Ehlers-Danlos Syndrome in Orthopaedics: Etiology, Diagnosis, and Treatment Implications

Eric D. Shirley, Marlene DeMaio, Joann N Bodurtha

Research output: Contribution to journalArticle

Abstract

Ehlers-Danlos syndrome is a heterogeneous connective tissue condition characterized by varying degrees of skin hyperextensibility, joint hypermobility, and vascular fragility. Joint dislocations, musculoskeletal pain, atrophic scars, easy bleeding, vessel/viscera rupture, severe scoliosis, and obstetric complications may occur. These manifestations are secondary to abnormal collagen, with specific molecular defects in types I, III, and V collagen; they may also be related to tenascin-X, which has been identified in some patients. Ehlers-Danlos syndrome has been classified into 6 types, with variable degrees of joint instability, skin hyperextensibility, wound healing difficulty, and vascular fragility. Diagnosis begins with recognition of the signs and symptoms of global hypermobility and referring appropriate patients for genetic consultation. It is important to accurately identify patients with Ehlers-Danlos syndrome to initiate appropriate musculoskeletal treatment, optimize anesthetic and postoperative management, perform appropriate vascular screening, and help families address their concerns with other families and advocacy groups.

Original languageEnglish (US)
Pages (from-to)394-403
Number of pages10
JournalSports Health
Volume4
Issue number5
DOIs
Publication statusPublished - Sep 2012

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Keywords

  • Ehlers-Danlos
  • instability
  • ligament laxity

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Physical Therapy, Sports Therapy and Rehabilitation

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