If you are like me, you may have felt there was something different about you growing up. Maybe you could amuse your friends with your bendy body tricks. Or perhaps you had weird health issues that never seemed to make sense and doctors could never find a reason for your discomfort. As it is commonly said now in the Ehlers Danlos community, if you can't connect the issues, think connective tissues.
What is Ehlers Danlos Syndrome?
Ehlers Danlos Syndrome (EDS) is a group of genetic connective tissue disorders that affect collagen due to inherent genetic mutations. Connective tissue is in just about every tissue in the body including blood, skin, fat, cartilage, and bone. Connective tissue builds the framework of the human body. Connective tissue is what protects and supports our organs to function.
There are various types of EDS. Some of the types are considered an autosomal dominant genetic disorder. This means an affected individual has a 50% chance of passing it on to their children. Other types are autosomal recessive which means someone needs to inherit two genes, one from each parent, in order to manifest the syndrome. If someone only inherits one autosomal recessive gene from one parent they will be considered a carrier. Therefore, a parent has a 25% chance of passing it on to their children. Finally, some cases are considered “de novo” or new which means these genetic mutations occur spontaneously without any prior family history.
It is currently estimated that some subtypes of EDS can occur as frequently as 1 in 5,000 to 1 in 20,000 while other subtypes are much more rare; it is difficult to estimate the prevalence of the condition because many people suffering from this syndrome go undiagnosed or misdiagnosed for years. It is not uncommon for an individual to be in their 30’s or older before they receive proper diagnosis. As education and awareness increase about this syndrome more people are finding answers to their mysterious array of symptoms.
With so many organ systems involving connective tissue, EDS can predispose patients to a variety of seemingly unrelated symptoms. Connective tissue creates the building blocks of the human body. This means connective tissue helps build the ligaments, tendons, bones, cartilage, blood vessels, eyes, lungs, gastrointestinal tract, hair, skin, nails, etc. This allows the syndrome to manifest in a variety of seemingly unrelated signs and symptoms. As mentioned above, a common phrase in the Ehlers Danlos community is, “If you can’t connect the issues, think connective tissues.” The medical definition for a syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality or condition. This is why Ehlers Danlos Syndrome is not a disease, but a syndrome.
The most commonly known hallmarks of EDS include stretchy or fragile skin, easy bruising, joint hyper-mobility, frequent dislocations and/or subluxations, and chronic joint pain. However, the signs and symptoms of this syndrome are vast and also vary based on the individual and the type of EDS that individual has. Currently there are 13 different subtypes of Ehlers Danlos Syndrome.
The 13 Subtypes of Ehlers Danlos Syndrome
There are currently 13 subtypes of Ehlers Danlos Syndrome. According to the 2017 International Diagnostic Criteria presented on the Ehlers Danlos Society website the 13 subtypes are as follows:
Classical EDS (cEDS)
Classical-like EDS (clEDS)
Cardiac-valvular EDS (cvEDS)
Vascular EDS (vEDS)
Arthrochalasia EDS (aEDS)
Dermatosparaxis EDS (dEDS)
Kyphoscoliotic EDS (kEDS)
Brittle Cornea Syndrome (BCS)
Spondylodysplastic EDS (spEDS)
Musculocontractural EDS (mcEDS)
Myopathic EDS (mEDS)
Periodontal EDS (pEDS)
Hypermobile Ehlers Danlos Syndrome
"Hypermobile Ehlers Danlos Syndrome" is the most common subtype of EDS. The hyper-mobile subtype is unique because of the confirming genetic marker for this subtype is still unknown. All final diagnoses of the 12 other subtypes of Ehlers Danlos Syndrome are confirmed through genetic testing. However, since the genetic marker contributing to Hypermobile Ehlers Danlos Syndrome is still unknown, the final diagnosis for this subtype is considered a clinical diagnosis which makes it different from the other subtypes.
Sign and Symptoms of EDS
The range of signs and symptoms of Ehlers Danlos Syndrome are wide and varied. The 13 different subtypes all manifest in different ways. In addition, the syndrome manifests in differing degrees for each individual and the severity of the syndrome’s effects can change throughout different periods of life.
Some affected individuals work full time jobs on their feet while others are able to manage their symptoms while working at home; unfortunately, some affected individuals are in a state of disability and unable to perform an occupation or live alone and need full time support. The wide variety of signs and symptoms and the varying degrees of severity make Ehlers Danlos Syndrome a complex condition. The following are some of the possible signs and symptoms of this condition:
Stretchy or loose skin
Soft, velvet skin
Increased, easy bruising
Arachnodactyly (long, slender fingers and toes)
Marfanoid type features (long, slender arms and legs)
Increased wingspan (arm to height ratio)
Mitral valve prolapse
Easy skin tearing and scarring
Delayed wound healing
Dizziness, blackouts/drop attacks
Poor temperature regulation
Multiple digestive/GI issues
Abdominal pain and bloating
Organ and pelvic floor prolapse
Ehlers Danlos Syndrome Diagnosis
The path to diagnosis for someone who suffers from Ehlers Danlos Syndrome is often long and complicated. EDS is considered a genetic condition, in other words a person is born with it. One would think due to its genetic nature this would result in earlier diagnoses in childhood; unfortunately, this is not the case. EDS is not currently part of any standard infant or childhood screening process and it is often mistaken for other conditions because it has so many varying signs and symptoms. This often leaves an affected individual undiagnosed for years. It is not uncommon for someone to be diagnosed in their thirties or later in life.
