DEAR MAYO CLINIC: I was recently diagnosed with Vascular Ehlers-Danlos Syndrome. My doctor said there was no cure and it was genetic. What can be done to treat this? I have two young children. Should they be tested for this?
TO RESPOND: Ehlers-Danlos syndrome often causes overly floppy joints and fragile, stretchy skin. When you suffer from this disorder, you may be prone to joint dislocations and bruising easily. Your skin may not heal well.
Ehlers-Danlos vascular is a more serious form of the disease that affects the blood vessels. It can weaken the aorta, which is the large artery that carries blood away from the heart, as well as the arteries in the neck and abdomen. In some cases, vascular Ehlers-Danlos can also weaken the walls of the large intestine or uterus.
While there is no cure for Ehlers-Danlos syndrome, physical therapy can often help manage symptoms and prevent complications. Regular follow-up care and monitoring at a vascular center, such as the Mayo Clinic, is also valuable. This is because specialists can detect problems that may develop due to Ehlers-Danlos in the early stages, when they are easier to treat.
Exercises to strengthen the muscles around your joints can help stabilize those joints. This reduces your risk of joint dislocation. A physiotherapist can teach you how to perform these exercises and suggest other physical activities appropriate to your situation.
When you have Ehlers-Danlos, you should limit or avoid certain activities. These activities include competitive or contact sports, weight lifting over 40 pounds, sprinting, and other resistance-type activities that increase your risk of injury. Light aerobic exercise is acceptable, such as swimming, jogging, or cycling.
For vascular Ehlers-Danlos, keeping your blood pressure low can alleviate stress on your fragile blood vessels. This reduces the risk of damage to blood vessels, such as the walls of the arteries separating — a condition known as blood vessel dissection. Lowering blood pressure can also reduce the risk of your blood vessels swelling or rupturing due to weakness. In some cases, you may need to take medicines to keep your blood pressure low, such as metoprolol or losartan.
To monitor the health of your blood vessels over time, your healthcare provider may recommend regular imaging exams of your aorta and other major arteries.
People with Ehlers-Danlos have a chance of passing this disorder on to their children. With that in mind, it’s a good idea for you to see a genetic counselor to discuss the risks and benefits of genetic test for your children.
An accurate diagnosis of Ehlers-Danlos is crucial to ensuring the proper and timely medical care needed to avoid serious complications. In many cases, genetic testing is recommended for children who may have the disease.
Since Ehlers-Danlos syndrome is rare, you should consult a specialist who is familiar with Ehlers-Danlos and has experience in caring for people with this disorder. Additionally, since this disorder can affect a number of different areas and systems of your body, it is best to receive care for Ehlers-Danlos at a healthcare facility that offers access to all of the medical specialties you need. might need, such as cardiology, vascular disease. surgery and urology, among others. — Dr. Fadi Shamoun Cardiovascular Disease, Mayo Clinic, Scottsdale, Arizona