A wake-up call to the medical community sent directly with data from commercial health insurers

A new study focused on the prevalence of multisystem diagnoses among hypermobile Ehlers-Danlos Syndrome (hEDS) patients sheds light on a critical aspect of this complex condition: the widespread systemic impact it has on the body and the connection to other multisystemic disorders. This research is essential for patients, caregivers, and healthcare providers seeking to understand the broad scope of challenges EDS can present and the importance of adopting a multidisciplinary treatment approach. Read the full study:  “The prevalence of multisystem diagnoses among young patients with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorder: A retrospective analysis using a large healthcare claims database” Kozyra, Monika MD; Kostyun, Regina MSEd, ATC, PhD; Strecker, Sara PhD 

The research aimed to quantify how frequently hEDS pediatric patients (aged 10-24 years old) experience additional diagnoses affecting various body systems beyond the musculoskeletal challenges that are typically associated with the condition. In particular, the study highlights the involvement of cardiovascular, gastrointestinal, neurological, and immune systems, showing just how diverse and interconnected EDS symptoms can be. Currently, there is scarce data on hEDS due to limited research and lack of centers of excellence that specialize in care for these patients so this is a significant, large study group with interesting findings we are excited to share.

According to the findings, a significant number of hEDS patients are diagnosed with conditions such as Postural Orthostatic Tachycardia Syndrome (POTS), Mast Cell Activation Syndrome (MCAS), Chiari malformation, and gastrointestinal disorders. These comorbidities create a complex clinical picture that can make diagnosis and treatment difficult.

Data in the Study Reveals:

• • Participants: Study included 19,790 hEDS patients, 17,509 hEDS and hypermobility syndrome (HMS) patients, and 4,959,713 patients from the general population, within 2 years following hEDS or HMS diagnosis. (It’s important to note that the data came from health insurance claims. The data based on billing statements are more general than medical records. It also does not include people who don’t have insurance but do also have hEDS. Our understanding is the data is derived from private commercial insurers, not including Medicare or Medicaid.)
    
    

• Findings of Most Common Comorbidities:
  
  

• • • Digestive disorders were the most prevalent co-occuring diagnosis. Digestive disorders: 54.6% of patients with hEDS and 41.6% of patients with HMS, compared to 28.5% of the general population. The study showed a high prevalence of gastrointestinal issues, including gastroparesis and irritable bowel syndrome (IBS), both of which can severely impact the quality of life for EDS patients. These issues highlight the connection between hypermobility and the function of the digestive system.
      
      
    • Cardiovascular disorders were second with 43.6% of patients with hEDS and 21.8% of patients with HMS compared to 10.3% of the general population. Many EDS patients develop conditions like POTS or dysautonomia, which affect heart rate and blood pressure regulation. These conditions can lead to dizziness, fainting, and chronic fatigue, which may be mistaken for anxiety or other non-cardiovascular conditions.
      
      
    • Anxiety is shown to be the third commonly seen diagnosis impacting 25% of HSM participants (their second highest), and 28.5% in hEDS compared to the 16.7% in the general population. High levels of anxiety and depression are frequent in hEDS and it has been shown that negative emotions may increase the experience of chronic pain, potentially due to fear of movement causing injury and heightened sensitization.
      
      
    • Respiratory disorders were also very common in hEDS (24.0%) and HMS (21.6%) compared to the general population. Breathing difficulties and exertional dyspnea and/or sleep apnea are frequently reported in hEDS. An altered breathing pattern may be linked to difficulty sensing how much air fills the lungs with each breath and in controlling ventilation, especially when engaging in a cognitive task, a study suggests.
      
      
    • Neurodevelopmental disorders were commonly co-occuring in 23.7% of hEDS, 19.5% in HMS more than the general population with 15.3%. Neurological symptoms associated with conditions like Chiari malformation and cranio-cervical instability (CCI) were also prevalent in the study. These diagnoses can lead to debilitating headaches, nerve pain, and coordination issues, often requiring surgical interventions. 
      
      
    • Patients with EDS are at a higher risk for mast cell activation syndrome (MCAS) as shown in several studies, and according to this newly released study theorizing mast cell disorders could be the root cause of hEDS. MCAS can cause severe allergic reactions, chronic inflammation, and a host of other immune system-related problems, including anaphylaxis. These symptoms are often misinterpreted, especially in urgent care, and receive acute treatment which delays proper treatment and long-term management.
      
      The Bottom Line:

• • • • The data clearly shows in a large study population that these disorders are statistically significantly higher in the hEDS and HMS groups. 

• • • • This highlights the need for multisystem diagnostics within the patient hEDS/HMS populations, especially pediatrics.

For the full list of data comparisons, see Table 3 in the study.

Why This Research Matters
The findings are incredibly important for the patient and caregiver community. As we know, EDS patients often endure years of misdiagnosis or inadequate treatment because the condition is poorly understood and under-recognized. Many patients report that they are initially misdiagnosed with conditions like anxiety or depression, as their symptoms can often be misattributed to mental health issues when the systemic nature of EDS goes unrecognized. Patients know it’s not all ‘in our heads,’ but finally having medical research to validate those facts will be helpful!

This research is also important in the doctor/practitioner healthcare community because nothing in medicine moves forward (which leads to more comprehensive awareness, revised education and training) until the data in the research proves it first. This could be an opportunity to move the needle within the provider community to better recognize hypermobility disorders that could be backed by commonly accepted publications with scientific validity. 

