Orthopaedic Manifestations in Hypermobile Ehlers-Danlos Syndrome

Hypermobile Ehlers-Danlos syndrome (hEDS) is a collagen disorder affecting multiple organ systems, including the musculoskeletal system. We sought to determine the type and severity of orthopaedic manifestations experienced by these patients. The purpose of this study was to identify the most common orthopaedic manifestations in patients with hEDS and to examine the patient-reported helpfulness of treatments. Of note, collagen disorders such as hEDS may affect the success rates of orthopaedic interventions. The success or failure of treatment is not currently fully understood for this patient population.

A total of 1,999 patients who were enrolled in an international EDS registry were contacted to complete a 260-question survey regarding their experience with nonoperative and operative treatments for musculoskeletal instability and/or pain. Participants reported their demographic characteristics, hEDS diagnosis characteristics, symptomatic joints, nonoperative and operative treatments, and satisfaction with each treatment.

Over a 30-day period, 1,075 responses were received. Participants were predominately female (95.3%) and had a median age of 40.0 years (interquartile range width, 17.0 years). The majority (60.8%) of respondents reported a mental health burden every day, with the remainder reporting a mental health burden weekly (24.4%), monthly (11.0%), or never (3.80%). Compared with those who underwent standard physical therapy (n = 378), individuals who underwent physical therapy tailored to EDS (n = 602) more frequently reported improved posture (78.6% versus 43.1%; p < 0.001), greater helpfulness (p < 0.001), and a longer duration of attending therapy (p < 0.001). A total of 1,120 primary and 261 revision operations for joint or spine instability and/or pain were reported. The reported complication rates were 35.7% and 42.9% for joint and spine surgeries, respectively. Physical therapy was the only nonoperative treatment for which the median reported helpfulness sometimes equaled or exceeded that of a joint or spine surgery.

This study offers insights into the demographics and management of hEDS. The high rate of surgical complications reported by patients indicates the need for a better understanding of surgical indications and treatment options. These findings should guide physicians in managing hEDS and highlight the importance of incorporating this knowledge into clinical practice to improve the management of orthopaedic manifestations in patients with hEDS.

Prognostic Level V . See Instructions for Authors for a complete description of levels of evidence.