May is Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorder Awareness Month

Learning the basics starts with learning a few acronyms —

Generalized Joint Hypermobility (GJH)

Medically, GJH is defined by scoring above a certain threshold on a test called the Beighton Scale.  The Beighton Scale includes assessment of flexibility of the fingers, thumb/wrist, elbows, knees, and hips/back.  GJH often coincides with being considered very flexible or ‘double jointed’ (those with GJH don’t really have any extra joints, though!).  GJH can be related to a person’s genetics or it can be accumulated through experience or training (unintended stressors that lengthen tissues or training that increases flexibility like gymnastics or yoga).

Ehlers-Danlos Syndromes (EDS)

The Ehlers-Danlos Syndromes are a group of genetic disorders of the connective tissue.  As of 2017, there are 13 distinct types of Ehlers-Danlos Syndromes, each named for the most significant feature of the syndrome (vEDS for vascular EDS, etc).  Of those 13 syndromes, 11 are extremely rare (all except cEDS and hEDS) and 12 have molecular identifiers (can be confirmed with genetic testing).  The most common form, Hypermobile Ehlers-Danlos (hEDS), can not be confirmed with any medical test.  This form is currently diagnosed by meeting standardized criteria on a clinical exam while ruling out other testable disorders.  All forms of EDS include GJH as a characteristic.

Hypermobility Spectrum Disorders (HSD)

HSD can include GJH or even localized joint hypermobility with no symptoms on the milder end of the spectrum, while the severe end of the spectrum includes GJH with limiting symptoms in multiple body systems in addition to joint problems.  HSD is only diagnosed when a patient has symptoms related to joint hypermobility, but does not meet the criteria for other diagnosable disorders with similar symptoms (including the Ehlers-Danlos Syndromes).

Symptoms, Signs, & Associated Conditions of EDS/HSD

At first glance, symptoms of EDS/HSD can seem random and unrelated:

  • Joint pain
  • Fatigue, disruptive sleep
  • Brain fog, anxiety, depression
  • Dizziness
  • Difficulty standing
  • Digestive troubles
  • Sensitivities/atypical responses to medications and/or environmental triggers
  • Headaches/migraines

However, knowing that EDS/HSD are connective tissue disorders, the symptoms can all be connected by an understanding of the role of connective tissue in the body.  Connective tissue is found throughout the body.  In many areas it serves as the ‘wrapper’ of body structures (for example: internal organs, blood vessels, digestive tract, airway, muscles, nerves, brain and spinal cord).  In many other areas it connects body parts and holds them in place providing strength and elasticity (for example: skin, muscle, tendon, bone, organs).  In EDS/HSD the connective tissues are not standard-issue because the genes that make the connective tissue have mutations.  Depending on which genes are involved, the signs of altered connective tissue vary widely among the different EDS/HSD types and even among individuals with the same type of EDS/HSD.

Some of these signs include:

  • Stretchy and/or soft/velvety skin
  • Joint subluxations or dislocations during every day activities
  • Dental crowding with high/narrow palate
  • Prolonged time in orthodontia
  • Atypical scars; easy bruising; fragile skin
  • Striae (stretch marks) unrelated to weight gain/loss
  • Slower than expected healing of soft tissues after injury or surgery
  • Hernias and/or organ prolapse
  • GI dysmotility (food not moving through the digestive tract or into the blood stream as expected)
  • Dysautonomia (abnormal management of fight/flight vs. rest/digest/repair by the nervous system)
  • Mast cell activation disorder (abnormal immune system activity that is not allergy or autoimmune in nature)

The Basics of Care for EDS/HSD

At the present, there are no treatments or cures that can change the connect tissue of EDS/HSD to be more like standard-issue connective tissue.  However, there are treatments available for almost every symptom and associated condition related to EDS/HSD.  The most important factor is recognizing that individuals with EDS/HSD have special connective tissue that requires special care.

Lifestyle can have a much greater impact, positive or negative, on an individual with EDS/HSD.  Optimal fitness, exercise, activity, and nutrition are essential for management.  Unfortunately, determining ‘optimal’ is incredibly difficult to determine and usually requires guidance from skilled professionals experienced with EDS/HSD.  Medications can also be helpful for managing symptoms, signs and associated conditions.  Here again, it is important that these are prescribed by providers who understand EDS/HSD to avoid triggering additional problems.

  • Care can and should be basic, but for many, it is not!

One of the most challenging aspects of having EDS/HSD is finding a provider who can deliver appropriate care.  Here at Foothills Orthopedic and Sport Therapy, we understand EDS/HSD.  Not only do we do our best to provide optimal physical therapy in a supportive environment, we also work hard to connect our patients to necessary providers and resources.  Our goal for people with EDS/HSD is to live their best life in the body they have!

Links to more information:

* I especially recommend this EDS Society web site  and this site for patients, loved ones and friends to learn more about EDS

* This comprehensive article may be appropriate for your primary medical provider: Hypermobile Ehlers-Danlos Syndrome

* Sign up for this FREE virtual training at Project ECHO