Is There an Ehlers Danlos Syndrome test?
So, is there a test for Ehlers Danlos Syndrome? The answer is “it’s complicated.” Aside from the subtype, "Hypermobile Ehlers Danlos Syndrome", there is a test to screen for the other 12 types of EDS. A visit to the geneticists and a blood work sample for testing is all that’s needed to diagnose an individual with one of these 12 types. These 12 types are rarer forms of EDS. They also have varying degrees of risk and complication. For example, vascular Ehlers Danlos Syndrome has the potential to affect life expectancy as it can cause increased risk of hemorrhage, stroke, and aneurysm. This is why it is important to always be screened by a geneticist if there is any chance an individual suffers from EDS.
Hypermobile Ehlers Danlos Syndrome is the most prevalent form of EDS and this is where things get a bit more complicated in the diagnostic process. Unfortunately, at this time there is still no genetic test to screen for Hypermobile Ehlers Danlos Syndrome. Therefore, a clinical diagnosis is currently the gold standard.
A clinical diagnosis requires a doctor to assess multiple factors of the assessment is the Beighton Scoring System for hypermobility. This system allows the doctor to assess the
range of motion of particular joints and determine if they are hypermobile. In addition, the doctor will assess the patients signs, symptoms, health history, and family history to piece together the puzzle and determine whether or not the patient has hypermobile Ehlers Danlos Syndrome.
If you would like to learn more about the diagnosis process for Hypermobile Ehlers Danlos Syndrome you can visit The Ehlers Danlos Society website for a wealth of information. They have provided a checklist based on the 2017 Diagnostic Criteria.
Who are the Best Doctors Ehlers Danlos Syndrome?
Ehlers Danlos syndrome is a complex condition. It is called a syndrome because it involves multiple organ systems in the body and produces various issues and symptoms. Because it is a genetic condition present at birth throughout the individual's lifetime, there is no cure for EDS. This condition affects collagen, it affects connective tissue. This means the very framework of the person’s body is fundamentally different from someone who does not have it.
Because it is a lifetime condition, there is no cure or one form of treatment that can “fix” it. However, there are various forms of tests, screenings, medications, and treatments that can help a patient manage their life long journey. An individual with EDSdoes not need one doctor but a team of doctors to be a part of their management team.
First and foremost, an individual will need a thorough primary care doctor and geneticists to help them start the process of diagnosis and coordinate future management. Cardiovascular and gastroenterologist may then be added to the team to help screen for issues like heart defects, aneurysms, blood pressure and circulation issues like POTS (postural orthostatic tachycardia syndrome), gastroparesis, acid reflux, IBS (irritable bowel syndrome), malabsorption and nutrient deficiencies, etc.
Neurologists, pain management, orthopedists, physical therapists and upper cervical chiropractors, can all help an individual with Ehlers Danlos Syndrome manage their musculoskeletal issues. These issues can range from chronic joint pain, early onset osteoarthritis and joint degeneration, subluxation and dislocations, muscle weakness, cervicogenic migraines, etc.
It is important to find some type of strengthening and exercise protocol that can increase muscle stability and endurance without causing further injury. One well known movement therapist is Jeannie Di Bon. Other options include physical therapy protocols like redcord or pelvic floor therapy. It is best to find a physical therapist that is able to spend ample time one on one with the patient to evaluate and manage the patient's unique rehabilitation needs.
Other various specialists may be needed at different stages and times. For example, a patient may need to see an immunologist to deal with hypersensitive reactions to allergens. In fact, mast cell activation syndrome (MCAS) is a comorbidity of Ehlers Danlos Syndrome. Or a patient may need to see an EDS aware OBGYN during pregnancy. It can also be helpful for a patient to also see a counseling psychologist to process the mental journey of living with a lifetime condition.
Ehlers Danlos Syndrome can affect just about every organ system in the body which means at some point an affected individual may need to visit a specialist in each of these organ systems. This can become very overwhelming, not to mention time consuming and expensive for an individual. It is important for a person with Ehlers Danlos Syndrome to find a supportive team of healthcare professionals, and a personal support system whether that be family at home, a health coach, or a virtual support group online.
A person living with Ehlers Danlos Syndrome cannot address all of the symptoms and affected organ systems all at once. Having the support of others is crucial. Organizing and prioritizing their healthcare needs is also an important part of the process of addressing this condition. As the patient gains understanding and awareness they can build a list of health goals and begin to address them step by step over time.
Special Note From The Author
I am on my own life long journey with Ehlers Danlos Syndrome. I am still learning about this complicated syndrome. After 15 years of debilitating neck and back pain I found relief with an upper cervical specialty called Orthospinology. I have decided to dedicate my career to doing this life changing work and helping others get out of pain. My goal is to spread awareness about Ehlers Danlos Syndrome within the health professional community and also to spread awareness about the importance of upper cervical care for patients who live with hypermobility and craniocervical instability.
Upper cervical chiropractic offers a safe way to correct spinal misalignments. The light pressure and precise nature of the upper cervical adjustment does not stretch the ligaments or risk increasing neck instability. With restored spinal alignment, patients experience a decrease in muscle spasms and pain. Proper upper cervical alignment also creates decreased pressure on the spinal cord and on the vertebral arteries (blood vessels that feed the brain). As a result, many other common symptoms of EDS such as brain fog, fatigue, headaches, and dizziness can also be reduced by an upper cervical adjustment.
Dr.Jill Driver, DC