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Dr. Norman Marcus
Dr. Norman Marcus

Q: What can someone with Ehlers-Danlos syndrome expect over their lifetime?

A: Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect the way the body metabolizes (processes) collagen. (Collagen is the substance that holds the body together. It provides strength and structure.) Collagen has a certain amount of elasticity, much like the stretchy elastic band on our undergarments. When we stretch a part of our body like our muscles and the tissue covering the muscles, fascia, it should come back to its original shape. But in patients with EDS, collagen is overly stretchy, leading to weakness of all the soft tissues. This can lead to joint instability and even joint injuries.

People who have classical, vascular, and hypermobile types of EDS usually have overly flexible joints and stretchy, fragile skin. Approximately 90% of patients with EDS have the hypermobile EDS (hEDS) type. When symptoms first appear it is often in young children complaining of ankle and knee pain or pain in the fingers when doing fine motor skills. Medical evaluation generally does not discover a cause of the child’s complaints and they are told that they have “growing pains.” Because of the general absence of awareness of EDS, it takes an average of 15 years to make the diagnosis. This often leads to needless treatments, cost, and suffering.

Although the prognosis for those with hypermobile EDS depends on the type and severity of the condition, hEDS does not shorten life expectancy. Joint pain and instability can worsen over time, but treatment can significantly reduce or eliminate pain and improve function and quality of life.

 Vascular EDS (vEDS) can be more problematic. With vEDS, the skin is more translucent. You may be able to see the veins through the skin. It can cause the walls of your blood vessels, intestines, or uterus to rupture. Patients often have a typical appearance of their face, with a small jaw and narrow nose. If you have vEDS, there is a higher incidence of aneurysms (a bulge or “ballooning” in the wall of an artery) and sudden death. It is important to have regular screenings of the blood vessels that may develop aneurysms: the aorta (heart), renal (kidney) and splenic (spleen) arteries. We can sometimes do interventional surgery to make sure that the aneurysm does not rupture. Vascular EDS is much less common than hEDS.

If you have EDS, pregnancy requires some special considerations. You will need to go to an obstetrician-gynecologist who is knowledgeable about EDS. Many patients with EDS have healthy pregnancies.

– Norman Marcus, adjunct clinical assistant professor of pain medicine in neurological surgery and anesthesiology at Weill Cornell Medical College and founder of the Norman Marcus Pain Institute

This question was answered during the episode of Spine Time called “Ehlers-Danlos Syndrome: What Is It and How Is It Treated?” A recording of this webinar held on August 19, 2020, is available on YouTube. To sign up for future episodes of Spine Time, where you can ask questions of our spine specialists, subscribe here.

See more Ask a Spine Doctor columns