By Dr. Conway McLean, DABFAS, FAPWHc

Do you remember the kid in school who entertained everyone with his stupid tricks? He was the one who could place both elbows well behind his head or fold himself like a pretzel. Entertaining fellow, but possibly the victim of a serious, potentially debilitating disease. Although the diagnosis is infrequently made, the research shows this is simply a failure to accurately recognize the condition, formerly known as Ehlers-Danlos Syndrome.

Many individuals make the claim of being “double jointed” but what exactly does that mean? Typically, this is an individual who has joints that are able to move too far. In many, this is insignificant and healthy. But some of them have abnormal soft tissue, making ligaments unable to limit joint motion properly.

As is often the case, science often changes its mind and changes disease names, a logical move as we learn more about a disease. This constellation of inherited conditions, all closely related, is now termed hypermobility spectrum disorders (HSDs). The term hypermobility refers to an increased active or passive movement of a joint beyond its normal range. These are an array of connective tissue disorders, with the notable characteristics being joint instability and chronic pain.

Some of the controversy surrounding this group of diseases is its incidence, the frequency with which the disease occurs in the general population. Because we’ve only begun to recognize the variability in presentation, more people may be affected than we once thought. With the new definitions in place, some estimates claim it’s as high as 1 in 500, others stating about 3% of the population are afflicted. Although one can have joint hypermobility without having a hypermobility spectrum disorder (HSD), it seems likely some of those with loose joints have milder forms of HSD. Thus, a failure to recognize may be responsible for the rarity of the diagnosis.

These are inherited problems affecting primarily your skin, joints, and blood vessel walls. Connective tissue is a complex mixture of proteins that provide strength and elasticity to the underlying structures. Those ligaments referred to earlier are composed of connective tissue, explaining why these individuals are able to move joints so far from the norm. These individuals have normal anatomy, but the composition of the tissues composing ligaments is abnormal and dysfunctional.

The symptoms experienced by those afflicted vary greatly, but there are some common themes. The pain experienced by these individuals is often diffuse. Many describe feeling tired all the time. Often, they describe localized pain in their shoulders, back, feet, or ankles (or all the above). The history of pain will go back years, often to grade school. Due to their poor soft tissue quality, many relate a history of recurrent shoulder or kneecap dislocations. Most HSD patients describes themselves as “double jointed.” Fortunately for many, symptoms tend to lessen with age.

But the consequences of HSD go far beyond only musculoskeletal complaints. This group of diseases is frequently associated with chronic anxiety, headaches, gastroesophageal reflux disease (GERD), irritable bowel syndrome, and orthostatic hypotension (feeling lightheaded when standing quickly). Sleep disturbances are common. Without an explanation for their pain and symptoms, these individuals must live in uncertainty.

Because no blood test or imaging study can pinpoint HSD as the cause, many sufferers do so in silence, unable to find out why they have chronic pain, are unable to sleep, and are generally anxious. Many have been through the gamut of doctors, generalists and specialists, usually multiple disciplines consulted, neurology, rheumatology, physical therapy, and more. Numerous alternative medicine visits are made because of the frustration these people experience, unable to get a diagnosis that makes sense.

Identification of the types of HSD has been a work in progress but critical in guiding treatment. The old name of Ehlers-Danlos Syndrome has been modified to hypermobile Ehlers-Danlos Syndrome, abbreviated to hEDS. EDS is a subset of the larger category the Hypermobile Spectrum Disorders. One difference seems to be the greater risk for significant multisystem involvement in hEDS. Diagnosing it requires a variety of clinical findings such as joint laxity, skin findings (which has excessive elasticity and other changes), connective tissue changes, and more.

Agreement on the most effective therapeutic approaches is lacking but a multidisciplinary effort seems to be the most effective. Some methods found beneficial include physical therapy, biofeedback, and cognitive behavioral therapy (CBT). Naturally, various pharmaceuticals have been used including anti-inflammatory medications, antidepressants such as duloxetine and gabapentin, all with varying degrees of success.

A method gaining traction for this patient population consists of mechanical support. Biomechanically, those with HSD tend to have poor structural alignment when weight bearing, causing stress to many soft tissue structures, especially tendons and muscles. Bracing is most effective when the support assists in better joint function, as opposed to restricting normal motion. For years, it was felt this approach led to weakness of muscles, but newer options encourage more normal, but better aligned function. Numerous examples exist including in-shoe, custom arch supports and many new foot-ankle braces which aid in keeping the leg positioned over the foot.

Clinicians frequently see patients with hypermobility syndrome disorders but how many receive an accurate diagnosis? Owing to the relatively benign nature of the condition, HSDs have posed a diagnostic challenge for primary care providers. Accurately identifying this spectrum of diseases has been hampered by a lack of recognition of HSD and the variable manifestations of the disease.

The majority of these individuals can be managed in the primary care setting. Having this multidisciplinary treatment team available appears to result in an improved quality of life for the HSD patient. There is much we do not know about HSD, so the research will continue. But we need better recognition to more frequently make an accurate diagnosis. This can be achieved through improved education of patients, health care providers, as well as the general public, about the Hypermobility Spectrum Disorders.