Incidence and treatment of femur fractures in adults with osteogenesis imperfecta: an analysis of an expert clinic of 216 patients

Abstract

Purpose Osteogenesis imperfecta (OI) is characterized by increased bone fragility and susceptibility for fractures. A few studies described and compared treatment modalities for femur fractures in children with OI. However, no cohort studies on adults with OI have been published. This study on adult OI patients aims to give insight into the incidence of femur fractures and non-unions and its best treatment options to avert non-union. Methods In this retrospective, descriptive study of the OI expert clinic in The Netherlands, all medical charts of patients 16 years or older were analyzed for femur fracture incidence, non-union rate and treatment modality. Results Of 216 OI patients, 34 patients suffered a femur fracture with 12 patients having more than 1 femur fracture. For all types of femur fractures, the incidence was 651 fractures per 100,000 person-years annually. In 49 total fractures, 10 fractures resulted in a non-union, mostly shaft fractures of type 4 OI patients. Surgically treated shaft fractures had the best outcomes for non-union. Conclusions OI adults were prone to developing femur fractures and non-unions. Especially type 4 OI adults, with conservatively treated shaft fractures, were at high risk for non-unions.

Incidence and treatment of adult femoral fractures with osteogenesis imperfecta: An analysis of a center of 72 patients in Taiwan

“…Eleven patients had 15 femoral fractures (15.3%) and 4 non-unions (26.7%). Adults with type 4 OI tended to develop non-unions by conservative treatment for midshaft fractures similar to a previous study 18 . For all types of femoral fractures, the incidence was 651 fractures per 100,000 person-years annually.…”

Sliding bone graft combined with double locking plate fixation for the treatment of femoral shaft nonunion

“…Femoral shaft fractures are commonly observed in the clinic, 16,17 and the patient is at risk of deformity and dysfunction of the lower limb if they do not receive appropriate treatment. 18,19 Nonunion is a common complication of femoral shaft fracture, which may severely impact patient femoral function.…”

Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research

“…A study in children and adolescents with OI type I caused by COL1A1 haploinsufficiency mutations suggested that the rate of femur and tibia fractures was about 90 times higher than in their healthy peers . In adults with OI, it has been estimated that the incidence of femoral shaft fractures is about 35 times higher than in the general population …”

“…(37) In adults with OI, it has been estimated that the incidence of femoral shaft fractures is about 35 times higher than in the general population. (38) Diaphyseal femur fractures are thus common in OI. Such fractures often occur after minimal trauma, are often transverse, are almost always complete, and are non-or minimally comminuted, thereby fulfilling four major criteria for establishing a diagnosis of atypical femur fractures, as defined for fractures that occur in the context of postmenopausal osteoporosis.…”