Reevaluating Ehlers-Danlos Syndrome: How Vascular EDS Patients Are Left Behind

Few conditions in the world of rare diseases have undergone as significant a reevaluation as Ehlers-Danlos Syndrome (EDS) did in 2017, with the reclassification of its subtypes. While the intention behind this International Classification was to provide more clarity to health professionals, patients, and researchers, it raised critical concerns for those confronting from the most life-threatening form: Vascular Ehlers-Danlos Syndrome (VEDS). Unfortunately, the reclassification may also result in potential delays in diagnosis and treatment, which significantly heighten patient danger.

The diagnosis of VEDS now centers on identifying a causative variant in one allele of COL3A1, which can be challenging even for experienced clinicians, leading to further patient complications. But what about patient voice and history?

The multiple authors of the 2017 classification note: “Even for experienced clinicians, the clinical diagnosis of VEDS may be difficult. Because of implications for treatment, natural history, and recurrence risk, the diagnosis of VEDS rests on the identification of a causative variant in one allele of COL3A1.”

The classification, which now recognizes 13 subtypes of EDS, was a concerted effort by the medical community to bring order to a complex array of symptoms and genetic variations. Experts deliberated over whether to maintain a clinically oriented classification, focusing on how symptoms present in patients, versus a genetic classification, which groups conditions based on their genetic causes. Ultimately, the decision was made to preserve the clinical approach, and descriptive names—such as hypermobile EDS (hEDS), classical EDS (cEDS), and vascular EDS (VEDS)—were recommended for use in medical, scientific, and patient communities. 

Albeit symbolic, it is crucial to highlight the risks and urgency of Vascular Ehlers-Danlos Syndrome by capitalizing the “v” in vascular. This underscores the vital role of patient and physician advocates in raising awareness about a condition that can save lives if treated promptly and correctly.  Groups like The Marfan Foundation and its ties to the VEDS community serve as rallying points for much-needed conversation and awareness, empowering the audience to take action in the rare disease community.  Meanwhile, massive real-world evidence platforms that capture millions of patient voices, such as StuffThatWorks, are shifting to the “cap V” to underscore essential change.

While the reclassification analysis was made with good intentions, the authors sought to satisfy research needs and create a new standard for diagnosing EDS, offering a “framework for future research purposes.” This reclassification could pave the way for more targeted and effective treatments for VEDS, but it also lumps VEDS in with other less urgent forms.

Vascular EDS is not simply a subtype of a rare disease; it is a ticking time bomb. It is a condition that can lead to sudden death due to ruptured arteries, bowel perforations, and other catastrophic vascular events. Despite this, VEDS is grouped alongside other, less life-threatening – albeit life-altering and dangerous – forms of EDS, potentially diminishing the urgency required for diagnosis and treatment. This classification system may lead to the underdiagnosis of VEDS, particularly in emergency room settings, and why this oversight could cost lives.

The Challenge of Recognizing VEDS in a Subtype Framework

EDS is a genetic connective tissue disorder that affects the body’s ability to produce collagen in all its forms. However, the severity of symptoms across the 13 subtypes varies dramatically. Hypermobile EDS, a common form, causes joint hypermobility, chronic pain, gastrointestinal distress, and frequent dislocations. These symptoms are undoubtedly life-altering, but they are not immediately life-threatening. Vascular EDS, on the other hand, is a condition in which the walls of the arteries, intestines, and uterus can spontaneously rupture, often without warning, and the outcome – without correct and speedy intervention – can be fatal.

For patients with VEDS, life is precarious. A seemingly routine day can turn fatal with the rupture of a major blood vessel. The median life expectancy of those with VEDS is between 48 and 51 years, with many patients dying from catastrophic internal bleeding in their 20s and 30s. When VEDS patients arrive at the emergency room, their symptoms—such as abdominal pain or chest discomfort—are too often misdiagnosed. Without the immediate realization that these patients are experiencing vascular events, the consequences are usually fatal. 

Yet, the fact that VEDS is listed as a “subtype” of EDS may be one reason emergency room physicians are not diagnosing these cases correctly or not engaging with urgency. By classifying VEDS under the same scroll-down subtype as other EDS forms, its severity can be overlooked. Medical professionals might be familiar with the musculoskeletal manifestations of hEDS. Still, they may not be fully aware of the life-threatening risks that VEDS patients confront daily. This lack of awareness or confusion can lead to misdiagnosis, mistreatment, and (preventable) death.

Subtype Thinking and Physician Engagement: A Fatal Disconnect

While designed for clarity, there is a growing concern among people diagnosed with Vascular EDS that the subtype classification system contributes to a lack of urgency in diagnosing their illness. Medical schools and residency programs are still catching up with the intricacies of rare disease training, and the medical community is often overwhelmed by the complexities of EDS.

