Ehlers-Danlos Syndrome: Causes, Symptoms, Diagnosis, Treatment, Prevention and Complications

The Ehlers-Danlos syndrome, a group of hereditary diseases, affects your connective tissues, particularly your skin, joints, and blood vessel walls. Connective tissue, which is a complicated mixture of proteins and other substances, provides strength and flexibility to the underlying structures in your body.

People with Ehlers-Danlos syndrome often have delicate, stretchy skin and extremely flexible joints. This can be harmful if you need sutures to close a wound because the skin is typically too delicate to support it.

In a more severe form of the disorder known as vascular Ehlers-Danlos syndrome, the uterus, intestines, and blood vessel walls may tear. There are important risks associated with vascular Ehlers-Danlos syndrome, so you might want to consult with a genetic counselor about it.

Causes Of Ehlers-Danlos Syndrome

Numerous genetic factors, some of which are inherited and passed down from parent to child, are linked to various kinds of Ehlers-Danlos syndrome. A 50% probability exists that each of your children will inherit the hypermobile Ehlers-Danlos syndrome gene if you have it.

Symptoms Of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome comes in a variety of forms, however, the following are its most prevalent signs and symptoms:

• Excessive joint flexibility. Because the connective tissue that holds joints together is looser, your joints can move considerably farther than what is regarded as normal. Dislocations and joint discomfort are frequent.
• Stretched skin. Because your connective tissue is weak, your skin can stretch significantly farther than usual. You might be able to pinch a tiny bit of skin away from your flesh, but as soon as you release your grip, it will revert back to its original place. In addition, you might notice how velvety-smooth and soft your skin is.
• Delicate skin. Skin damage frequently doesn't heal well. For instance, it is common for the stitches used to close a wound to tear out and leave a gaping scar. These scars could appear thin and wrinkled.

The intensity of your Ehlers-Danlos syndrome symptoms will depend on the particular kind you have. Ehlers-Danlos syndrome with hypermobility is the most prevalent kind.

Diagnosis Of Ehlers-Danlos syndrome

It is frequently possible to diagnose Ehlers-Danlos syndrome based on extremely loose joints, fragile or stretchy skin, and a family history of the condition. In rarer cases of Ehlers-Danlos syndrome, genetic tests on a blood sample can both confirm the diagnosis and help rule out other conditions. There is no genetic testing available for hypermobile Ehlers-Danlos syndrome, which is the most prevalent type.

Treatment Of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome has no known cure, although medication can help you manage your symptoms and stop subsequent problems.

Medications

You might be given medication by your doctor to help you with:

• Pain. The majority of treatment is non-prescription painkillers including acetaminophen, ibuprofen, and naproxen sodium. Only severe injuries are treated with stronger drugs.
• Antihypertensive drugs. Some forms of Ehlers-Danlos syndrome have more delicate blood vessels, therefore your doctor may advise keeping your blood pressure under control to lessen the strain on the vessels.

Physical Exercise

More joints will dislocate if the connective tissue is weak. The main form of treatment for Ehlers-Danlos syndrome is exercises that strengthen muscles and stabilize joints. To help prevent joint dislocations, your physical therapist might also suggest a certain brace.

Surgical And Other Procedures

Surgery may be advised to fix joints that have sustained recurrent dislocations as well as to patch up blood vessels and organ ruptures. The fragile tissues may be torn through by the stitches, preventing the surgical incisions from healing properly.

Prevention Of Ehlers-Danlos syndrome

Talking to a genetic counselor, a health care expert qualified to determine the risk of inherited problems, may be helpful if you have a personal or family history of Ehlers-Danlos syndrome and you're considering creating a family. The inheritance pattern of the particular form of Ehlers-Danlos syndrome that affects you and the risks it poses for your offspring can be better understood with the help of genetic counseling.

Complications Of Ehlers-Danlos syndrome

The types of indications and symptoms you experience can lead to complications. For instance, premature onset of arthritis and joint dislocations can both be brought on by too-flexible joints. Strong scarring may form on skin that is fragile.

Major blood vessel ruptures, which can be fatal, are a risk for people with vascular Ehlers-Danlos syndrome. The uterus and the intestines are two examples of organs that may rupture. The chance of a uterine rupture can rise during pregnancy.

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