By Sylvia Foley, AJN senior editor
“Most of the local doctors … thought I was making this up.”—patient on online forum
Joint hypermobility is often characteristic of EDS. Photo © 2015 Suzbah / Dreamstime.com.
You might not have heard of Ehlers–Danlos syndrome (EDS), but chances are you’ve had a patient with this hereditary connective tissue disorder, which affects an estimated one in 5,000 people worldwide. The real number is probably higher. There are six types of EDS with widely varying presentations—and given the lack of consensus regarding diagnostic criteria, underrecognition seems likely.
Primary symptoms can include skin hyperelasticity, joint hypermobility, and general tissue fragility; the effects can be disabling and even life threatening. In one of this month’s CE features, “Nursing Management of Patients with Ehlers–Danlos Syndrome,” author Linda K. Anderson offers nurses a clear guide to this condition. Here’s a short summary:
Overview: EDS has historically been misunderstood … Because of the high degree of phenotypic variability, patients are often correctly diagnosed only after years of seemingly unrelated but debilitating injuries and illnesses. Specific genetic mutations have been identified for some, but not all, EDS types; patients presenting with a high index of suspicion should be referred to a geneticist. As awareness and recognition of the syndrome improve, nurses are increasingly likely to care for patients with EDS. This article gives a brief overview of the syndrome and provides guidance on ways to manage symptoms, recognize and prevent serious complications, and improve patients’ quality of life.
Anderson also speaks to how providers’ lack of awareness has compounded patients’ suffering. She writes, “Many patients with suspected or diagnosed EDS have reported humiliating and traumatizing experiences when seeking health care,” and notes that in one British study, more than half of surveyed rheumatologists thought “reassurance only” was appropriate treatment. This article, which is free online, should convince you otherwise.
This article was so helpful! It helped me to come to the point where I would like to get an official diagnosis. I originally thought that I only had the hyper mobility type of Elhers-Danlos syndrome, but I now think that I could have the Classical type of Elhers-Danlos syndrome.
Sad, I would think RN’s would have been taught to wear no scents at all. I know on work days I shampooed and washed with unscented soaps wore unscented makeup and did not wear clothes washed in scented substances. Just makes sense to me to lose the scents in a hospital setting.
I appreciate that POTS was mentioned, but wish other forms of autonomic dysfunction such as orthostatic intolerance and neurally mediated hypotension were included. it has been my experience that once POTS was tested for and ruled out, there was no further examination for other forms of dysautonomia, which delayed my treatment for several years.
Excellent article. I would like to suggest a modification: It is important for a patient that is suspected of having Ehlers-Danlos Syndrome be seen by a geneticist that is very experienced in diagnosing EDS. There are many stories of patients who received a negative dx from a geneticist, only to learn later that they do in fact have EDS. You can find such a dr. by contacting a dr. on the Ehlers-Danlos National Foundation (ednf.org) board; or by researching EDS online forums and then checking the physician’s credentials, c.v. and bio; or by contacting the EDNF Treatment Center: http://www.ednf.org/ednf-center-research-clinical-care
Good article the ehlers population is also complicated by mast cell activation disease which causes airway swelling. My dtg just spent 30 days in the hospital and all our admissions are a fight thruout the hospital as everyone wants to wear perfume, Cologne , and double strength fabric softener. Most all the mast cell pts react to smells and the medical facility we use is a constant battle from the time we call 911 the ER nurses all the nurses, and God help you if the call a code everyone on that team is chewing mint gum with fresh perfume on all standing in the room at once