Presented with 13 subtypes, physicians might reasonably think that all forms of EDS are similar—chronic, difficult to manage, but not necessarily life-threatening. This perception creates a dangerous environment for VEDS patients, whose symptoms can escalate to fatal events without immediate, specialized care.

Moreover, the reclassification might minimize the visibility of VEDS within medical education and patient care discussions. When grouped with other EDS types, VEDS is often viewed through the same clinical lens, with less emphasis on its unique risks. This reduces awareness and limits the resources dedicated to VEDS-specific training for healthcare professionals. The consequences are real and devastating: emergency room doctors may not consider VEDS as a potential diagnosis until it’s too late, leading to fatal outcomes that could have been prevented with earlier recognition.

The Consequences in Emergency Care: A Case for Better Awareness

Emergency rooms are high-pressure environments where decisions must be made quickly. A VEDS patient might come in with symptoms such as a sudden, severe headache, chest pain, or abdominal discomfort. In the absence of a known diagnosis, these symptoms can be attributed to common ailments like migraines, heartburn, or indigestion. However, in a VEDS patient, these symptoms can be early indicators of a ruptured artery or bowel, requiring immediate, life-saving intervention.

For emergency physicians, recognizing these red flags is crucial. Yet, studies show that rare diseases are often underrepresented in medical education, and this lack of knowledge can have fatal consequences. In the case of VEDS, a patient’s life may depend on whether a physician is familiar with the condition. Sadly, many VEDS patients report being dismissed or misdiagnosed when they seek emergency care, only to experience catastrophic events shortly after leaving the hospital.

In the case of people with undiagnosed VEDS, the danger of lack of clinical knowledge among first responders amplifies the risks. In the case of 12-year old – undiagnosed Natalie Paquette – the results were tragic. “Because Natalie’s heart rate was mainly stable initially, first responders bypassed a hospital ten minutes away and instead took Natalie to a children’s hospital 45 minutes away, unknowingly delaying crucial emergency treatment. Aortic dissection is typically diagnosed via a stat CT scan and treated via immediate surgery. Because of Natalie’s age, the first responders did not use lights nor sirens, trying to make an ambulance ride less stressful for a child nobody dreamed was experiencing a life-threatening aortic emergency.” Natalie lost her life due to a series of unfortunate events – but at the center of her death lies a common cause – lack of clinical knowledge.

The nature of VEDS requires that healthcare providers treat these patients with extraordinary caution. Imaging scans and other diagnostic tools can help detect arterial ruptures or other vascular issues, but they must be used quickly and appropriately. Without a clear understanding of VEDS and its risks, physicians may not order the necessary tests or provide the proper treatment, leading to tragic and avoidable deaths.

Shift Subtype Thinking Toward Life-Saving Action

To elevate VEDS patient care, the medical community must take steps to ensure that this condition is no longer seen as just another subtype. EDS reclassifying in 2017 was a step forward in many ways, but it inadvertently created a blind spot regarding Vascular EDS. A stronger focus on education in medical school and continuing professional development is urgently needed. Emergency room doctors, vascular specialists, and primary care physicians must all be aware of the dangers posed by VEDS and be prepared to act swiftly when patients appear with symptoms that mimic other conditions – even flu or GI upset.

Vascular EDS patients are accessing tools to advocate for themselves in medical settings. Medical alert bracelets and cards, detailed medical records, and clear communication with health providers are all essential for ensuring that patients receive the care they need when needed.

But systemic change is urgent and essential. The medical community must reevaluate how rare diseases like VEDS are classified and treated—how that knowledge trickles down into the emergency services and room response. Rather than grouping VEDS with other EDS subtypes, medical guidelines, educational materials, and clinical protocols should place greater emphasis on its life-threatening nature and, not unexpectedly, listening to the patient. This will ensure that physicians understand the gravity of VEDS and treat it with urgency.

Lives Depend on an Updated Perspective

Groups such as the American Heart Association echo the concerns of The Marfan Foundation and the VEDS community and have suggested that “it is important to create guidelines for the management and surveillance of individuals with vEDS.”

The current classification system for Ehlers-Danlos Syndrome is well-intentioned. However, the risks underrepresenting the severity of VEDS are concerning. By continuing to treat VEDS as another subtype of a broader condition, it is likely that physicians unintentionally may diminish the seriousness of a life-threatening genetic disorder that can and does kill. When arriving in the ER, VEDS patients or family members often know the risks and communicate concerns. This condition must be better understood in medical education and clinical practice. Lives depend on it.