Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care

Hypermobility spectrum disorders (HSDs) encompass an array of connective tissue disorders characterized by joint instability and chronic pain. Fatigue and other systemic symptoms that affect daily functioning may occur, as well. Accurate data on incidence and prevalence of HSDs is hampered by lack of awareness of these conditions and the wide heterogeneity of their clinical presentation. Identifying which type of HSD is present is important in guiding appropriate care. In particular, making the diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS) is important, as individuals with hEDS may be at risk for more significant multisystem involvement. Diagnostic criteria for hEDS include measures of joint hypermobility, skin and other connective tissue findings, and lack of evidence of a different type of Ehlers-Danlos syndrome. Beyond accurate diagnosis, HSDs pose many challenges for primary care providers, as ongoing patient education, patient empowerment, and coordination of a multidisciplinary treatment team are integral to proper care. This article describes the incidence and prevalence, pathophysiology, diagnosis, and management of HSDs, including clinical cases exemplifying how joint hypermobility might present within a primary care setting.