Hypermobility is a symptom that can be associated with various disorders including connective tissue disorders. Diagnosis is based on clinical evaluation and family history.
Hypermobile Ehlers-Danlos syndrome (hEDS) vs. Hypermobility Spectrum Disorders (HSD): What’s the Difference?
The Ehlers Danlos Society has all of the latest information for all things regarding hypermobility syndromes.
Please read the information on their comprehensive website which explains this in full detail.
I will provide you with many resources and tools to address your symptoms.
There are inheritance patterns in hEDS and HSD (meaning there is a genetic component), however there is currently no known genetic test to prove this. The EDS society may be close to defining the genetic component of hEDS/HSD. I know from experience that many people with hypermobility have very common symptoms (Associated Findings) and also that some of these symptoms “run in families”.
At this time, genetic testing is unlikely to detect a specific gene alteration/mutation in patients with hypermobility spectrum disorder or hypermobile EDS. I can still do genetic testing for connective tissue disorders (CTDs) and Ehlers Danlos Syndrome to rule out other more concerning forms of CTDs. Despite the lack of a defined genetic cause at this time, these conditions typically follow an autosomal dominant pattern of inheritance within a family.
What does this mean? The majority of our genes exist in pairs. One copy of each gene is inherited from our mother and one from our father at conception. Autosomal dominant conditions happen when only one copy of the gene pair has a mutation/alteration. An individual who is affected with an autosomal dominant genetic condition has a 1 in 2 or 50% chance to transmit the condition to each child. The severity of the condition varies from person to person, even within the same family.
There is a growing body of evidence and research that is pointing to an inflammatory or auto-immune cause to these symptoms. One of these inflammatory disorders is called Mast Cell Activation Syndrome.
There are some basic blood tests that may show changes related to inflammation and auto immunity. We will discuss those labs tests at our first or second visit.
Hypermobile Ehlers-Danlos
While hypermobile EDS (hEDS) remains the only Ehlers Danlos Syndrome (EDS) without a confirmed genetic marker, the criteria for hEDS diagnosis have been tightened in the 1997 guidelines as determined by international consensus. The essential difference between HSD and hEDS lies in the stricter criteria for hEDS compared to the HSD.
If someone was diagnosed with hEDS before the 2017 criteria, there’s no reason to seek a new diagnosis unless you decide to participate in new research or need to be reassessed for some other reason.
HSD vs. hEDS: The New Diagnostic Criteria
• Under the 2017 criteria, in order to make a HSD or hEDS diagnosis, all other explanations for symptoms should be explored first, making sure they don’t better fit another EDS subtype, injury, or another connective tissue disorder like Marfan.
• Symptoms and family history are then compared to the new criteria for hEDS.
• If they don’t match the new criteria, providers then look at the new criteria for HSD.
• Distinguishing the subtype of HSD relies on three factors:
o Which joints are hypermobile;
o the Beighton score;
o the presence of other musculoskeletal involvements (Associated Findings).
These various types of joint hypermobility are more fully explained on the Ehlers Danlos Website.
If you think you have Ehlers Danlos Syndrome, you can use this checklist. To make an official diagnosis, you should see a provider who uses this checklist.
We observe the following technique of assessing the Beighton Score as created and recommended by the Ehlers Danlos Society in 2017:
Treatment is more important than labels
Individuals with HSD or hEDS are at risk for osteoarthritis at a younger age than the general population and are at risk for chronic pain. This is due to the constant overextension of the joints can cause not only dislocations and injuries (macro-trauma), but can cause hidden injury (micro-trauma).
Activities which may cause repeated joint hyperextension, sudden stops/starts and joint pain may need to be avoided (such as gymnastics, figure skating, contact sports). Excellent alternative physical activities include swimming, walking, or bicycling. Most importantly, since all people are different, each patient should learn which activities cause pain or injury and avoid those activities, but at the same time finding appropriate exercises to maintain a healthy weight and cardiac lifestyle.
Another feature of hypermobility syndromes is that the patient often has a decreased proprioception. This means that they are not able to tell where their bodies are in space and therefore cannot tell how far they are overextending. This constant hyperextension can cause microtrauma in the joints which is what eventually leads to the pain cycle.
