Disconnnected... Ehlers-Danlos syndrome: Some symptoms point to a need for greater awareness among dental professionals

Some symptoms point to a need for greater awareness among dental professionals

BY Judith M. Stein, RDH

Picture a jet black computer screen with a sweeping band of lime green moving in a continuous circular motion. This thin, ever-moving band of color is queued to pick up the slightest discrepancy or motion in a particular spatial area. If something is detected, the object visually appears on the blackened screen or an audio beeping sound will alert you of its presence. If the situation has the potential for great danger, i.e., collision, it would most likely bring the observer to full alert. If this sweeping band of color detects a small bird in flight, a less heightened reaction may occur. The challenge is that we don't always know the significance of an alert until we're on the backside of its effect.

What if we compared this radar screen to that of the human brain? What if that sweeping band of movement were cranial synapses looking for critical activity, significant changes, knowledge, or dangerous situations. Personally, I would love to receive radar alerts of incoming knowledge classified according to relevant importance. I also want to retain every piece of critical data that flies across my cranial radar screen. However, what is disheartening to me is the complete absence of certain knowledge, when information doesn't even make it onto my screen of cognizance; when critical information flies "under the radar."

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Other articles by Stein

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According to Urban Dictionary, under the radar means, "When someone is in a situation where very little or no attention is drawn to them."

It's interesting to note that, in aeronautical terms, flying under the radar is actually possible.¹ Certain small jets with the ability to fly low to the ground can avoid being picked up by radar. Large mountains and other landforms can also block radar transmissions. What about the human radar screen of knowledge? Any guesses as to what could interfere with our ability to become aware of knowledge and/or retain such information? In today's world, we could exist in a vacuum where information comes flying at us via Internet and social media at megaspeeds. This is where our daily lives and routines have exploded and could even jeopardize our ability to tune in to our knowledge radar screen.

Well, if I still have your attention and you haven't aborted your interest, allow me to place Ehlers-Danlos syndrome before you.

Ehlers-Danlos syndrome (EDS) was not only "under my knowledge radar," it wasn't even on my screen of awareness. What launched this syndrome into my awareness was a community tragedy where a man of great honor died very unexpectantly due to undiagnosed EDS. To say I was deeply saddened and shocked by his passing is an understatement. But this is not about me; it's about sharing what I've learned with the hope that others can be blessed.

Defining EDS

What is Ehlers-Danlos syndrome and how does it present itself orally? As stated in an online article published by Mayo Clinic, "Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues - primarily your skin, joints, and blood vessel walls."² It does so by altering the collagen structure and function in the body. Collagen is the fibrous protein responsible for providing strength as well as elasticity to the connective tissue. Someone who lives with this syndrome will present with overly flexible joints and very stretchy and fragile skin.

Although this condition may not appear life threatening and generally is not, the more extreme profile of EDS does have the potential to be catastrophic. The most severe presentation of EDS can affect blood vessel walls, intestines, and/or the uterus, causing them to rupture. This could lead to a devastating outcome for those who suffer from this form of Ehlers-Danlos syndrome.

It is important to note the prevalence of this medical condition. The National Institutes of Health (NIH) has estimated that approximately one in 5,000 individuals worldwide may suffer from EDS.³ This is not a small or insignificant number of people.

To date, the medical community has grouped EDS into six categories based on the signs and symptoms of this connective tissue disorder.⁴ The following includes a brief explanation.

Classical EDS - Classical Ehlers-Danlos syndrome is characterized by highly elastic, soft, and doughy skin, unusual scarring, and loose joints.⁵ As a dental professional, it may at first glance seem impossible to pick up on the subtle signs and symptoms of classical EDS, but I challenge you to keep this medical condition on your radar screen. Observing unusual wide scarring or hypermobility of joints could help alert the patient to the need for additional medical care to rule out more serious forms of EDS.

Hypermobility EDS - Anyone diagnosed with hypermobility EDS may present with several signs and symptoms that could cause confusion for the dental professional. This form of EDS is the most common. Anyone suffering from this has very unstable large and small joints (shoulders, knees, and jaw) that tend to dislocate very easily.⁶ An EDS sufferer may also have chronic joint pain. Question your patients if they complain that their jaw frequently slips out of place. If anyone reading this has experienced TMJ discomfort caused by dislocation, you know to take this condition very seriously. There is also evidence that EDS sufferers present with mitral valve dysfunction,⁷as well as a high, narrow palate and/or dental crowding. It may be difficult for the dental professional to use dental crowding as a criterion for medical referral, but what if mitral valve condition, high palate, and overly flexible joints are also part of your evaluation? Keeping an up-to-date medical history would allow a simple referral to occur for any needed medical attention.

Vascular EDS - At this moment, I hope to bring your radar screen of knowledge to full alert. Vascular EDS is the most serious form of Ehlers-Danlos syndrome and has the greatest potential for fatal consequences. It is not easy to diagnose but not impossible to detect.

Vascular EDS is characterized by the possibility of spontaneous arterial or organ rupture, including vessels of the heart, intestines, or uterus. Sadly, even minor trauma can cause an organ rupture if a patient is not aware he or she suffers from this syndrome.

