Ehlers-Danlos Syndrome and Chiari Malformation: What’s the Connection?

The most common form of Ehlers-Danlos syndrome (EDS type 3) occurs in an estimated 1 in 5,000 people, according to Medline Plus. It is a genetic disorder that affects connective tissues throughout the body. The pain of EDS varies from mild to extreme, but can become chronic over time and require lifelong physical therapy as well as surgical and pharmacological treatment. There are many types of EDS, which may have multiple comorbid conditions. For instance, some individuals with EDS type 3 also have a hindbrain herniation called Chiari malformation (CM). Some research suggests that having EDS may dispose people to developing an acquired form of Type I CM that can be difficult to manage appropriately even with advanced surgical intervention.

Genetics and Birth Defects
While EDS develops before birth, CM in EDS patients can be acquired later in life as a result of the unstable connective tissues throughout the neck and spine pulling the brain downward. Cranio-cervical Instability (CCI) and Tethered Cord Syndrome (TCS) are features found regularly in EDS patients that may contribute to the occurrence or severity of the CM. EDS is considered an inherited disorder because it is caused by genetic mutations that affect collagen. Collagen is a building block of proteins that gives connective tissues their strength. According to the Lister Hill National Center for Biomedical Communication, the following gene mutations may lead to EDS:

· COL1A1 and COL1A2
· COL3A1
· COL5A1 and COL5A2
· ADAMTS2
· TNXB
· PLOD1

Although CM may indeed have a genetic component in the congenital form, the only genetic link in the acquired form is the presence of connective tissue disorders like EDS. While considered an uncommon disorder, CM typically appears during childhood or early adulthood, although symptoms can surface at anytime and may be triggered or exacerbated by accidents, falls or blows to the head. During this stage of development, CM can become apparent because the skull cannot adequately contain the cerebellum and this crowding at the base of the skull can disrupt the essential flow of cerebral spinal fluid (CSF), as well as impinge important nerves and even disrupt blood flow. While CM is largely considered a congenital condition by most neurosurgeons, there is a growing body of evidence that it runs in families, just like EDS, and furthermore, that people with EDS may be predisposed to developing CM, although they were not necessarily born with the CM as a congenital abnormality.

Similarities and Differences in Pain
Perhaps the biggest similarity between EDS and CM is chronic pain. People with EDS are often misconceived as being clumsy or as having imaginary pain because of the fact that they may look completely healthy on the outside. The reality is that the range of pain spans from mild to severe, but can occur anywhere along the body where connective tissues are present. If you suffer from EDS, you may bruise easily and have unusual scars after a wound heals. Your skin may be unusually stretchy, and you might have prominent, visible blood vessels. EDS is also known for causing joint pain and frequent joint dislocations and subluxations throughout the body, which can necessitate the need for joint bracing and careful physical therapy to retain independence and mobility.

CM causes several different types of chronic pain, including a severe characteristic headache at the base of the skull, as well as pain throughout the neck, spine, and throat. It can also trigger severe nerve pain throughout the body. Individuals afflicted with CM may experience serious neurological deficits, trouble swallowing, tinnitus, vision disturbances and balance disruption that can lead to trouble walking and/or clumsiness.

Does EDS Cause CM?
Several studies suggest there is a complex connection between the two disorders that goes beyond the typical “cause and effect” association. According to the Hypermobility Syndromes Association, the causes of CM in a patient with EDS may be different than those in a patient without EDS. Furthermore, EDS patients seem to be more prone to Type 1 CM, which is the most common form of the disorder. The Association reports that a study of 2,813 Type 1 CM patients found that about 357 of them also had EDS symptoms.

More studies are needed to determine precisely how EDS causes CM. The only way to accurately determine the severity and cause of your condition/s is to seek appropriate testing and evaluation from a team of specialized medical professionals including neurologists, neurosurgeons and geneticists. EDS Type 3 can be diagnosed by a geneticist who administers a Beighton Scale Test while CM can be diagnosed by a neurologist or neurosurgeon through an MRI of the brain and cervical spine, preferably an upright MRI in those with suspected connective tissue disorders. Ideally, you should also seek out a doctor that specializes in chronic pain disorders to help manage the daily pain since medical testing isn’t the only assessment of pain disorders.

