EDS is a genetic disorder that’s present at birth, but symptoms may not appear until later in life. Symptoms can range from mild to severe, and vary by type of EDS. Milder forms are often not diagnosed until early adulthood, while more severe types are usually diagnosed in childhood. EDS can also affect the entire body, and its symptoms can mimic other conditions, making it difficult to diagnose. For example, people with EDS are often misdiagnosed with fibromyalgia, ME/chronic fatigue syndrome, or irritable bowel syndrome.

How do you get EDS?
Our group of contributors agree on a few typical patterns that can set an EDS onset to start. There is no medical research yet to validate this, it’s a working theory based on personal lived experiences.

Onset can happen especially during these times:

• At birth, as EDS of all types are genetically passed down
• Delay in onset or symptoms until adolescence and early adulthood when hormonal changes or puberty cause changes in the body
• After an injury or car accident causing trauma to the body
• Following a virus, COVID, or Epstein-Barr infection
• Following a pregnancy and/or childbirth or other hormonal surge change

Also see Dr. Alan Spanos’s guide on how to get through an EDS diagnosis from 2019. If you are newly diagnosed, check out this patient perspective guide INSERT LINK TO COX DOC THere is a Test for hEDS

How is EDS inherited?
The two main ways EDS is inherited are: autosomal dominant inheritance (hypermobile, classical and vascular EDS) – the faulty gene that causes EDS is passed on by 1 parent, and there’s a 50% risk of each of their children developing the condition. Depending on the type of EDS, the faulty gene may have been inherited from 1 parent or both parents. Sometimes the faulty gene is not inherited, but occurs in the person for the first time. A person with EDS can only pass on the same type of EDS to their children. For example, the children of someone with hypermobile EDS cannot inherit vascular EDS. The severity of the condition can vary within the same family. The different types of EDS are caused by faults in certain genes that make connective tissue weaker.

Most Common Types of Ehlers-Danlos Syndromes (EDS)
There are 13 types of EDS, most of which are very rare. Hypermobile EDS (hEDS) is the most common type. Other types of EDS include classical EDS, vascular EDS and kyphoscoliotic EDS. The EDS Support UK nonprofit website has more information about the different types of EDS https://www.ehlers-danlos.org/what-is-eds/information-on-eds/types-of-eds/.

Diagnostic Challenges

The diagnosis of Ehlers-Danlos Syndromes (EDS) can indeed be a lengthy and complex journey for many patients, often described as a diagnostic odyssey. Here are some key reasons why, along with resources for more detailed information:

Variability of Symptoms

• EDS symptoms can vary widely not only between the different types but also among individuals with the same type. No patient experiences the same issues and/or instability and consequential pain or disruption in their quality of life depending on which parts of their bodies are impacted. This variability can lead to misdiagnosis or dismissal of symptoms as unrelated.
• More Information: The Ehlers-Danlos Society – Symptoms

Lack of Awareness and Expertise

• Many healthcare providers are not familiar with EDS, particularly less common types, which can delay diagnosis as patients often go through numerous specialists before finding one knowledgeable about EDS. This frustration can be very invalidating and demoralizing for patients searching for answers to strange symptoms that seem not make sense.

Overlapping Features with Other Disorders

• EDS shares symptoms with other connective tissue disorders like Marfan Syndrome and Loeys-Dietz Syndrome, complicating the diagnostic process.
• More Information: Genetic and Rare Diseases Information Center – Ehlers-Danlos Syndromes

Absence of Simple Diagnostic Tests 

• While some types of EDS can be confirmed with genetic testing, the most common type, hypermobile EDS (hEDS), has no specific genetic marker and is diagnosed based on clinical evaluation, which is subjective and relies heavily on the clinician’s experience, or lack of awareness often leading to dismissive practices by healthcare providers who weren’t trained in connective tissue disorders.

Dismissive Doctors

• Patients are often gaslit by being dismissed and disbelieved by unaware healthcare providers (and loved ones) leading to psychological distress. Learn more about this gaslighting phenomenon in the article from STAT News titled, “Revenge of the Gaslit Patients.“

Average Time to Diagnosis

• Studies and surveys within the EDS community suggest that it can take years, and sometimes decades, to receive an accurate diagnosis. The average time reported varies, but it is not uncommon for the process to take over 12-14 years. Others swear it’s closer to 17-20 years. Harvard published a report in 2017 stating obtaining an EDS diagnosis “often takes an average of 10 to 20 years to receive a diagnosis of EDS, with many people not receiving an accurate diagnosis until well into their 40s. As with many medical conditions, EDS disproportionately impacts women.” There is a long-time running poll with patients on EDSAwareness.com that nearly 10k people participated in with results suggesting more than 20 years to diagnosis.  Hopefully, new research, diagnostic tools of the future and more understanding will guide future generation to more hope for clarity and ease in the diagnostic odyssey. A research study led and published in 2023 by Dr. Clair Francomano states the diagnostic odyssey…
  • “During this time, patients often accumulate numerous alternative labels for their symptoms. For instance, one study found that patients with hEDS are often misdiagnosed with fibromyalgia, potentially because of a significant similarity in presentation between it and hypermobility.⁷ Another study has suggested that similarities between complex regional pain syndrome and EDS have also led to misdiagnosis.”

