While originally thought to be a rare disorder, Ehler’s Danlos Syndrome (EDS) is proving to be more common than once thought. EDS is a group of inherited connective tissue disorders often characterized by hypermobility, fragile skin, and chronic fatigue, among other health issues. While the cause of this genetic condition is unknown, pursuing a formal diagnosis can result in better symptom management and improved mental health.
What is Ehler’s Danlos Syndrome (EDS)?
Our connective tissues (including collagen) are present throughout the entire body and play significant roles in the proper functioning of all organ systems. Since EDS affects those connective tissues, it can affect your entire system, which makes it hard to diagnose and treat. The symptoms of EDS may seem completely unrelated, but are, in actuality, linked and result from genetic mutations in various connective tissues, with the gene responsible currently only identified in 12 of the 13 known EDS subtypes.
There are 13 subtypes of EDS currently known and early research suggests the need for even more specific subtyping. The most common subtype is hEDS, which is complex in its own respects, regarding correlating comorbid conditions. The other subtypes may exhibit characteristics that pose a greater risk and could be life-threatening, leading to a shortened life span of those affected. Among these subtypes, the Vascular subtype or “vEDS,” is commonly known as one of the most dangerous subtypes. This particular genetic mutation of the collagen genes causes the blood vessel walls in the body to become too thin, stretchy, and weak. Consequently, individuals with this subtype experience recurring abdominal hernias, arterial aneurysms, rupture, or dissection, tissue fragility, organ rupture and fragility, or pneumothorax (collapsed lung).
vEDS is especially important to catch in women of childbearing age, as women in general with EDS are considered high-risk pregnancies. Pregnant patients with vEDS are extremely high-risk because those with vEDS can have childbirth complications like placental rupture, uterine rupture, and postpartum hemorrhage, which can threaten the lives of both mother and child.
EDS & Genetics
In general, the cause of the EDS subtypes involves specific genetic mutations that affect the structure and function of collagen and other connective tissue proteins throughout the body. Genetics are extremely important in terms of EDS, as many patients are worried about gene inheritance among their children or may be in the process of making reproductive decisions based on this information.
Does Having EDS Just Mean You’re Extra Flexible?
A common misconception regarding those with EDS is that their condition simply makes them extra flexible. While it’s true that some with EDS experience joint hypermobility (when the tendons and ligaments are too lax or stretchy, so they don’t support joints as well as they should), it doesn’t always present for patients, nor does it mean that everyone with joint hypermobility has EDS. Other conditions could cause joint hypermobility, like hypermobility spectrum disorder (HSD). Those with EDS can also have skin hyperextensibility, meaning the skin stretches farther than what is expected to be “normal.” EDS patients can present with a wide range of symptoms that are often individualized, which can make raising awareness and rendering diagnoses difficult since these syndromes don’t look the same for every person.
EDS Diagnosis & Treatment
The journey to EDS diagnosis is often a long and frustrating road of medical testing, failed treatments, and misdiagnoses. The connective tissue mutations may not be easily detectable, yet lead to tissue and organ “dysfunction.” For someone with EDS, the body’s structures and organs largely appear normal, but do not function as well as they should.
While no current treatment or “cure” exists for EDS, pursuing a formal diagnosis has numerous benefits. For many EDS patients, a diagnosis can be a very emotional and validating experience. Unfortunately, far too many patients with EDS are misdiagnosed with conditions like bipolar disorder or disregarded entirely after test results come back seemingly normal. A diagnosis of EDS will also provide you with insight into why and how your body works, what avenues exist for research and symptom management, and the likelihood of your future generations carrying on the condition.
Oftentimes, patients who have been suffering or searching for answers for years are so used to their lifelong symptoms that they create a baseline for themselves, creating coping mechanisms in an unconscious reflex-like response to ailments. Many individuals may mistakenly believe their symptoms are normal due to the length of time they have been experiencing them, leading them to not realize that seeking help is an option. Raising awareness for EDS is critical for creating necessary interventions for EDS patients like these, who may need help understanding their condition.
Is EDS Rare?
While the whole collection of EDS subtypes was originally thought to be rare, the reality has been quite the opposite. EDS is actually far more prevalent than we realize! The issue is that EDS has been underestimated, underdiagnosed, or even misdiagnosed. In recent years, the prevalence of hEDS (the most common subtype) has increased to now 1 in 500 of the population approximately affected. Before this was thought to be 1 in 5,000. The other subtypes are a bit less common, but not as rare as expected either. Many doctors and patients hear that 1 in 5,000 statistic and dismiss any likelihood of ever encountering a case of EDS when we now know it is far more prevalent.
“As a provider with the hEDS triad, I want to say don’t give up on diagnosis and management. Always advocate for the health of yourself and your family,” said Rosemarie “Rosie” McFather, MSN, APRN, FNP-BC of TPMG Gastroenterology—Newport News. Underdiagnosis is an issue within the medical community, but with continued awareness, we can help those with undiagnosed EDS find a formal diagnosis and effective disease management.
Treatment for EDS in Hampton Roads, VA
Every hour of every day those with EDS face a different struggle or challenge with their health, whether that means aches, pains, or dysfunctions. Together we can take each struggle one step at a time and find ways to cope and never give up. For many of those with EDS, struggle has become a fixture of their lives, but this dazzle of zebras is a resilient community who’ve found ways to cope and overcome their illness!
Tidewater Physicians Multispecialty Group includes over 200 family medicine and specialty physicians, including advanced practice providers, in 85 locations throughout Hampton Roads, VA. Make an appointment with Rosie McFather in our Newport News Gastroenterology office, or find a location near you.
About Rosemarie “Rosie” McFather, MSN, APRN, FNP-BC
Rosemarie “Rosie” E. McFather, MSN, APRN, FNP-BC, is a certified family nurse practitioner with TPMG Gastroenterology in Newport News. Rosie treats patients of all ages with acute and chronic gastrointestinal conditions. Additionally, she performs colonoscopy screenings, post-procedure follow-ups, and health checkups. Rosie has special interests in women’s health, given her keen ability to be discreet, yet remains fascinated with the gastrointestinal tract. Her goal is “to help patients get back their ‘regular’ lives, one gut at a time.”
