Medical – What is Hypermobility?

What is hypermobility?

“Hypermobility is the term used to describe the ability to move joints beyond the normal range of movement. Joint hypermobility is common in the general population. It may be present in just a few joints or it may be widespread. It is most common in childhood and adolescence, in females, and Asian and Afro-Caribbean races. It tends to lessen with age. In many people, joint hypermobility is of no medical consequence and commonly does not give rise to symptoms. Hypermobility can even be considered an advantage, for example, athletes, gymnasts, dancers, and musicians might specifically be selected because of their extra range of movement. 

For a small percentage of the population, instead of being advantageous, hypermobility may be associated with joint and ligament injuries, pain, fatigue, and other symptoms. Hypermobility can also be a sign of a more serious underlying condition, which are often passed down through the generations.”(1/ Hakim A.J.).

“Experts estimate that up to 10% of the general population may have some degree of hypermobility, with women affected about three times more often than men. Most hypermobile people do not develop any problems from their loose joints, but some suffer chronic pain and other symptoms.” (2/ Pocinki A.)The exact cause(s) of joint hypermobility is unknown; however, various genetic mutations in one or more of the components that help build our connective tissues may result in loose joints. Research suggests that both genetic and epigenetic factors play a role in the variability of signs and symptoms associated with joint hypermobility. These indicators fall somewhere along a vast spectrum in presentation and include the severity of issues experienced by some people with joint hypermobility

For many people, hypermobility can be asymptomatic and may even be considered advantageous.  However, for those individuals in which hypermobility is accompanied by certain signs and symptoms (see list below for details), joint hypermobility can be an indication of a medical condition, such as hypermobile Ehlers-Danlos syndrome (hEDS). Hypermobile EDS is just one of several types of Ehlers-Danlos syndromes (EDS), a group of conditions caused by various problems with connective tissue. While researchers are still investigating the complexities of EDS, it is certain that most forms of EDS can cause a broad spectrum of multi-systemic dysfunction. Additionally, some EDS researchers speculate that hEDS may be the most prevalent connective tissue disorder in the world.

In the past, it is likely that many people who were diagnosed using the now-obsolete terminology, such as benign joint hypermobility syndrome, joint hypermobility syndrome, hypermobility syndrome, or just loose joints, later received a diagnosis of hEDS.  In other people, hypermobility can be a sign of another syndrome, such as Marfan syndrome or osteogenesis imperfecta, or of an autoimmune disorder affecting the connective tissue, such as lupus or rheumatoid arthritis (RA). Fibromyalgia is another condition that can be associated with hypermobility.

The first sign or symptom of hEDS is usually joint hypermobility.  Many people do not experience issues with their loose joints until puberty or later in life, if at all. On the other hand, some individuals with hEDS have multi-systemic problems from birth. When an individual with symptomatic joint hypermobility does not meet the criteria for hEDS, this person may be classified as having a hypermobility spectrum disorder (HSD).

In addition to hypermobile joints, people with HSD orhEDS can have a broad range of symptoms affecting the knees, shoulders, neck, ankles, fingers, wrists, the pelvis, the jaw, and more joints. It is possible that every system in the body may be affected because components of connective tissue can be found everywhere in our bodies, not only supporting our joints. Since no two people with hypermobility present the same way, confusion and misdiagnosis have only increased – and hEDS is especially subjective.The recently revised diagnostic criteria for all Ehlers-Danlos syndromes and Hypermobility Spectrum Disorders provides direction for the proper diagnosis of all types of EDS and HSD along with standard of care guidelines for patients. Awareness, education, and early intervention are critical. Over-medicalization or lack of proactive approaches to living well with joint hypermobility can cause damage to the connective tissues, progress multi-systemic dysfunction, and cause additional or life-long pain and suffering.

A perfect analogy is as follows:

 ‘If one builds a house with inadequate materials, perhaps half [of] the necessary wood or aluminum nails, one knows there will be problems. Some problems can be anticipated, but because those materials were used everywhere and aren’t necessarily visible, one may be surprised. Being built out of a protein that doesn’t behave the way it should results in widespread difficulties in a wide range of severities, even in places one wouldn’t think are connected until one realizes that collagen is used there, too.’

There is still so much more to discover and understand about hypermobility-related disorders, hypermobility spectrum disorders, and Ehlers-Danlos syndromes, including hEDS. However, what is recognized by those within the broader hypermobility community, but has yet to be fully acknowledged and accepted by the entire medical field, is that hEDS is a multi-systemic condition that is much more than “just the joints.”

Symptoms / Comorbidities of Hypermobility Spectrum Disorders / Hypermobile Ehlers-Danlos syndrome often include, but are not limited to:

–    Joint hypermobility (not to be confused with flexibility, as people can be hypermobile without being flexible and vice versa—hypermobile joints are loose or unstable and slip or dislocate easily)

–    Complete dislocations and partial dislocations (known as subluxations)

–    Prone to bruising easily and some may have tissue fragility

–    Vascular complications, such as pelvic congestion syndrome

–    Bladder problems (such as interstitial cystitis)

–    Poor wound healing

–    Abnormal scarring

–    Chronic fatigue

–    Chronic pain

–    Cardiac abnormalities

–    Foot deformities

–    Temporomandibular joint (TMJ) dysfunction

–    Low muscle tone (hypotonia)

–    Hernias

–    Early osteoarthritis and degenerative discs

–    Various gastrointestinal problems and allergies/hypersensitivities

–    Chronic headaches/migraines

–    Eye problems

–    Dysautonomia (i.e. POTS)

–    Dental issues

–    Chronic pelvic pain in women and various gynecological issues

–    Congenital defects of the spine (including the head, neck, and the entire spinal column)

–    Learning disabilities (such as dyslexia)

–    Cognitive deficits and impaired concentration  (such as ADD/ADHD)

–    Sensory processing issues

–    Autism

–    Neuropathy

–    Circulatory issues

–    and much more.

References:

1/ Hakim A – www.hypermobility.org

2/ Pocinki A.) — http://www.dynakids.org/Documents/hypermobility.pdf)

3/ Fig. 1 Hypermobility Syndromes Association (HMSA) – http://hypermobility.org/professionals-section/hypermobility-disorders-an-update-for-clinicians/

4/ Fig. 2 Hypermobility Syndromes Association (HMSA) – http://hypermobility.org/professionals-section/hypermobility-disorders-an-update-for-clinicians/

5/ Fig. 3 Hypermoblity Syndromes Association (HMSA) -http://hypermobility.org/wp-content/uploads/2017/03/HDCT-Proteins-Genes.jpg

6/ Fig. 4 The Ehlers-Danlos Society – https://ehlers-danlos.com/what-is-hsd/-

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