Review
Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain

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Abstract

Joint hypermobility syndrome, also known as benign hypermobility syndrome, is a connective tissue disease characterized by joint instability, chronic pain, and minor skin changes. It shares many clinical features of Ehlers-Danlos syndrome, Hypermobility Type; enough so that many authorities consider them as one disease process. Approximately 3% of the general population is believed to have joint hypermobility syndrome, but despite this high prevalence, due to lack of awareness, heterogeneity of clinical presentation, and reliance on physical examination for diagnosis, it is largely overlooked by primary care physicians as well as by specialists. This leads to delayed or missed opportunities for diagnosis, and inappropriate interventions that frustrate both providers and patients. We review the literature regarding the pathophysiology, diagnosis, treatment options, and prognosis of joint hypermobility syndrome, and advocate for primary care physicians to consider it in the differential diagnosis of patients with chronic pain.

Section snippets

Epidemiology

The prevalence of joint hypermobility syndrome is estimated to be about 3%, based on a 2013 survey of 12,853 participants in the UK.1 However, joint hypermobility syndrome is likely underdiagnosed and its prevalence is expected to be much higher.2 Epidemiological studies suggest that patients of all races and age groups are affected, although it is more prevalent in children and adolescents, who tend to have greater mobility of joints.3

Generalized joint hypermobility, that is, the finding of

Pathophysiology

Because of this variable clinical presentation and lack of specific biomarkers, researchers have been unable to identify a single pathophysiologic mechanism by which patients develop joint hypermobility syndrome. The fact that only a small proportion of patients with generalized joint hypermobility, that is, hypermobility found on physical examination, go on to develop varying levels of musculoskeletal pain and fatigue suggests that there are a host of genetic and environmental factors that

Clinical Evaluation

The role of the clinical examination in the diagnosis of joint hypermobility syndrome is critical and cannot be overstated. The history and physical examination serve 3 major goals: 1) to screen for generalized joint hypermobility; 2) to determine the extent of disease burden; and 3) to help exclude other connective tissue diseases characterized by generalized joint hypermobility.

Generalized joint hypermobility is a relatively common phenomenon, and not all patients who have generalized joint

Prognosis

Establishment of the diagnosis of joint hypermobility syndrome is important because, unlike many other causes of chronic musculoskeletal pain, joint hypermobility syndrome is a nonprogressive and noninflammatory condition. Because joint laxity decreases with advancing age, some symptoms may attenuate later on in life.

However, patients should be aware that there are sequelae to joint hypermobility syndrome. The increased joint laxity may predispose patients to premature osteoarthritis, but this

Management

Lifestyle modification is considered the most important intervention, although rigorous studies evaluating the efficacy of any particular intervention is lacking. Patients should be advised that excessive joint movement may aggravate symptoms and lead to joint, meniscal, and cartilage injury. Regular exercise is important, but overtraining, poor pacing, and excessive focus on joint flexibility may also lead to injury. Low-cost interventions, like neuromuscular taping and bracing, may help to

Conclusion

Joint hypermobility syndrome is a relatively common cause of chronic pain in the general population. Because its diagnosis requires a high level of clinical suspicion and the performance of specific physical examination maneuvers, it is often overlooked by providers. This is unfortunate, because establishment of the diagnosis allows for more appropriate management and care. In addition to providing an explanation to patients about their disease process, patients with joint hypermobility

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      Citation Excerpt :

      In the present study, body awareness, physical fitness parameters, fatigue levels, and musculoskeletal system problems in individuals with and without joint hypermobility were assessed, and we found that grip strength was low, and pain, especially in the neck and back region, and musculoskeletal system disorders, in general, were higher in young adults with HSD. According to the literature, pain, fatigue, and musculoskeletal injuries due to instability are more common in individuals with joint hypermobility than in those without joint hypermobility (Castori et al., 2017; Kumar and Lenert, 2017). Eccles et al. (2012) reported that individuals with joint hypermobility had higher values in interoceptive sensory evaluations, which enable them to perceive signals coming from the body compared to those without hypermobility.

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    Funding: None.

    Conflict of Interest: The authors have no conflicts of interest to declare.

    Authorship: Both authors had access to the data and had a role in writing the manuscript.

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