Symptomatic joint hypermobility

1. Joint hypermobility can be assessed using the Beighton scoring system which has a cut-off point of 5 out of 9. However, those who meet this cut-off point may be asymptomatic.
2. Those with symptomatic joint hypermobility may not just have joint issues. The therapist has to assess the patient as a whole, as connective tissue disorders can affect multiple systems.
3. Therapists should adopt a gentle and collaborative approach with patients as they are more prone to injuries, and the intervention should ideally involve a multidisciplinary team.

BACKGROUND
Generalized joint hypermobility (GJH) is hypermobility associated with multiple joints. The prevalence of GJH is up to 57% (1). The Beighton scoring system is the most reproducible assessment tool for hypermobility, with good inter-rater reliability (2). The original cut-off threshold for Beighton is 5 out of 9 (3), but confounding variables such as age, gender, training, injury, hormone status and ethnicity can impact the score.

Studies have tried to investigate why many people are hypermobile but asymptomatic, with minimal substantiation. In theory, a hypermobile joint is more dependent on musculotendinous function for stability, and failure of which may cause soft tissue strain/ injury. Additionally, a hypermobile joint can alter the biomechanical function of the body, causing compensatory changes at other body areas and potential soft tissue irritation. Perhaps, those who are asymptomatic have adopted efficient biomechanical adaptation strategies over their lifetime. On the other hand, those who are symptomatic experience a range of symptoms of

Consistent physical activity is key to alleviate and/or prevent worsening of musculoskeletal symptoms varying degrees including chronic pain, fatigue, disturbed joint proprioception, and soft tissue/ joint trauma.

CAUSES OF HYPERMOBILITY AND DIAGNOSIS
The causes of joint hypermobility are multifactorial. Hypermobility can be influenced by a combination of environmental and genetic factors. It can be acquired and/or congenital. Joint hypermobility is associated with many heritable connective tissue disorders such as Ehlers-Danlos Syndrome (EDS), osteogenesis imperfecta, and Marfan syndrome. The most common type of EDS is the hypermobile type EDS (hEDS), but out of the 13 types of EDS, hEDS is the only one with no identifiable genetic marker. Hence, diagnosis of hEDS is reliant on clinical diagnosis using the 2017 International Consortium Diagnostic Criteria (4), where the patient needs to meet criteria 1, 2 and 3 simultaneously to qualify.

The prevalence of generalized joint hypermobility is up to 57%.

The hEDS 2017 diagnostic criteria is thorough albeit flawed. Many patients with significant hypermobility do not meet the diagnostic threshold but have significant comorbidities associated with hypermobility. According to Dr Tinkle, “these patients should be classified as Hypermobility Spectrum Disorder (HSD)
to validate their clinical status and help them receive the necessary services”. Importantly, an experienced Geneticist with specialty in hypermobility is required for a confirmative diagnosis. Further refinements to the 2017 hEDS criteria are likely due to ongoing research in this area.

MULTI-SYSTEMIC COMORBIDITIES AND MANAGEMENT
Many patients with GJH, and especially those with hEDS and HSD have other comorbidities or diagnoses. These include joint instability, chronic pain, fatigue, postural dizziness and gastrointestinal issues.

There is a lack of high-quality evidence in the management of joint hypermobility, but Dr Tinkle recommends that an asymptomatic hypermobile person will benefit from regular physical activity, “proper ergonomics” and “awareness of extreme contorting”. For those who are symptomatic, Dr Tinkle recommends therapy to reduce spasm (i.e. relaxation, massage, hydrotherapy, stretching), and low impact/resistance exercises to increase muscle tone, joint stability and overall endurance. He adds that the hypermobile joint will require more neuromuscular education to help activate stabilizing muscles and address other dominant, tensed muscle groups. Joint bracing should be considered to help manage joint instability in the event of an injury, and to enable the individual to perform exercise. Prolonged bracing is not ideal, and bracing should be paired with appropriate, ongoing exercises.

Fatigue is another common complaint amongst those with hypermobility. Fatigue can be exacerbated by pain, sleep disturbance, low mood, and postural intolerance. Postural intolerance is common in those with GJH and it presents as postural dizziness with cyclical adrenaline surges to compensate for postural changes. Those with hypermobility are more susceptible to postural intolerance due to increased arterial elasticity and venous pooling. Further laboratory testing such as tilt table testing may be required by a Cardiologist. The management of postural intolerance typically includes hydration, increased sodium intake, compression garments, and avoidance of triggers such as heat. Regular exercise may improve cardiac conditioning to reduce postural intolerance. Some patients may also require medications.

Chronic constipation is one of the earliest symptoms in those with symptomatic GJH due to increased intestinal laxity. Other systemic presentations such as dysphagia, reflux, abdominal pain/bloating and diarrhoea are common. Treatment typically involves nutritional modifications in combination with hydration, exercise, good toileting habits and pelvic floor therapy. In some instances, patients may need to see a gastroenterologist and/or dietician.

CLINICAL IMPLICATIONS
A vigilant therapist should be alert to the possibility of connective tissue disorder in patients who present with chronic pain, joint instability and/or other manifestations discussed in this review. A confirmative diagnosis of hypermobility may not be available in all geographical regions due to difficulty accessing medical specialists in EDS/HSD. However, not everyone requires an EDS or HSD diagnosis as many can manage their symptoms with individually tailored exercises.

Consistency with physical activity is key to alleviate and/or prevent worsening of musculoskeletal symptoms. However, some patients value a confirmative diagnosis as it helps to validate their condition and access health and support services. Further referral to an experienced Geneticist is necessary for patients who are suspected to have the more life-threatening forms of EDS such as vascular or classical type EDS.

In general, the therapist should adopt an open-minded approach to treating those with joint hypermobility, as every patient can present quite differently. The approach should be gentle and collaborative with the patient as they are more prone to injuries, and the intervention should ideally involve a supportive multidisciplinary team.