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

Maneuvers used to calculate the Beighton Score. The Beighton Score is calculated by adding the points obtained through each maneuvers, yielding a total maximum score of 9. A Beighton Score of 4 or higher is a major criterion for the Brighton Criteria

Maneuvers used to calculate the Beighton Score. The Beighton Score is calculated by adding the points obtained through each maneuvers, yielding a total maximum score of 9. A Beighton Score of 4 or higher is a major criterion for the Brighton Criteria

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.

Joint hypermobility syndrome, also termed benign hypermobility syndrome, is a connective tissue disorder characterized by chronic musculoskeletal pain due to joint hyperextensibility. Occasionally considered a milder variant of Ehlers-Danlos syndrome, Hypermobility Type, it is seen in up to 3% of the general population, a prevalence rivaling fibromyalgia, gout, and rheumatoid arthritis. Despite this, it is likely underdiagnosed by physicians due to its highly variable clinical presentation, absence of a confirmatory test, and controversies regarding its etiology and pathogenesis.

The diagnosis of joint hypermobility syndrome is largely clinical and can be established in the primary care setting. Because patients have a high rate of concomitant fatigue, headaches, orthostatic hypotension, anxiety, and abdominal and genitourinary complaints, identifying these patients and providing a more appropriate, unifying diagnosis is important. Additionally, identification of joint hypermobility as a cause of chronic pain and fatigue may help guide providers toward more appropriate management strategies, including physical therapy and nonopioid pain relievers.

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 hyperextensibility in multiple joints with or without other, accompanying chronic musculoskeletal complaints, is even more prevalent. Ten to twenty percent of individuals exhibit joint hypermobility, particularly children, adolescents, females, Asians, and West Africans.4 Indeed, a study among female monozygotic and dizygotic twins suggested that generalized joint hypermobility may be found in up to 20% of females.5 Although large-scale epidemiological studies are lacking, the rates of generalized joint hypermobility in competitive athletes may be even higher, given the inherent advantages of increased flexibility in sports such as gymnastics, swimming, and track and field.6

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-Bharat Kumar, MD, Petar Lenert, MD, PhD

This article originally appeared in the June 2017 issue of The American Journal of Medicine.

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