Please note the following signs and symptoms of vascular Ehlers-Danlos:8

• Thin, translucent skin (especially noticeable on the chest/abdomen) that is not overly stretchy

• Easy bruising (spontaneous or with minimal trauma)

• Characteristic facial appearance (thin lips, small chin, thin nose, large eyes)

• An aged appearance to the extremities, particularly the hands

• Hypermobility of small joints

• Gingival recession

• Early-onset varicose veins

• Tendon/muscle rupture

• Chronic joint dislocations

• Congenital dislocation of the hips

• Talipes equinovarus (clubfoot)

As I view this list of vascular EDS markers, I realize that as a dental professional, I could easily identify three or four possible indicators while working on a patient. This syndrome need no longer fly under my knowledge radar screen! I now consider making a simple medical referral if a patient presents with any combination of symptoms from the major diagnostic criteria. Advising a patient to seek medical treatment for definitive diagnosis and future treatment does not need to be done on full alert. Calmly explaining to patients that medical collaboration is in their best interest is a simple courtesy and possibly life-saving action.

Kyphoscoliosis EDS - Kyphoscoliosis EDS can be considered at birth if a child presents with severely weak muscle tone. For a definitive diagnosis, a simple urine test is performed to check for a collagen-modifying enzyme deficiency. A child with this form of EDS may also present with a progressive form of scoliosis and/or possibly hearing impairment.⁹ Unfortunately, this type of EDS carries the threat of arterial rupture.¹⁰ Due to the inherited qualities of this variation of EDS, we must remain vigilant in keeping our knowledge radar tuned in to this syndrome. If multiple family members are part of your dental practice, watching for other signs and symptoms of EDS may benefit the quality of your treatment and their lives. Prepare for the worst. Hope for the best.

Arthrochalasia EDS - The arthrochalasia form of EDS is most often characterized and set apart from the other categories by the presence of congenital hip dislocations.¹¹ A patient dealing with this variation of EDS will also present with mild muscle weakness, unusual tissue scarring, tissue fragileness, and easy bruising.¹²For me, the awareness of this form of EDS plays out when I'm seating or dismissing a patient. If frequent hip dislocations occur due to EDS, our approach to patient safety and comfort must always be addressed. I adjust the dental chair accordingly to minimize hip challenges. I make sure there are no obstructions where the patient may need to walk. I prioritize clear and consistent communication with anyone suffering from EDS so I may serve them to the best of my ability.

Dermatosparaxis EDS - To date, there is a very small percentage of EDS sufferers who live with dermatosparaxis. It is interesting to note that although there is severe skin fragility and sagginess associated with dermatosparaxis, there is no unusual tissue scarring. Thankfully, wound healing appears normal. The most obvious sign of this variation of EDS is called cutis laxa, which is marked by inelastic skin, which may hang in pendulous folds^.13

I believe we each bring our best to every patient we serve. With that said, I believe we must also acknowledge our humanness. We aren't perfect, but we can certainly strive to give our best every day to continual learning and giving back to the patients we serve. I challenge you to keep Ehlers-Danlos syndrome on your radar screen. It was once shared with me that you don't know ... until you know. Well, now we know. Let's stay alert! RDH

Ehlers-Danlos syndrome on the dental radar

With the recognition and knowledge of EDS on our radar, how should we care for dental patients who must manage the effects of this syndrome on a daily basis? I offer the following practical implementations to better serve dental patients with EDS.

First and foremost, be alert. This is not a syndrome many are aware of, even if they suffer from its effects. If a patient presents with several unexplained concerns that point to an EDS diagnosis, educate and refer the patient to his or her medical provider. I offer the following as a simple example. You begin treating a patient who has minimal plaque and an excellent home-care regimen, but has generalized bleeding throughout the oral cavity during prophylaxis treatment. You may also see unexplained tissue recession. You notice a high palatal vault, thin lips, small chin, thin nose, and large eyes. The patient included in the medical history a diagnosis of mitral valve dysfunction. After my research of EDS, I would educate and refer my patients to their health-care providers. Having this conversation may at first feel uncomfortable, but if handled calmly and with compassion, lives are blessed. Remember, undiagnosed vascular EDS could have life-threatening consequences.

Include Ehlers-Danlos syndrome on your dental practice's health history forms. If you become aware of any patients suffering from EDS, consider adjusting your dental routines to meet their unique needs.

• Do not overextend the TMJ for a prolonged length of time to avoid dislocation and/or discomfort.

• Minimize the risk of bruising or joint injury by clearing away objects that could obstruct a walking path into your operatory.

• While using dental instruments, do so very gently yet thoroughly. Remember, the risk for gingival bleeding, periodontal challenges, and slow wound healing is higher with an EDS patient.¹⁴

• Inquire if an EDS patient deals with chronic joint pain that interferes with home-care routines. You may need to strongly recommend a more frequent continuing-care schedule, a power toothbrush, and/or Waterpik to assist your patient.

• Consider evaluating your patient's nutritional needs for vitamin C. Vitamin C helps collagen synthesis and aids in wound healing.¹⁴ For an EDS sufferer, addressing this component of the disease could add quality to the person's life and help minimize bleeding from dental procedures. For adults, the recommended dietary reference intake for vitamin C is 65 to 90 mg a day, with the upper limit at 2,000 mg a day.¹⁵ As always, advise your patients to seek medical support if they choose to supplement their vitamin C intake.

JUDITH M. STEIN, RDH, is a 1981 graduate of Kellogg Community College in Battle Creek, Mich. Judy has enjoyed a variety of professional opportunities in her hygiene career, is committed to lifelong learning, and is now employed in private practice. The author is an active volunteer in several professional, community, and faith organizations. She can be reached at [email protected].