In 2017, an International Classification aimed to provide clarity to health professionals, patients, and researchers emphasizing the distinction of vascular complications, particularly the extraordinarily elevated risk of aortic dissection – at least 250x that of the general population with most VEDS patients experiencing a life-threatening vascular event before age 40.

Unfortunately, the health community has not yet fully appreciated that each of the 13 subtypes are different and need to be treated as individual entities. For those subtypes that are life-threatening – like VEDS — that realization can be the difference between life and death. Delays in diagnosis and treatment continue, which significantly heighten patient danger.

Too few providers know enough about VEDS beyond distant memories of a line or two in a med school textbook. Fewer still understand that VEDS can kill within hours when misdiagnosed. In the case of aortic dissection, recognizing VEDS – particularly in the young whose presentation often confounds providers until it’s too late – is essential.  Ordering a stat CT scan and follow-up emergency surgery can literally mean the difference between life and death.

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 mutation in the 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.

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. Misinterpretation within the medical community that all EDS subtypes are the same leads to the underdiagnosis of VEDS, particularly in emergency room settings – an oversight that can 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 or even younger. 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.

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The Marfan Foundation is the world’s most extensive patient and professional community addressing the needs of people living with genetic aortic and vascular conditions, serving one million people with educational materials and reaching 3.2 million people in the digital space annually.

The Marfan Foundation will play a crucial role in informing individuals living with Marfan, Loeys-Dietz, Vascular Ehlers-Danlos syndromes, and related conditions about the resources and community dialogue offered by StuffThatWorks. This collaboration will enable StuffThatWorks to develop a comprehensive strategy for engaging non-profits with the goal of ultimately benefiting the global patient community.

“We’re honored to have been selected as the first non-profit to align with StuffThatWorks to elevate community members’ voices, foster additional personal empowerment, and advance access to potential learnings that may be derived through global self-reporting,” said Michael L. Weamer, CEO of The Marfan Foundation.

StuffThatWorks’ operational value is that patients’ crowdsourcing information can highlight issues that need to be addressed from the patient perspective as well as spotlight various treatment options, side effects, and obstacles to care: “Understanding how patients experience various treatments is one of them,” according to their website. “The Marfan Foundation has a steadfast commitment to scientific rigor and fostering a strong global community. Operationally, the Foundation leverages world-class experts to focus on research and best practices in patient engagement and empowerment,” says Yael Elish, CEO of StuffThatWorks. “The Foundation’s investment in basic and applied research and translating these understandings into patient support and education reinforces that real-world data is valued in applications with the potential to advance treatments and quality of life.”

“We’re enthused to share what we know about specific non-profit needs and goals while we learn more about the possibilities StuffThatWorks’ patient-centric knowledge-base will offer,” said Weamer.

About 1 in 5000 people have Marfan syndrome, including men and women of all races and ethnic groups. Roughly 3 out of 4 people with Marfan syndrome inherit it. There is a 50 percent chance that a person with Marfan syndrome will pass along the condition each time they have a child. Because connective tissue is impacted and found throughout the body, Marfan syndrome can affect many body parts. Features of the condition are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. People living with Marfan syndrome and related conditions have a 250 times greater risk of aortic dissection than the general public. The lungs, skin, and nervous system may also be affected.

About StuffThatWorks

Created by Waze founding team members, StuffThatWorks uses crowdsourcing and AI to empower patients to transform their experiences into organized, large-scale structured Real-World Data needed for research. StuffThatWorks is the home to three million members across 1250 condition communities that have shared 1.3B data points. Now the largest organized Patient Level Real World Data platform, StuffThatWorks is differentiated by its expansive data collection, structuring, and organization of accessible information. The unique proprietary data set and unique AI and powerful Chat GPT-like capabilities enable the generation of insights for research, market access, and drug development.

Crowdsourcing Treatments that Work | Community Research | StuffThatWorks

About the Marfan Foundation

The Marfan Foundation is a global nonprofit organization that empowers people with genetic aortic and vascular conditions to foster optimal quality of life and longevity while building community. We save lives through research and education, enabling healthcare providers to offer the best-quality treatment and helping to foster mental and physical wellbeing. We serve communities impacted by Marfan syndrome, Loeys-Dietz syndrome, Vascular Ehlers-Danlos Syndrome, and related conditions. To learn more, visit marfan.org or meet us on social media:

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The post StuffThatWorks and The Marfan Foundation to Engage in Pilot Program appeared first on Medika Life.