Shoe orthotics and other supports can be helpful for flat feet. Over-the-counter types are adequate and less costly than custom made orthotics. Especially if the patient is a child, these must be replaced as the child grows. If the hypermobility extends to the ankle, we recommend that a well made high top tennis shoe and appropriate shoe inserts such as SuperFeet or PowerSteps/PowerKids or Inbalance Orthotics which will increase patient comfort and compliance. Wearing these in regular gym shoes may suffice.
Controlling Pain
If there is pain, nonsteroidal anti-inflammatory medications may be used as needed (pediatric dosing per package label). In cases of severe pain, the patient can be referred to a pain management team or physician.
Keep in mind that the best approach is to protect the joints. This can be done through a comprehensive team approach. Using good judgement and common sense, there are ways to help an individual or their child understand the best activities to engage in and what to avoid.
Team Approach
A comprehensive team approach to joint instability and joint pain includes physical therapy, occupational therapy, orthotists, pain management team and licensed providers such as physicians, physiatrists or nurse practitioners. This approach should be tried prior to surgical repair. Teams such as this can be found at rehab centers, major medical centers, and may be found locally. I can help you build this team.
This syndrome is often associated with chronic pain poorly controlled by medication or traditional physical therapy. Traditional physical therapy focuses on the acute injury model meaning that they focus on one joint at a time. The Physical Therapy approach in hypermobility syndromes should focus on a chronic pain model or all of the joints, body alignment and protecting the joints. Other elements are core strengthening, balance, and stability training. Occupational Therapy in conjunction with Physical therapy is helpful and may help the patient to understand how to move the joints in an appropriate manner.
Mind-body therapy comprises various complementary or alternative medicine techniques such as pilates, feldenkrais, yoga, meditation, massage therapy, guided imagery, stress management, and group psychotherapy.
Looking forward, my treatment plan for Hypermobility Syndromes focuses on a lifestyle modification approach to treatment. Lifestyle modifications that will be helpful for a person with hypermobility arthralgia (pain) include Nutrition, Exercise, Stress reduction, Sleep hygiene, and building/repairing Social relationships. We will discuss this more with you at your visits.
Surgical Care and Precautions:
Our recommendations for surgical management is that extra care is taken for wound closure and wound healing. Individuals with hEDS are at higher risk for poor wound healing and atrophic scarring. Closure should be with a layering technique, similar to what is used in plastic surgery settings. Additional supportive measures such as steristrips and immobilization of joints are helpful to prevent hyperextensibility of the scar. Wounds should be monitored vigilantly for proper wound healing, utilizing a wound management team if necessary.
There have been reports that people with EDS require more than the normal amount of anesthesia both general and local. Please take this into consideration. We will provide you with a handout for anesthesia care in the setting of hypermobility.
Media:
Learning About Ehlers-Danlos Syndrome
Chopra, P., Tinkle, B., Hamonet, C., Brock, I., Gompel, A., Bulbena, A., & Francomano, C. (2017). Pain management in the Ehlers-Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 212-219. doi:10.1002/ajmg.c.31554
Engelbert, R. H., Juul-Kristensen, B., Pacey, V., Wandele, I. D., Smeenk, S., Woinarosky, N., . . . Simmonds, J. V. (2017). The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 158-167. doi:10.1002/ajmg.c.31545
Ericson, W. B., & Wolman, R. (2017). Orthopaedic management of the Ehlers-Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 188-194. Doi:10.1002/ajmg.c.31551
Please Visit the Ehlers-Danlos Website (www.ehlers-danlos.com) for copies of all full articles associated with Hypermobility Spectrum Disorders. (They have scientific articles as well as matching articles which are easier for families to understand.)
Research:
As we discussed, there is no known genetic marker for the cause for EDS.
There are always 10-25 clinical trials going on and these are all registered at the web site:
ClinicalTrials.gov
Type in a Search Engine: EDS, Ehlers Danlos Syndrome, or Hypermobility.
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The Center for Happy-NESSS 