The Nuanced Challenges of Diagnosing, Managing Ehlers-Danlos Syndrome, with Andrew Sharobeem, DO

Ehlers-Danlos Syndrome (EDS), a rare grouping of inherited connective tissue disorders characterized by hypermobility, affects nearly every bodily system, which can lead to misdiagnoses and challenges in daily life. The condition can have a profound emotional and psychological impact, often intertwined with underlying trauma, anxiety, and depression.

In an interview with HCPLive, Andrew Sharobeem, DO, a rheumatologist at Arizona Arthritis and Rheumatology Associates, discusses the major unmet needs among patients with EDS, including awareness among healthcare providers, and highlights common misconceptions about the condition.

HCPLive:Can you describe what EDS is and how it presents in patients?

Andrew Sharobeem, DO: EDS is a genetic disorder that has 14 different subtypes. It is commonly characterized by hypermobility in the majority of patients, but has become infamous for the associated nuances and complexities. Many go their whole lives thinking they have an undiagnosed lupus or multiple sclerosis. Patients typically present with a laundry list of concerns that affect almost every single body system. Many are quick to get labeled with fibromyalgia and sent on their way. However, as we know, associated conditions such as Postural Orthostatic Tachycardia Syndrome (POTS) and Mast Cell Activation Syndrome (MCAS) can be very debilitating if left untreated. I would be remiss as a rheumatologist if I did not mention and iterate that EDS is not an autoimmune condition, it is a genetic disorder.

HCPLive: What are some common challenges that individuals with EDS face on a daily basis?

Sharobeem: As a provider that does not suffer from this condition, I can only speak from the perspective of what is reported to me by my patients. Most report that each morning is something different, and they don’t really know what the day will bring. They do not know if when they rise from the bed, they will become dizzy with a high heart rate and nearly or completely pass out. Some have a routine of chugging a bottle of water to just safely get out of bed. Some may wake up with a dislocated shoulder from sleeping wrong. Some wake up with hives because perhaps they ate what they thought was a food that they were not allergic or sensitive to but had a hidden ingredient that triggered their MCAS. Everyday presents new challenges and it is a daily struggle for these patients.

HCPLive: From your experience, what are some of the major unmet needs of patients with EDS?

Sharobeem: Simply put: awareness. We need more practitioners to recognize and have a willingness to take on treating the different aspects of this complex disorder.

While I do want to stress that if conditions like lupus and multiple sclerosis are suspected, they should certainly be ruled out. However, when those work ups start coming back negative and they are back at square one, EDS needs to be recognized.

HCPLive: How does EDS impact the quality of life for patients and their families?

Sharobeem: EDS is a terribly complicated disorder. This has the potential to greatly affect the quality of life for both patients and families. There may be many events that are missed or need to be rescheduled due to a flare of an associated condition. However, the greatest impact I would say is the gaslighting that these patients may endure. Gaslighting may come from the medical system and also from their own families that don’t quite understand or believe that they are suffering from a condition that if not managed, can be very debilitating.

HCPLive: Are there specific aspects of EDS management or treatment you believe are not adequately addressed in current healthcare practices?

Sharobeem: The first hurdle is identification and diagnosis! This is being horribly missed among the medical community. After that comes the identification and treatment of the commonly associated conditions including POTS and MCAS. We need more providers that are willing to learn and take on treating these conditions. Currently across the US—and the world—there are a lack of providers treating these conditions. The more hands on deck the better for both the patients and providers. We need to avoid overloading both patients and providers, and do this, we need help from the medical community.

HCPLive: What are some misconceptions or lack of awareness about EDS that you think need to be addressed in the medical community or in society at large?

Sharobeem: The medical community needs to understand that EDS is a very real genetic condition. It is not the “Tik-Tok disease” or the “trendy” condition to have. Unless there is a true psychiatric disorder in a patient, no one wants to keep going to different doctors, undergoing a multitude of testing, incurring medical bills, taking time from work and family, for fun. These patients are suffering on a daily basis and they simply want their symptoms recognized, believed, and treated to the best of the medical community’s ability.

HCPLive: Can you discuss the emotional and psychological impact of EDS on patients, including issues like anxiety and depression?

Sharobeem: Anecdotally, many patients with EDS concurrently have some sort of underlying trauma, post-traumatic stress disorder, anxiety, and depression. Many have families that have drug and alcohol abuse in them as they have lived their whole lives suffering from a debilitating condition that no one could identify or treat. They were raised with generational trauma all while accruing their own searching for answers and help.

HCPLive: Are there any promising research or treatment developments on the horizon that may address some of the unmet needs of EDS patients?

Sharobeem: I am happy to say that awareness is spreading regarding EDS, but more work needs to be done. The Ehlers-Danlos Society and patients themselves are doing their best to spread that awareness. One very interesting new development on the horizon is a medication for the treatment of Vascular EDS. Vascular EDS has the highest morbidity and mortality among the different types of EDS, however, it is also the most rare. This medication is touted to potentially reduce the risk of arterial and other hollow organ clinical events. Which means we could see patients living longer with those reduced risks of fatal bleeding events, which is truly revolutionary.

HCPLive: How can healthcare providers better support and meet the needs of individuals living with EDS?

Sharobeem; EDS is complicated, but also not complicated for healthcare providers. The best thing you can do is lend an ear, a shoulder for these patients. Believe what they are saying, and try to help them to the best of your ability. You would be surprised that sometimes just listening and validating what they go through on a daily basis, makes all the difference for them.