. Simple exercises like walking and swimming are very good.
- Occupational therapy: Teaches you the techniques and equipment needed to perform daily tasks easily and without harming your body.
- Assistive devices: Wearing braces for joints, and using devices such as a wheelchair if necessary.
- Painkillers: You can take painkillers prescribed by your doctor for joint pain.
- Surgery: If other treatments fail to control the condition, surgery to repair the joints is performed. However, because people with EDS often have delayed wound healing, this is considered a last resort.
Things to consider when living with EDS
EDS is a lifelong condition, so it's important to learn to live with it.
- Protect your skin: Use mild soaps. Always apply sunscreen when going out in the sun. Wear protective pads on your knees and elbows.
- Avoid high-impact sports: Avoid running, jumping, and contact sports. Avoid lifting heavy objects.
- Take care of your teeth: Use a toothbrush with soft bristles.
- Mental health: Living with this condition can be emotionally draining, so seek help from a counselor or join a support group with like-minded people.
If you are thinking about starting a family, you can seek the help of a genetic counselor to learn about your risk of having a child inheriting this condition.
Take-Home Message
- Ehlers-Danlos Syndrome (EDS) is a genetic condition that weakens the body's connective tissues.
- The main symptoms are excessive bending of the joints, skin stretching, and easy bruising.
- Although there is no complete cure for this, symptoms can be very well managed through physical therapy, medication, and lifestyle changes.
- If you have these symptoms, don't be afraid to see a doctor for advice. Correct diagnosis and management are the key to a healthy life.
- You can live a normal life with most types of EDS. The most important thing is to work closely with your medical team.
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