What is Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is a genetic disorder that affects the connective tissue in your body, such as your joints, skin and blood vessel walls. There are 13 different subtypes of EDS, and some are more severe than others. The condition affects one in every 2,500 to 5,000 people.
What are the symptoms of Ehlers-Danlos syndrome?
The symptoms of EDS depend on the type of the condition you have. But, the most common symptoms of EDS affect the joints and skin.
Symptoms involving the joints include:
- Joint pain.
- Loose joints that may dislocate.
- Being “double-jointed”.
- Osteoarthritis (breakdown of bone and cartilage in the joints) early in life.
Symptoms involving the skin include:
- Extra stretchy skin that may be soft and velvety.
- Fragile skin that tears and bruises easily.
- Severe scarring.
- Wounds heal slowly and poorly.
- Extra flesh that forms over scars at pressure points (molluscoid pseudo tumors).
Ehlers-Danlos syndrome can also affect your vascular system. Symptoms of this type of EDS include:
- Distinctive facial features: thin nose and upper lip, small chin and large eyes.
- Thin, translucent skin.
- Varicose veins at an early age.
How is Ehlers-Danlos syndrome diagnosed?
Ehlers-Danlos syndrome is often diagnosed based on a family history of the disease and having symptoms of the disorder. A genetic specialist can order tests to find out the exact type of EDS you have.
What treatments are available for patients with Ehlers-Danlos syndrome?
There is no cure for EDS. Treatment focuses on relieving symptoms and preventing serious problems related to EDS. You may need to take medication to manage pain or keep your blood pressure low to avoid problems with your blood vessels. Depending on the type of EDS you have, you may need to make lifestyle changes, such as avoiding heavy lifting or contact sports. Physical therapy, special braces and surgery may also be used to help correct problems caused by EDS.
Surgery
Surgery is not usually needed to treat patients with EDS who have an enlarged heart or aorta. It is possible, but rare, for EDS to cause an aortic dissection. If this happens, you may need surgery. If the section of aorta that is attached to your heart (aortic root) is involved, you may need to have surgery to reimplant the aortic valve into a tube graft. If you need surgery, your doctor will talk to you about your treatment options.
How does Ehlers-Danlos syndrome affect my life?
The way EDS affects your life depends on the type you have and your overall health. If you have the vascular type, your risk of life-threatening organ and blood vessel rupture is higher. This is not the case with other types of EDS. It is important to talk to your doctor about your plan of care and ways to prevent complications.
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