Ehlers-Danlos Syndrome Patients Overlooked in Medical Community

Ehlers-Danlos Syndrome (EDS) was initially considered a rare hereditary disease impacting as many as 1 in 5,000 people. However, recent studies reflect that EDS may be more widespread than experts originally thought, leading some to believe that Ehlers-Danlos Syndrome isn’t a rare disease at all.

There are various possibilities as to why more EDS patients have been diagnosed in recent years than in the past. Common challenges to diagnosing and treating EDS include:

• There are numerous types of EDS conditions. Ehlers-Danlos Syndrome isn’t a single condition, but a group of inherited conditions that affect connective tissue.
• EDS can mimic other conditions, making it difficult to diagnose. Ehlers-Danlos Syndrome symptoms can mimic similar conditions, such as Crohn’s disease, fibromyalgia, multiple sclerosis, and asthma.
• EDS can manifest in countless ways. There is a wide range of symptoms associated with EDS that vary from person to person, making it difficult to determine whether a patient’s symptoms are caused by EDS or another underlying health condition.
• There is no known cause or cure for EDS. While experts know that EDS is a genetic disorder, the exact cause is unknown. Ehlers-Danlos is a chronic condition that can persist for years or be lifelong.
• There is no diagnostic test for EDS. A lack of formal diagnosis guidelines can make it difficult for doctors to accurately diagnose EDS in affected individuals.
• Symptoms can vary from mild to severe. EDS cases can range from very mild cases to severe cases that present disabling symptoms.

What Is Ehlers-Danlos Syndrome (EDS)?

Ehlers-Danlos Syndrome isn’t a single disease, but a group of genetic conditions that affect the body’s connective tissues (such as a person’s skin, tendons, ligaments, blood vessels, bones, and internal organs).

There are 13 types of EDS to date, the most common one having been discovered just a few short years ago in 2018. Common types of Ehlers-Danlos Syndrome include the following:

1. Hypermobile EDS (hEDS). This is the most common form of EDS. Common symptoms include joint hypermobility, unstable joints, fatigue, joint pain or clicking, digestive issues, skin that easily bruises, urinary incontinence, and mitral valve problems.
2. Classic EDS (cEDS). cEDS is less common than hEDS and primarily affects a person’s skin. Common symptoms include joint hypermobility, unstable joints, stretchy skin, skin that cracks easily, wounds that are slow to heal, hernias, and organ prolapse.
3. Vascular EDS (vEDS). This rare form of EDS is considered the most serious, as it primarily affects blood vessels and internal organs. vEDS can lead to internal bleeding. Common symptoms include skin that bruises easily, thin skin with visible blood vessels, fragile blood vessels that bulge or tear, organ problems (such as bowel tearing or lung collapse), and hypermobile fingers and toes.
4. Kyphoscoliotic EDS (kEDS). kEDS is another rare type of EDS that includes these symptoms: curvature of the spine, joint hypermobility, unstable joints, hypotonia, and skin that stretches/bruises/scars easily.

Other rare EDS types include:

5. Classical-Like EDS (clEDS)
6. Cardiac-Valvular EDS (cvEDS)
7. Arthrochalasia EDS (aEDS)
8. Dermatosparaxis EDS (dEDS)
9. Brittle Cornea Syndrome (BCS)
10. Spondylodysplastic EDS (spEDS)
11. Musculocontractural EDS (mcEDS)
12. Myopathic EDS (mEDS)
13. Periodontal EDS (pEDS)

Affected individuals are also prone to other conditions, including POTS (postural orthostatic tachycardia syndrome) and MCAS (mast cell activations syndrome).

EDS Patients: The Medical Zebras

Those affected by Ehlers-Danlos Syndrome have dubbed the zebra as their mascot, as it symbolizes the need for unity and recognition among sufferers of EDS and other rare diseases.

The phrase originated from a common phrase used to teach medical students: “When you hear hooves, think horses, not zebras.” The advice is intended to teach doctors that the simplest explanation is often the correct one in an effort to avoid misdiagnosing individuals with rare diseases they don’t actually have.

As good-intentioned as this lesson may be, it can also make it all the more challenging for true sufferers of rare diseases (such as EDS patients) to be believed in the medical community. These “zebras” may struggle to receive a proper diagnosis, let alone the treatment they deserve to alleviate symptoms and maintain a better quality of life.