Even more importantly beyond validation in the medical community that hypermobile disorders are indeed real, this paves a path to highlighting to major commercial health insurance companies recognize hEDS as a more common. Once major health insurers recognize the costs associated with the growing patient population with better recognition (and no longer believed to be a rare diagnosis), they can no longer ignore us. They will be forced to invest in awareness campaigns, develop educational materials, fund grants and research, along with future drug and clinical trials for solutions to reduce cost burdens of complex chronic illnesses such as hEDS. This is what moved diabetes forward in recognition overall in the past – to stop the ‘money bleed’ as insurers and venture capitalists funded and built innovations. The sheer numbers in their own study of patient claims data examined does not lie and should bring into light the complexities and costs of caring and treating the hypermobile patient population. That could be a huge win for the hypermobile community overall. Can you imagine a future when we all win as the trifecta of hypermobile supporters: the patients, the providers and the insurance companies work collaboratively toward a treatment and maybe a cure? It is certainly a step in the right direction. 

Finally, Highlighting the Importance of Early and Accurate Diagnosis
This study clearly underscores the importance of holistic care and a multidisciplinary treatment team for EDS patients and early diagnosis. By addressing comorbidities early on, physicians can improve outcomes, help patients manage their symptoms more effectively, and reduce the time to diagnosis for those who are still seeking answers. And insurers can better track population data to drive innovation to better serve the community. In addition, it highlights the need for better education and awareness among healthcare providers about the systemic nature of EDS, hopefully fostering broader methods for new medical school education, diagnostic criteria clarity and physical examination standards.

The multisystem nature of EDS makes it clear that early diagnosis and intervention are crucial for improving patient outcomes. The findings from this study support what many patients have long reported—hEDS does not just affect the joints and skin, but a variety of organs and systems. The systemic impact means that physicians should consider the possibility of EDS when patients present with a broad array of seemingly unrelated symptoms. Remember the saying for medical providers to memorize: “If you can’t connect the issues, think connective tissues.”

Unfortunately, because many healthcare providers are unfamiliar with the multisystemic nature of EDS, patients often experience many years of long diagnostic delays, which can exacerbate symptoms and lower their overall quality of life. Many of these comorbidities, such as POTS or MCAS, have some effective treatments, but these are often only identified and managed after a diagnosis of EDS is made.

Moving Forward: A Multidisciplinary Approach
For the medical community, one of the most important takeaways from this study is the need for a revision in current medical school curriculum to include connective tissue disorders and hypermobility for future doctors aligned with this multidisciplinary approach. Patients benefit most when they have access to a team of specialists who are familiar with the systemic nature of the condition and the need to collaborate on patient care. Patients now often have to coordinate this communication and coordination themselves across multiple doctors including cardiologists, neurologists, gastroenterologists, immunologists, physical therapists, and more, who should be working together to provide comprehensive care.

For patients, being aware of this study’s findings may help them better advocate for more thorough investigations into their symptoms and ensure they receive the full scope of care they need. It’s not uncommon for EDS patients to see multiple specialists, each focusing on their own domain, without considering how these systems might be interacting due to an underlying connective tissue disorder. That’s when it’s critical for patients to become better at self-advocating until the medical system can catch up. The burden should not fall on the patient.

What Can EDS Patients Do Now?
As an EDS patient, knowing the full extent of how your condition can impact different systems in your body is helpful and quite empowering. Here are some self-advocacy steps you can take to enhance your health literacy and self-efficacy:

1. Advocate for Comprehensive Care: Don’t hesitate to request referrals to multiple specialists if you feel your symptoms are affecting more than just your joints or skin. Cardiologists, neurologists, gastroenterologists, and other specialists and therapists can all play a vital role in your care. You might have to dive deep into each ‘end-organ’ system one at a time to connect the dots.
   
   
2. Track Your Symptoms: Since EDS can present in so many different ways and varies by individual, it’s recommended to keep a detailed symptom log or journal that can help your doctors make more accurate diagnoses and create a comprehensive treatment plan. The data can help them identify patterns you might not see.
   
   
3. Stay Educated: Learn about your suspected conditions. Understanding the common comorbidities associated with EDS can help you recognize early warning signs of conditions like POTS or MCAS and seek treatment sooner rather than later.
   
   
4. Join Support Networks: Many EDS patients find it helpful to connect with others who share their condition, stories, symptoms and struggles online or in person. Peer support groups can offer valuable advice on managing multisystemic symptoms and finding the right specialists. Locate a support group on the Chronic Pain Partners directory.
   
   
5. Enhance Your Self-Advocacy Skills: For EDS patients, this research is also a stark reminder of the importance of self-advocating for a broad-based, multi-specialty treatment approach, as well as seeking specialized care when necessary to address the full range of symptoms effectively.
   
   
6. Consider Hiring an hEDS Independent Patient Advocate. Right now, they are hard to locate but more former medical personnel and impacted patients are turning to help others in this way. We hope to share a global directory for these specialized patient advocates soon. 

This groundbreaking research on multisystem diagnoses in EDS patients is a wake-up call for the medical community to rethink how they approach the complex disorders of connective tissue including hEDS. By continuing to raise awareness and improve education around EDS, the hope is that more patients will receive timely diagnosis and effective care, improving their quality of life in the long run. 

Thank you to the paper’s authors for the investigative review and publication we hope will foster better awareness within the healthcare community about hypermobility. Here’s to one step forward for EDS patients who already knew this, but now have evidence they can point to. 

Resources for Interested Providers to Learn hEDS
If you have a compassionate or curious care provider who’s interested in learning more about EDS, send them these upcoming provider trainings hosted by the EDS Society ECHO Program.