Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is a genetic disorder that causes problems in the connective tissues of the body. Connective tissues are elastic and tough and found throughout the body, especially in the bones, muscles, skin, joints and blood vessel walls.

In Ehlers-Danlos syndrome, there is a mutation in the genes causing abnormalities in the connective tissues of the body. A person with Ehlers-Danlos has features like stretchy, fragile skin and overly flexible joints.

Vascular Ehlers-Danlos syndrome is a more severe form of the condition wherein there are problems in the connective tissues in the organs such as blood vessels, intestines or uterus. This can cause them to rupture and cause serious medical problems.

Ehlers-Danlos is an inherited disease. Patients may need to be referred to a genetic counselor before making a decision on having children.

Ehlers-Danlos syndrome can cause the following signs and symptoms:

• Having overly flexible joints – this is due to problems in the connective tissues connecting the bones. You may be able to bend your fingers more backward than most can do, or be able to touch your nose with your tongue.
• Unusually stretchy skin – the skin contains plenty of connective tissue. Therefore, Ehlers-Danlos syndrome patients tend to have highly elastic skin. Most patients tend to have soft and unusually velvety skin.
• Fragile skin – this causes your skin to sustain cuts more easily and take significantly more time to heal. This makes procedures like putting stitches difficult because they tend to tear and leave gaping scars.

Many patients do not have all these symptoms. Some only have very bendable joints but have no fragile or velvety skin.

Individuals with vascular Ehlers-Danlos syndrome tend to have certain facial features like thin nose, thin upper lip, small earlobes and somewhat prominent eyes. The skin tends to be fragile and translucent that the underlying blood vessels are easily seen in fair individuals.

The condition has a severe effect on the cardiovascular system, causing increased risk of rupture of the aorta (the largest artery in the body) and arteries in the kidneys and spleen. It also causes weakness of the connective tissues of the uterus and intestines, making them too at risk of rupture.

Ehlers-Danlos syndrome is caused by mutations in genes, causing the connective tissue to develop abnormally.

These genes are inherited, so a parent with the condition has 25% to 50% of passing the condition to his or her child.

You may first go to your doctor, and if the doctor suspects Ehlers-Danlos syndrome, you may be referred to a specialist that handles genetic conditions to receive a diagnosis.

Meanwhile, you can do some measures to improve your care:

• List of your symptoms, medications and supplements you take regularly
• Do try to determine if your parents, siblings or grandparents have experienced symptoms too.
• Determine if any of your relatives died from a rupture of an organ or blood vessel.

During appointment, your doctor might ask you questions about the following:

• If you have very flexible or highly mobile joints.
• If your notice that your skin is stretchy.
• If you have poor healing of wounds and injuries.

There is no procedure or medication to treat connective tissue problems caused by Ehlers-Danlos syndrome.

However, the doctor may prescribe medicines to relieve symptoms and reduce risk of complications:

• Over-the-counter pain relievers like ibuprofen (Advil, Motrin IB) and naproxen sodium may work to relieve muscle pain and joint discomfort. If these medications fail to produce relief, the doctor may prescribe stronger medications.
• Antihypertensive medications are prescribed to reduce blood pressure. Ehlers-Danlos syndrome may cause blood vessels to become weak, and antihypertensives may help lower blood pressure to reduce the risk of rupture.

In rare cases, patients with Ehlers-Danlos syndrome who sustained repeated joint dislocations may require surgery. This is only indicated for few cases because the skin and connective tissue around the joints heal poorly.

Aside from medications and surgery, doctors often prescribe physical therapy to patients to exercise muscles around joints affected by Ehlers-Danlos. Stronger muscles mean better stability of joints.

If needed, physical therapists may recommend you wear specific joint braces to prevent dislocation of the joints.

There is no way to prevent Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome is an inherited condition, and there is good chance that you can pass on to children and grandchildren.

If you have it or have a family history of it, you may consider talking to a professional called a genetic counselor – an expert in assessing the risk of inherited disorders.

Lifestyle modifications are necessary in order to manage the symptoms of Ehlers-Danlos syndrome.

Most patients with Ehlers-Danlos syndrome are able to live a normal life, and if symptoms are controlled, have a normal lifespan. Having Ehlers-Danlos syndrome means you have to be careful to prevent injuries or cuts.

Here are things you can do to protect yourself:

• Take up regular exercise or sports, which is good for the heart for blood pressure levels. However, you have to choose low-impact and non-contact sports to avoid injuries and reduce stress on your joints. This means no weightlifting, running, basketball and similar sports, or step aerobics.
• Rest your jaw by avoiding chewing gum, hard rolls or chewing ice. During dental work, have frequent breaks to close your mouth.
• Avoid collapsed lung by not playing reed or brass musical instruments. Take advantage of your flexible hands by playing string instruments like guitar, piano or violin instead.

You do not need to live with the fear of ruptures or joint problems as long as you take medications and have regular checkups.

There are several risks and complications associated with Ehlers-Danlos syndrome

Ehlers-Danlos syndrome causes problems in connective tissues. Therefore, complications tend to occur on parts of the body with plenty of connective tissue like joints, skin and blood vessels.

Too flexible joints may lead to joint dislocations and arthritis at an early age. The too fragile skin may heal more slowly and therefore increase the risk of scarring.

Vascular Ehlers-Danlos cause weakness of blood vessels, making them prone to ruptures that can lead to massive internal bleeding and death. The major blood vessels, which tend to have highest internal pressures are particularly at risk. The intestines and uterus are affected as well.

The small and large intestines may be at risk for rupture. The uterus may also be at risk during pregnancy.