Why EDS Patients Are Overlooked in the Medical Community

Sadly, many individuals with EDS are forced to fight for years to receive a formal diagnosis and begin treatment. In fact, it takes EDS patients an average of 10-12 years to get diagnosed after the onset of symptoms.

This begs the question: Why are so many medical professionals overlooking and dismissing individuals suffering from Ehlers-Danlos Syndrome, especially now that the number of people affected by EDS is “much, much higher” than we initially believed?

The answer may be more complex than we realize. Consider the following 3 reasons why the medical community is failing EDS patients:

#1. EDS primarily affects women.

A 2009 study revealed that the average delay for male EDS patients to receive a diagnosis was 4 years after the onset of symptoms. On the contrary, the average wait for female EDS patients was a staggering 16 years.

Of course, this is nothing new. Our nation has a longstanding history of dismissing health complaints from female patients and routinely denying them pain relief. For centuries, women have been gaslighted and neglected by the medical community.

Statistics show that women with symptoms of heart disease were twice as likely to be diagnosed with a mental illness compared to men with the same symptoms. Furthermore, women who visit the E.R. wait approximately 29% longer than men complaining of similar symptoms.

From having a ruptured ovarian cyst dismissed as routine menstrual cramps to being accused of being dramatic or hysterical while suffering crippling pain, it’s clear that our medical community has a long way to go when it comes to promoting gender equality and non-discriminatory practices at the doctor’s office.

Female Ehlers-Danlos Syndrome patients are no exception to gender bias in the medical field. Many women with EDS are repeatedly told that the pain is just “in their head” and are forced to consult with multiple physicians before obtaining a formal diagnosis if they receive one at all.

#2. Medical silos create the “worst possible model” for EDS patients.

Medical silos may also be contributing to the inefficiency and ineffectiveness of EDS diagnoses. Divisions in medicine can force affected individuals to consult with various physicians and still leave empty-handed without the diagnosis they need.

A person who is suffering from EDS pain may feel the need to visit different specialists to address the staggering array of symptoms they’re experiencing, such as consulting:

• A neurologist for migraines;
• A rheumatologist for joint pain;
• A cardiologist for heart palpitations;
• A gastroenterologist for digestive issues; and/or
• A urologist for bladder incontinence.

A rare disease study revealed that in the quest for an EDS diagnosis, 58% of patients consulted more than 5 doctors while 20% consulted more than 20 physicians.

#3. Some EDS patients suffer from PTSD as a result of medical gaslighting.

There are costs to having your pain routinely dismissed by medical professionals. For some EDS patients, consulting with multiple doctors without receiving any form of validation can take its toll on their mental health and lead to debilitating doubt, hopelessness, and fatigue.

The delay in EDS diagnosis and treatment can worsen what is already a miserable quality of life, as many undiagnosed individuals not only experience chronic pain, but can also undergo breakdowns in their professional and academic careers, not to mention their personal relationships.

In extreme situations, the tendency to overlook and dismiss EDS patients in the medical community can result in horrific consequences for affected individuals and their families, such as suicidal thoughts/attempts and self-harming.

Another alarming consequence of dismissing EDS patients is taking children away from their parents. In 2010, a Texas couple was falsely accused of harming their newborn twin girls, who had unexplained fractures in their legs. It wasn't until a geneticist properly diagnosed the twins with EDS that state authorities allowed the girls to return home, resulting in unnecessary trauma for their family.

How to Create a Better Future for EDS Patients

How can we make the world a better, safer place for sufferers of EDS and other chronic conditions? Ideally, Ehlers-Danlos Syndrome patients can and should receive needed treatment as soon as they are formally diagnosed. In a perfect world, affected individuals will be able to seek and receive an EDS diagnosis immediately after they develop symptoms.

As you can imagine, the simple act of having a name and description of their disorder can drastically improve a person’s mental and emotional wellbeing. Many chronic illness sufferers are forced to spend years or even decades on a quest for answers.

There is also ongoing research to identify the cause of Ehlers-Danlos Syndrome. A study is currently underway at the University of South Carolina, where the Regenerative Medicine and Cell Biology department has discovered a certain gene mutation believed to cause hEDS. The results of the study are currently under peer review.

Of course, true progress is only possible if the medical community is willing to give EDS zebras the validation and recognition they deserve while investing more time, effort, and attention into finding a cure and developing better treatment.

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