Kristeen Cherney is a freelance health and lifestyle writer who focuses on preventive measures for a better quality of life. Cherney holds a BA in Communication, and is currently finishing her MA in English.

Resources
· Chiari Malformation (2013, August 21). Retrieved from http://www.mayoclinic.org/diseases-conditions/chiari-malformation/basics/definition/con-20031115
· Chiari Malformation and EDS (2014, April 15). Retrieved from http://hypermobility.org/help-advice/chiari-malformation-eds/
· Ehlers-Danlos Syndrome (n.d.). Retrieved from http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html
· Ehlers-Danlos Syndrome Myths and Facts (2009). Retrieved from http://www.ehlersdanlosnetwork.org/myths-facts.html
· What is Ehlers-Danlos Syndrome? (2006, May). Retrieved from http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome
· Underlying Causes of Dysautonomia
http://www.dysautonomiainternational.org/page.php?ID=150

It's EDS Awareness Month!

No, it is NOT erectile dysfunction syndrome awareness month, nor is "EDS" an acronym for that! EDS stands for Ehlers-Danlos Syndrome and May marks a special month of awareness for this life-altering genetic connective tissue disorder which often results in extreme joint hypermobility and frequent dislocations among myriad other symptoms. I did not learn I had this condition until long after my POTS diagnosis. Many people with EDS also suffer from dysautonomia as a secondary condition. My POTS and TMJ are likely both linked to EDS as an underlying cause.

As a former ballet dancer I have always been very flexible. And that was a major attribute growing up. But never realized I had stretchy skin until an orthopedist pointed it out. And more importantly, I never realized that these seemingly harmless traits would predispose me to other serious health issues like POTS. I am very fortunate that my joints seem to be holding up okay so far (knock on wood!) and feel for all the EDS patients who have already had multiple joint replacements at my age or younger. EDS manifests differently in each patient although most of us share those hallmark traits of flexible skin and joints. Some people have very severe cases which can result in disability and even death, and others are plagued by milder cases that don't impose a major impact on daily life.

If you are extremely flexible and suspect you or someone you know may suffer from EDS, please talk to your doctor about it. And consider getting a referral for genetic testing. Diagnosis can lead to more comprehensive, tailored treatment and can help doctors and surgeons determine safer means of treatment. For instance, when I was struck with appendicitis and found myself in an emergency situation, I was able to inform the surgeon and anesthesiologist of my EDS before surgery. They took extra special care of me because of my EDS diagnosis, paying careful attention to the position of my jaw during surgery, as it is prone to dislocations. Knowledge is power. Take ownership of your health to help your healthcare team provide you with the best care possible!

The What, Where, How, When and Why: Amino Acids

I have grown increasingly intrigued by oral and injectible amino acid therapy ever since stumbling upon lessflexible.com. Amino acids are complicated and I don't claim to know the first thing about them, but I do wonder if they could help improve the strength of our stretchy connective tissues as they did in one young woman's experience. She claims she is less flexible since starting a carefully tailored and administered amino acid therapy regime with her doctor. I would love to be less flexible, as would most EDS sufferers. Amino acid therapy an area that I believe warrants further research in relationship to connective tissue disorders. I am happy to welcome guest blogger Martina from Gracewell Healthcare who graciously tackled the basics of amino acids. 

Essential Amino Acids	Non-essential amino acids
Histidine	Alanine
Isoleucine	Arginine
Leucine	Asparagine
Lysine	Aspartic Acid
Methionine	Cysteine
Phenylalanine	Glutamic Acid
Threonine	Glutamine
Tryptophan	Glycine
Valine	Proline
	Serine
	Tyrosine

The What, Where, How, When and Why: Amino Acids

This guest guest post was generously contributed by Gracewell Healthcare

What: They Are/The Benefits of Them

Amino acids consist of a mixture of carbon, hydrogen, oxygen and nitrogen. The human body naturally stores twenty of these acids. However, another nine must be obtained from food sources. It is absolutely essential that we have every single one of the amino acids, as they each perform a special function. In general terms they combine to form proteins, which are important for the building and maintenance of muscles and processing of the brain. Amino acids have also been found to play a role in weight reduction.

