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Ehlers–Danlos Syndrome
Ehlers–Danlos Syndrome
Ehlers–Danlos syndrome is a group of genetic disorders that affect the body’s connective tissues, which are made up of proteins. Connective tissues give support and elasticity to the skin, bones, joints, blood vessels, and internal organs. These disorders cause connective tissues to become weak, fragile, and stretchable. People with these disorders often have overly flexible joints and stretchy, fragile skin.
Ehlers–Danlos syndrome has 13 types, but many of those are rare. The most common types affect joints and skin. Other types affect the eyes, spine, or heart valves. The most severe types affect the walls of blood vessels and the structures of internal organs.
What are the causes?
This condition is caused by abnormal genes (genetic defects). Some types are passed from parent to child (inherited), and others are not. Sometimes, the genes can become defective during development in the womb.
What are the signs or symptoms?
The signs and symptoms of this condition depend on the type. Signs and symptoms may start in childhood or later in life. Signs and symptoms of the common types include:
Joint and muscle symptoms
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Overly flexible joints that have a wide range of motion and can become displaced easily.
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Joint pain.
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Weak, floppy muscles.
Skin symptoms
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Velvety, soft skin that stretches and sags.
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Skin that bruises and tears easily.
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Skin tears that are hard to repair with stitches (sutures) and that heal with wide scars.
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Lumps under the skin.
Vision symptoms
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Tearing of fibers of the eyeball or tearing of the tissue inside the eye (retinal detachment).
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Changes in vision, including seeing floaters or flashes, or having sudden vision loss.
Vascular symptoms
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Bleeding from tears of internal organs or blood vessels.
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Weak heart valves causing weakening of the heart.
Orthopedic symptoms
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A curved spine, which can cause trouble breathing.
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Bowed limbs and short stature.
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Muscle or tendon tears.
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Weak, thin bones.
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A club foot.
Other symptoms
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A collapsed lung.
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Unusual facial features, such as a thin nose and lips, sunken cheeks, small earlobes, and prominent eyes.
How is this diagnosed?
This condition may be diagnosed based on symptoms and medical history, especially if the condition runs in your family. Your health care provider will also do a physical exam.
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Blood tests to check for genetic defects.
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Tissue tests to check for abnormal body proteins (collagen).
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X-rays of your spine.
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Imaging of internal organs, such as an MRI or a CT scan.
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A bone scan.
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Heart ultrasound (echocardiogram) to look for heart valve problems.
How is this treated?
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Over-the-counter pain medicines.
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Vitamin C to strengthen skin.
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Vitamin D and calcium to strengthen bones.
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Blood pressure medicines to prevent blood vessel tears.
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Physical therapy exercises to improve movement and strength in your muscles and joints.
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Assistive devices that help you move, such as braces or a wheelchair, a walker, or a scooter.
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Surgery to repair wounds, tears, or injured joints.
Follow these instructions at home:
Activity
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Do exercises as told by your health care provider.
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Return to your normal activities as told by your health care provider. Ask your health care provider what activities are safe for you. You may need to avoid doing contact sports and heavy lifting.
General instructions
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Take over-the-counter and prescription medicines only as told by your health care provider.
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Let your health care provider know if you become pregnant. You will need special care to prevent tearing of the womb.
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Tell all health care providers that you have this condition before you have any surgery or procedure.
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Wear a medical alert bracelet.
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Schedule eye exams often.
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Consider having genetic counseling to learn if you may pass the condition on to your children.
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Do not use any products that contain nicotine or tobacco. These products include cigarettes, chewing tobacco, and vaping devices, such as e-cigarettes. If you need help quitting, ask your health care provider.
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Keep all follow-up visits. This is important.
Where to find more information
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National Organization for Rare Disorders: rarediseases.org
Contact a health care provider if:
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You have joint pain.
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You cut or tear your skin.
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You have weakness or shortness of breath.
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You have any new symptoms.
Get help right away if you have:
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Any sudden and severe pain.
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Chest pain or trouble breathing.
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Sudden vision loss, or you see floaters or flashes.
These symptoms may represent a serious problem that is an emergency. Do not wait to see if the symptoms will go away. Get medical help right away. Call your local emergency services (911 in the U.S.). Do not drive yourself to the hospital.
Summary
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Ehlers–Danlos syndrome is a group of genetic disorders that affect the connective tissues of the body.
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This condition is caused by abnormal genes (genetic defects).
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Symptoms range from overly flexible joints and fragile skin to very serious complications, such as blood vessel or organ tears.
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There is no cure for this condition, but treatment can relieve some symptoms and prevent complications.
This information is not intended to replace advice given to you by your health care provider. Make sure you discuss any questions you have with your health care provider.
