Q: My son was diagnosed with Ehlers Danlos syndrome by a genetic doctor. The band on one of his middle fingers broke and he had to have surgery. Ever since the surgery his condition has worsened and he’s in a lot of pain. He now has pain in his feet, neck, everywhere. We did research on some of it and I’m worried. He is only 33. I have osteoarthritis and arthritis runs in our family.
His doctor says it is genetic but the test to see where it comes from is very expensive. I can tell my son is so worried because he may not be able to function in a few years. Do you have any advice or information on this? Please!
A: Ehlers Danlos syndrome (EDS) is a group of inherited disorders that affect and weaken connective tissues within the body. Connective tissues are proteins and other substances that provide support, elasticity and strength to our bones, blood vessels, organs and skin. There are several types of the syndrome that can range from mild to severe. One of the more severe types is known as vascular Ehlers Danlos syndrome that can cause the intestines, blood vessels, aorta, kidneys, spleen and uterus in women to rupture. Individuals with this type commonly have distinctive features that include prominent eyes, small ear lobes, and a thin nose and upper lip.
Interestingly, about one in every 5,000 individuals has some form of EDS. Symptoms of the disorder can include overly flexible joints that move beyond the normal range of motion, skin that stretches and bruises easily, abnormal wound healing, abnormal scar formation, and small blood vessels. There may be fatty growths around the knees or elbows. Fortunately, not all EDS patients will suffer the same symptoms. Those with excessively flexible joints may be more susceptible to joint dislocation and, as you have pointed out, arthritis.
A physical examination of the skin and joints by a health care professional who specializes in genetic disorders is generally sufficient for diagnosing the disorder; however, genetic testing that involves drawing blood can also be performed to exclude other causes of symptoms or diseases causing joint hypermobility.
There is no cure today for this syndrome; however patients are taught methods to deal with their symptoms and ways to prevent more severe complications from forming. For example, when over-the-counter pain relievers fail to work, stronger prescription drugs will generally be provided. Because of the potential for blood vessel damage, blood pressure medication may also be ordered to prevent the blood vessels from having to work so hard. Muscle strengthening exercises can be recommended and in the case of joint dislocations, braces might be ordered. Repeated dislocations may sway a physician toward surgery; however, healing can be compromised following the procedure.
On the home front, your son should take whatever steps are necessary to keep his home clutter free to avoid falls and other injuries. You might recommend he remove scatter rugs and be assured there are no electric cords across the floor or in areas where he can trip. Staircases should be free of books, slippers, plants and other items. He should exercise – but only perform safe activity as recommended by his doctor. He should not engage in any contact sports because of the potential for additional harm. Further, for whatever type of EDS he has, there is a 50/50 chance he will pass the gene on to any offspring.
It appears his doctor is on top of things. If he feels a second opinion is in order, I recommend he contact such facilities as the Mayo Clinic, Johns Hopkins or other top notch facility and tap into their team of specialists who can work with him. Good luck.
