Overly flexible connective tissue causes problems in joints and throughout the body − and is often missed by doctors

Two people with hypermobility syndrome disorder may experience very different symptoms. One person may have severe joint instability, fatigue and autonomic dysfunction. Another person may have mild joint instability but severe headaches and gastrointestinal issues. The Ehlers-Danlos Society, CC BY-ND^[10][11]

Symptoms can include widespread pain and frequent injury, irritable bowel syndrome, indigestion, hernias, frequent bruising and poor skin healing, trouble breathing, migraines and headaches, dizziness, fatigue, insomnia, anxiety and trouble concentrating.

Some of these problems are purely mechanical, such as fragile skin^[12] that tears easily and heals poorly, stretchy gut tissue^[13] that doesn’t move along digesting food as quickly as it should and excessive mobility between the skull and top vertebra that can compress the brain stem and lead to central nervous system problems^[14].

Additionally, people with hypermobility conditions have problems that scientists don’t yet understand. For example, the autonomic nervous system – which regulates functions like digestion, breathing and heart rate – is out of balance^[15]. Similarly, research has not fully explained the connection between hypermobility and mast cells, which are part of the immune system protecting against viruses and other invaders. One hypothesis is that overactive mast cells^[16] may release chemicals affecting surrounding connective tissue.

Often, multiple factors contribute to a given symptom. For example, the problem of insomnia^[17] is due, in part, to pain that keeps people awake. But lax tissue in the throat can cause sleep apnea, as well. What’s more, an overactive nervous system and anxiety about unexplained health issues can also lead to poor sleep.

Ehlers-Danlos syndrome is the most common heritable connective tissue disorder. It was first described by Hippocrates in 400 BCE^[18] but was formally defined by doctors Edvard Ehlers and Henri-Alexandre Danlos in the early 1900s. About 90% of all Ehlers-Danlos^[19] patients have the hypermobile type.

Doctors have traditionally considered hypermobile Ehlers-Danlos syndrome a rare condition, which is how people with hypermobility came to be called zebras^[20]. Medical students are taught, “When you hear hoofbeats, look for horses, not zebras,” as a reminder that rare conditions are seldom seen, and virtually all hoofbeats indicate horses. Hypermobility experts now believe Ehlers-Danlos syndrome is not as rare as previously thought – and many people are misdiagnosed or undiagnosed^[21].

Difficulties with diagnosis

Lack of a diagnosis can be frightening and discouraging for people with hypermobility spectrum disorder. Patients are often told nothing is wrong with them and they are just complaining too much or have low pain tolerance. Many may be considered difficult patients, because they see multiple health care providers trying to understand their symptoms – and often present with complaints that vary from day to day.

Some providers believe their patients but simply do not know how to manage their problems. Other patients report being subjected to medical gaslighting^[22], being told repeatedly, “It’s all in your head.” Women are more likely^[23] to be told that their problems are psychiatric rather than physiologic. Hypermobile patients frequently feel abandoned by the health care system^[24].

Even once diagnosed, hypermobile patients often struggle to find knowledgeable providers who can help rather than make problems worse. A 2022 study^[25] showed only 9% of physicians were familiar with the diagnostic criteria for hypermobile Ehlers-Danlos syndrome – and only 4% reported feeling comfortable treating it.

Failure to diagnose underlying hypermobility can lead to inappropriate treatments^[26], such as unhelpful medications, surgeries that might be less effective for hypermobile patients or even inappropriate psychiatric diagnoses. A delayed diagnosis leads to worse function, increased pain and disability^[27].

How physical therapy can help hypermobility

There is no cure for the actual connective tissue abnormality. So, treatment strives to minimize pain and injury while improving joint stability, overall health and daily function.

A hyperextended elbow. Veronica Foale/Flickr, CC BY-NC-SA^[28][29]

Joints normally provide sensory information about where the body is in space, but this system does not function properly^[30] in hypermobile people, who often do not realize joints are moving in ways they should not. Although research is limited, existing research suggests that physical therapy can improve^[31] sensory awareness and motor control – and help patients identify, activate and strengthen stabilizing muscles.

Since many hypermobile patients have sensitive nervous systems, systemic calming is an important part of pain relief. Patient education, movement, sleep, mind-body training and nutrition can also help manage pain^[32] with minimal medication.

Occupational therapy^[33] can also benefit hypermobile patients through environmental modifications, activity pacing and assistive and mobility devices like splints, braces and wheelchairs.

Other management approaches include nutrition^[34], psychosocial support and medical management^[35] through medications and surgery. Orthopedic surgeries appear to be less successful in hypermobile people^[36] compared with nonhypermobile people, so nonsurgical options should be explored before considering surgery.

Symptomatic generalized joint hypermobility is a complicated condition that is not yet fully understood. Once it has been identified, though, many strategies can help decrease pain and injuries – and improve function and quality of life.

Authors: Leslie Russek, Professor Emeritus of Physical Therapy, Clarkson University

Read more https://theconversation.com/overly-flexible-connective-tissue-causes-problems-in-joints-and-throughout-the-body-and-is-often-missed-by-doctors-209194

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