Challenges of Fracture Management for Adults With Osteogenesis Imperfecta

Abstract

Osteogenesis imperfecta is caused by qualitative or quantitative defects in type I collagen. Although often considered a disease with primarily pediatric manifestations, more than 25% of lifetime fractures are reported to occur in adulthood. General care of adults with osteogenesis imperfecta involves measures to preserve bone density, regular monitoring of hearing and dentition, and maintenance of muscle strength through physical therapy. Surgical stabilization of fractures in these patients can be challenging because of low bone mineral density, preexisting skeletal deformities, or obstruction by instrumentation from previous surgeries. Additionally, unique perioperative considerations exist when operatively managing fractures in patients with osteogenesis imperfecta. To date, there is little high-quality literature to help guide the optimal treatment of fractures in adult patients with osteogenesis imperfecta. [Orthopedics. 2017; 40(1):e17-e22.].

Management of Osteogenesis Imperfecta

“…The prevalence of fractures in OI drops in adulthood but they continue to occur such that 25% of lifetime fractures are reported to occur in adulthood. Fractures in adulthood can be even more challenging due to the presence of deformity, previous surgery and/or metalwork and previous or ongoing bisphosphonate treatment (59).…”

Pauwels Osteotomy for Femoral Neck Nonunion in Two Adult Siblings with Osteogenesis Imperfecta

“…OI is a rare inherited connective tissue disease causing bone fragility most often by a type-I collagen mutation. More recently, other mutations in genes that are involved in processing, folding and stability of collagen, as well as in differentiation or function of osteoblasts have been described 1 2) . Patients with OI suffer many fractures especially in childhood 2) .…”

“…More recently, other mutations in genes that are involved in processing, folding and stability of collagen, as well as in differentiation or function of osteoblasts have been described 1 2) . Patients with OI suffer many fractures especially in childhood 2) . The severity of disease is reflected in the Sillence classification, designated in at least 21 classified subtypes of OI 1) .…”

“…Osteogenesis imperfecta (OI), also named “brittle bone disease” is a hereditary disorder that affects the quality and quantity of collagen I 1 2) . The manifestations of this disease in the musculoskeletal system vary 1 2) .…”

“…Osteogenesis imperfecta (OI), also named “brittle bone disease” is a hereditary disorder that affects the quality and quantity of collagen I 1 2) . The manifestations of this disease in the musculoskeletal system vary 1 2) . The OI hip often has a varus deformity as well as “pincer” type impingement because of the acetabular protrusio 3 4 5) .…”