Ehlers-Danlos Syndrome (EDS) is a hereditary disease that affects connective tissue in the body. This disease causes interference with the strength and flexibility of tissues in the body, such as skin, joints, blood vessels, and internal organs.
In addition to the skin and joints, other parts of the body such as the eyes, teeth, digestive tract, blood vessels, and heart valves can be affected. Because this disease is caused by several genetic disorders, Ehlers-Danlos syndrome can cause a disruption in collagen production.
The following are 6 main types of Ehlers-Danlos Syndrome:
Each type is affected by disruption in different tissues. However, there are things that make all types look the same, namely hypermobility. There is hypermobility (excessive movement) in the joints. Meanwhile, the rare type is dermatosparakisis which only affects a few dozen children throughout the world.
Different types of Ehlers-Danlos syndrome are related to various genetic causes, some of which are passed on from parent to child. If you have the most common variety of Ehlers-Danlos syndrome, there is a 50 percent chance that you will pass on the gene to each of your children.
Meanwhile, people who have vascular Ehlers-Danlos syndrome are at risk of fatal damage to the main blood vessels. Some organs such as the uterus and intestine are at risk for rupture. In addition, women who are pregnant also experience a higher risk.
Causes of Ehlers-Danlos Syndrome
EDS is an inherited condition, while several other cases are not inherited, but occur due to spontaneous gene mutations. Disorders of the following genes cause EDS.
The following genes that influence collagen production: ADAMTS2 genes, COL1A1, COL1A2, COL3A1, COL5A1, COL6A2, PLOD1, and TNXB genes. Disruption of these genes will weaken the process and formation of collagen. Collagen is formed from molecules which later provide structure in the body.
Symptoms of Ehlers-Danlos Syndrome
Parents are often the ‘silent carriers’ of the genes that cause EDS. That is, parents will look like healthy people and have no symptoms or signs of EDS, but it turns out the affected child can get EDS.
Common EDS symptoms include:
- Connection is too flexible. Because the connective tissue that joins the joints becomes looser, your joints can move far beyond the normal range of motion. Joint pain and dislocation can often occur.
- Stretchy skin. Weakened connective tissue allows your skin to stretch more than usual. You might be able to pull the skin wider than usual, and the skin will immediately return to its place when you release it. Your skin may also feel very soft.
- Brittle skin. Damaged skin often does not heal properly. For example, the stitches used to close a wound will often tear and leave a gaping scar. These scars may look thin and wrinkled.
- Eyelid is too excessive.
- Muscle ache.
- Benign tissue growth in areas with a lot of emphasis (such as elbows and knees).
Meanwhile, the symptoms of EDS hypermobility are:
- Easy bruising
- Chronic degenerative joint disease
- Muscle weakness
- Early osteoarthritis
- Chronic pain
- Having heart valve problems
Whereas the symptoms of vascular EDS are:
- Thin skin with clearly visible blood vessels.
- The blood vessels are fragile and break easily, resulting in bleeding.
- The intestine and uterus become tear easily. This is dangerous for women who are pregnant.
- Abnormalities in the shape of the face, such as a thin nose and lips, and large eyeballs and soft parts of the auricle.
Ehlers-Danlos Syndrome diagnosis
A series of tests can be used to diagnose EDS. Examinations include genetic testing, skin biopsy, and echocardiogram. For genetic testing, blood samples are taken from the arm and tested for mutations in certain genes. DNA testing can confirm if there are gene mutations in the embryo/fetus.
Meanwhile, echocardiogram tests use sound waves to make moving images of the heart. This test will show whether there are abnormalities or not.
The next test is a skin biopsy. This method is used to check for signs of abnormalities in collagen production. This is done by taking a small sample from the skin and examining it under a microscope.
Ehlers-Danlos Syndrome Treatment
There is no drug that can treat EDS, but the treatment can help reduce symptoms and prevent complications. EDS treatment options can be done through drugs to reduce pain and prevent the rupture of brittle blood vessels.
Apart from drugs, EDS treatment can also be done by:
- Physical therapy (used to rehabilitate those with joint and muscle instability).
- Surgery to repair damaged joints.
Prevention of Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome cannot be prevented because it is caused by genetic disorders. Nevertheless, sufferers can still live healthy and safe by following these steps:
- Avoid sports like boxing, judo, taekwondo, or sports that involve physical contact.
- Avoid lifting heavy loads.
- Use sunscreen to protect the skin.
- Avoid soaps that cause allergic reactions.
- Use assistive devices to minimize pressure on the joints.
Complications of Ehlers-Danlos Syndrome
Complications depend on the type and symptoms you have. For example, joints that are too flexible can cause joint dislocation and early onset arthritis. Brittle skin can cause prominent scarring. In addition, another complication of EDS is that you will experience slow wound healing.