Where: To Find Them

There are a wide range of foods and drinks that are high in protein. Meats such as pork and beef fall under this category and contain the complete variety of amino acids. Less fattening alternatives such as fish and chicken are also complete amino sources. Those individuals who refuse to consume meat or dairy products can still maintain the protein levels by eating vegetables, nuts and whole grains. Health experts advise the consumption of at least 60g of proteins every single day. Some people may even opt to maintain the healthy diet with supplements.

How: To Consume/Recognise/Identify Them

In scientific terms amino acids are formed from a central carbon atom, to which the Carboxlyic acid, Hydrogen, Amino and variable 'R' groups are attached. Amino acids can join together in the formation of dipeptides and polypeptides. They have fairly complex names such as phenylalanine, which is known as a provider of energy and tryptophan, which can combat sleep deprivation and depression. As previously mentioned, the standard amino acids form part of our natural DNA structure. The essential amino acids must be consumed as food or drink.

When: They Come Into Play/Their Function in the Human Body

A high profile scientist by the name of Dr. Elson Haas has stated that around one fifth of the human body is made up of proteins. They are a major constituent part of the eyes, skin, muscle and brain. Without these proteins human beings wouldn't exist. Apart from keeping us alive the proteins and amino acids that they are made up from play a key role in the processing of messages from the brain and generation of energy. People who are unable to maintain their amino acid levels may experience depression, insomnia and extreme lethargy.

Why: They Are Important

It is essential that humans consume foods and drinks containing amino acids on a daily basis. That's because the body uses them in a variety of means, including the building of organ and muscle tissue and development of hormones such as adrenaline. It is definitely worth taking supplements that include vital aminos such as Threonine, which prevents the onset of illness and disease, and  Leucine, which allows for the processing of vitamins, minerals and protein. Anybody who fears that they may not be consuming enough amino acids or requires assistance on the selection of supplements is advised to see a medical expert. 

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Perfect Turnout Comes With A Price

As any ballet dancer knows, perfect turnout is considered paramount to being successful in the ballet world. Here is an example of picture perfect turnout:

Now, for many of us with EDS, this position comes naturally. It always did for me. As a child my ballet teacher was often impressed by my innate "perfect turnout" and would use me as an example to demonstrate for the rest of the class. A few of my peers were able to easily emulate this ideal turnout, and others could barely get their feet to point anywhere but straight forward. They were probably the "normal" ones in the bunch. Little did my teacher know that I was simply a genetic freak anomaly who didn't have to work to acquire this turnout at all. I loved ballet. It came pretty naturally and I was able to use my body as a vessel for self-expression. Had I have known that I may have been doing more harm than good to my body though, perhaps I wouldn't have let my teacher work me so hard. Perhaps I wouldn't have danced ballet at all actually.



Everytime I watch Dance Moms and see Brooke Hyland engage in her picturesque contortions I can't help but wonder if she has EDS and want to warn her to slow down now because her body will thank her for it later. I worry that any child who exhibits extreme hypermobility may be at risk for extreme pain, suffering and even surgeries later in life. Especially if the hypermobility is encouraged by demanding teachers (like Abby Lee Miller!) or even parents who don't realize the potential consequences of overstretching their children.



Perhaps someday the medical population will realize that EDS is much more common than the literature recognizes and start testing for hypermobility routinely at physicals. They should definitely start screening for it at ballet schools, gymnastics gyms, etc. If nothing else, early screening may enable parents to help their kids protect their joints through good practices and bracing at an earlier age, thereby prolonging the life of a problematic joint.

Instead it is often considered cool to share these party tricks with others. In fact, our culture values hypermobility on display. Everytime I watched street performer and self-described extreme contortionist hiphop dancer "Turf" do his thing on America's Got Talent I couldn't help but root for him. Not only was he a likable guy, it also seems likely that he will endure some medical problems down the road as a result of his dancing now.


Disclaimer: It probably goes without saying, but just in case you're new to this blog I should mention that I am not a licensed physician and therefore not qualified to make medical diagnoses for any of the aforementioned individuals based on what I have seen them do on TV. They may or may not have ehlers-danlos syndrome.