Systemic manifestations of Ehlers-Danlos syndrome

Abstract

Ehlers-Danlos syndrome (EDS) is a multifaceted debilitating disease. Affected patients are at risk for complications such as joint hypermobility and cardiac disease, but the prevalence, course, and management of these conditions are not well understood. The objective of this retrospective cohort study was to investigate the demographic characteristics and systemic manifestations in EDS. We performed a retrospective analysis of 98 EDS patients seen in a physical medicine and rehabilitation clinic between January 2015 and April 2019. Charts were reviewed for demographic information, subtype of EDS, characteristics of musculoskeletal pain, and presence of certain systemic comorbid diagnoses: autonomic dysfunction, headaches/migraines, gastrointestinal conditions, cardiovascular anomalies, mast cell activation syndrome, and temporomandibular joint dysfunction. Of 98 patients, 75 were diagnosed with EDS-hypermobile type (EDS-HT); 94 patients were women, and the mean age was 36.7 years. On average, each patient reported involvement of 5.4 joints, with the shoulder, knee, and lumbar spine as the most common. The average number of comorbid systemic conditions was 2.8, of which autonomic dysfunction was the most common. This study aims to provide a better understanding of this disease to promote earlier and more accurate diagnoses to guide treatment and prevent complications.

Keywords:

• Arthralgia
• Ehlers-Danlos syndrome
• joint instability