By Rosemarie “Rosie” E. McFather, MSN, APRN, FNP-BC
We are all taught in our medical training that common things occur commonly; however, in some cases, when we hear hoof beats, we may need to look out for a dazzle of zebras. Ehler’s Danlos Syndrome (EDS), a hereditary connective tissue disorder resulting from genetic mutations in various connective tissues, was previously considered a relatively rare condition. Nevertheless, as our understanding of this disease and its diverse mutations expands, we’re discovering it may not be as uncommon as we once thought.
While the whole collection of EDS subtypes was initially thought to be uncommonly rare, the reality is quite the opposite. EDS is far more prevalent than we realized. Previously, it was believed that only 1 in 5,000 individuals were affected by EDS. However, the prevalence of hEDS, the most common subtype, has recently risen to 1 in 500. While other subtypes of EDS, including cEDS, are less common, they are not nearly as rare as expected either. Far too often, many healthcare providers hear the incorrect statistic of 1 in 5,000 and dismiss any likelihood of ever encountering an EDS patient in their practice. In such cases, patients and their families often have to advocate for themselves to receive an accurate diagnosis.
For many patients, a diagnosis of EDS is overwhelming and emotional, but it also gives the patient validation that they are not crazy. Many patients undergoing the diagnostic process will have had numerous “normal” test results despite their symptoms. Many have been told by providers in the past that they are “Bipolar” or that these symptoms are all in their heads. A correct diagnosis provides insight into why and how their body works, guides them toward effective symptom management, and makes them aware of the safety of their children or other affected generations.
The good news is that any provider can make a diagnosis of EDS and can order genetic testing. EDS is not a diagnosis that should be limited to only rheumatologists and geneticists. As providers, we have a shared responsibility to coordinate care by working as an interdisciplinary care team for EDS patients, especially due to the wide array of conditions involved.
The journey to diagnosis is often a long and frustrating road of medical testing, failed treatments and misdiagnoses. The mutations of these connective tissues are largely invisible. They can cause tissue and organ dysfunction, meaning structures and organs appear normal but do not function as well as they should. Despite the challenges, the diagnosis of EDS must be addressed. When faced with a patient exhibiting joint hypermobility, velvety or “loose” skin, issues with wound healing, or any other complication associated with EDS, remember: if you cannot pinpoint the issues, consider connective tissues.
Together, through increased awareness, we can help those with undiagnosed EDS understand their condition and find ways to manage their chronic illness.
Rosemarie “Rosie” E. McFather, MSN, APRN, FNP-BC, is a certified family nurse practitioner with TPMG in Newport News. She treats patients of all ages with acute and chronic gastrointestinal conditions. Additionally, she performs colonoscopy screenings, post-procedure follow-ups, and health checkups. mytpmg.com