Media Attention is Increasing Awareness

• One CNN journalist outlined her personal experiences in a widely read article to bring awareness to the often misunderstood, misdiagnosed and difficult to diagnose disorder that is EDS titled, “Ehlers-Danlos syndrome affects millions with the same ‘bendy body’ disease as my daughter. Why isn’t the medical profession paying more attention?”
• A Washington Post reporter wrote about a patient who became a doctor to help solve these challenges that took the social media landscape like a viral storm with more 26,000 shares titled, “A doctor struggled with an incurable syndrome. Now she helps others overcome it” featuring Dr. Alissa Zingman.

How To Simplify Getting Diagnosed Properly

There are several resource to guide patients to get a diagnosis, which is often a 10-20+ year diagnostic journey. See our guide in how to simplify the process in “Overwhelmed & Underdiagnosed,” which is likely how you feel. Check out the GP Toolkit from the Ehlers-Danlos Support UK nonprofit or use the guide from Dr. Alan Spanos (an expert EDS pain management doctor now retired) to share with your doctor on ways to properly be diagnosed if you’re in an area with unaware providers or your primary care provider will not or cannot, which is unfortunately still very common.

Diagnostic Criterion: The Controversial 2017 Criterion for Diagnosing Hypermobile EDS
New international criteria for diagnosing hypermobile EDS (hEDS) were published in 2017. Learn more about this on our Controversy page LINK.  To be diagnosed with hEDS, one needs to meet three separate groups of criteria below according to the EDS Society, the largest nonprofit dedicated to EDS:

1. An assessment of present and historical hypermobility using a scoring system called the Beighton Score.
2. The second criterion is divided into three features. To meet this criterion, an individual must meet two of these three features.
   1. Having at least five from a list of 12 signs and symptoms (listed below) that can be identified by physical examination and additional testing. These signs and symptoms include: soft/velvety/stretchy skin, stretchmarks, hernias, prolapse of organs (when they slip down from their normal position), and/or mitral valve prolapse.
   2. Having a close family member (parent, child, brother or sister) who independently meets the criteria for a diagnosis of hypermobile EDS, though they may have different and variable symptoms.
   3. Having significant pain or unstable joints recurring daily for at least 3 months.
3. Other types of EDS and related connective tissue disorders need to have been considered by a doctor and ruled out.

Many doctors might refer potential patients to a genetic counselor for DNA sequencing tests to determine the possibility of EDS and, if so, its type. This is an important step towards answers, especially if you might have one of the more rare types of EDS requiring more complex medical care and life restructuring. This can be ordered by an EDS-aware geneticist (who are rare). Try Googling Dr. Clair Francomano to get started, as she is thought by many to be the leader in the field and research. Others more recently with technological innovations, have ordered and self-paid for full spectrum DNA sequencing through private healthcare companies. It can be helpful in identifying genes for most types of EDS and identification of the MTHFR gene, etc. But be aware of potential scams. Remember, if they have not yet identified the gene(s) for hEDS, how can those companies claim to test for it?

Impact on Life

Most types of Ehlers-Danlos syndrome don’t affect or lower your life expectancy, according to most healthcare experts as shared by the Cleveland Clinic. If you have EDS that affects your blood vessels (vascular Ehlers-Danlos syndrome), you might have an increased risk of experiencing a stroke or other fatal vascular issues. EDS affected persons can live (mostly) like normal people; however, they may feel some constraints in their mobility and chronically disabling pain. People with EDS may have higher risk for infections. Fragile skin and poor healing may lead to skin infections. EDSrs often have a lowered immune system, possibly due to chronic stress on multiple body systems or an IgG-3 deficiency. EDS can affect people in different ways. For some, the condition is relatively mild, while for others their symptoms can be disabling. Some of the rare, severe types can be life threatening.

As a genetic disorder that affects collagen formation and function, which can impact almost every organ system. The most common types of EDS cause symptoms like loose joints and fragile skin, but rare types can lead to fatal complications. Vascular EDS, which affects blood vessels, is a rare type that can be especially dangerous. People with vascular EDS have a high risk of complications related to bleeding or fragile organs and tissues. For example, vascular EDS can weaken the aorta, the heart’s largest artery, as well as other arteries in the body. If any of these larger blood vessels rupture, it can be fatal. Vascular EDS can also weaken the walls of the uterus or large intestines, which can also rupture. By age 40, people with vascular EDS have an 80% risk of life-threatening complications according to some studies. That’s what medical research says is evidence. But if you ask the average EDS patient, they will likely describe their life as largely different in various was including disability, frequent injury, chronic pain flares, and many more complex care challenges both physically, emotionally and socially. A guide for the complexities of the impact of a multifaceted chronic illness such as hypermobility can bring, check out Christie Cox’s book, “Holding It All Together WHen You’re Hypermobile” on Amazon or at her author website. Many readers say the patient perspective she provides is helpful to address the roller coaster of reactions and emotions typically faced while offering hope and how to instructions on ways to manage EDS life.