Content area
Full Text
Osteogenesis imperfecta is an inherited disorder of the connective tissue stemming from gross abnormalities in collagen formation and structure. Affected patients fall into 4 classifications each displaying the similar properties of easily fractured bones, hypermobile joints, blue or gray sclera, skeletal deformities, and fragile skin. More severe forms of the disease may manifest platelet dysfunction, cardiac anomalies, hypermetabolic syndromes, respiratory compromise, and/or basilar invagination. Treatment of osteogenesis imperfecta is mainly supportive, consisting of prompt surgical treatment of fractures to prevent deformity and maintaining mobility to lessen the chance of pulmonary or cardiovascular complications. These treatment modalities make anesthesia of paramount importance.
Osteogenesis imperfecta is an inherited disorder of the connective tissue stemming from gross abnormalities in collagen formation and structure. Affected patients fall into 4 classifications each displaying the similar properties of easily fractured bones, hypermobile joints, blue or gray sclera, skeletal deformities, and fragile skin. More severe forms of the disease may manifest platelet dysfunction, cardiac anomalies, hypermetabolic syndromes, respiratory compromise, and/or basilar invagination. Treatment of osteogenesis imperfecta is mainly supportive, consisting of prompt surgical treatment of fractures to prevent deformity and maintaining mobility to lessen the chance of pulmonary or cardiovascular complications. These treatment modalities make anesthesia of paramount importance.
Keywords:Anesthesia, collagen, osteogenesis imperfecta.
Osteogenesis imperfecta is an inherited disorder of connective tissue usually transmitted as an autosomal dominant trait. The pathophysiology of the disease revolves around defects in collagen formation, leading to common characteristics that are present in each of the 4 currently identified types. Treatment modalities for osteogenesis imperfecta primarily serve to limit progression of cardiopulmonary complications and any decreases in mobility as well as to promptly perform surgical intervention of fractures. Recognition of potential complications of the disorder is vitally important for the anesthesia provider as well as for all staff involved in the continuum of care of patients with osteogenesis imperfecta.
This review of the literature will focus on positioning, airway management, spinal deformities, pulmonary mechanics, cardiac anomalies, bleeding diathesis, hyperthermia, and the rare occurrence of basilar invagination. Proper preoperative preparation, strict intraoperative monitoring, and supportive postoperative care will dramatically lessen the chance of adverse outcomes in these patients.
History and Review of Literature
The first recorded case of osteogenesis imperfecta was in a partially mummified body...