Orthopaedic manifestations of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is the most prevalent heritable disorder of connecti ve tissue. Musculoskeletal problems include joint pain, swelling and instab ility, and spinal deformity. This study was undertaken to assess functional orthopaedic problems of patients with Ehlers-Danlos syndrome. Sixty patien ts with genetically verified Ehlers-Danlos syndrome (range, 8-60 years; mea n, 34 years) who attended a National Ehlers-Danlos Syndrome Foundation lear ning conference were evaluated by questionnaire, clinical examination, and when indicated, radiographs. A database of 250 items per patient was constr ucted and statistically assessed using analysis of variance. Because of rar ity of Types VII and VIII, these two patients were dropped from the analysi s. Fifty-eight patients had Ehlers-Danlos syndrome Types I, II, III, or IV and form the study cohort. Among these four types, there were no significan t differences in history of joint dislocation, swelling, or types of orthop aedic surgical procedures experienced. Thirty patients with Type III Ehlers -Danlos syndrome reported joint pain more frequently than did patients with Types I, II, or IV. Ambulation was impaired significantly in patients with Type III disorder as a whole, as was functional hand strength and upper ex tremity function. Back or neck pain was a common (67.2%) report among patie nts with all types of disease but did not correlate with the presence or ab sence of spinal deformity. Contrary to most previous reports, the patients in this study showed that Type III Ehlers-Danlos syndrome was the most debi litating form with respect to musculoskeletal function.