Evaluation of the efficacy of bisphosphonate therapy in adult patients with osteogenesis imperfecta

Background: Osteogenesis imperfecta (OI) is a rare, inherited connective tissue disorder characterized by decreased bone density and recurrent low-trauma fractures. Bisphosphonates (BF) are currently used to increase bone density and reduce the incidence of new fractures, but the available data mainly concern the use of BF in children. At the same time, due to the early initiation of antiresorptive therapy, an increasing number of patients with OI are reaching adulthood, which requires determining the indications and evaluating the effectiveness of BF therapy in adult patients with OI.

Aims: Evaluation of the efficacy of bisphosphonate therapy in adult patients with osteogenesis imperfecta.

Materials and methods: A longitudinal comparative study of 45 patients with osteogenesis imperfecta was conducted at the Clinic of the Bashkir State Medical University (BSMU). 24 patients received a single dose of zoledronic acid 5 mg / 100 ml intravenously by drip. Bone mineral density (BMD) was determined using X-ray densitometry. The level of pain syndrome was assessed using a visual analogue scale. Connective tissue dysplasia (CTD) was assessed using a modified table by T.I. ­Kadurina.

Results: Statistically significant differences were observed when comparing BMI in patients with OI types I and III (23.6±4.6; 28.5±5.9; p=0.0183), I and V (23.6±4.6; 30.8±8.2; p=0.014). There were no statistically significant differences in the levels of CTD scoring, pain syndrome according to VAS and z-score between different types of the disease. Patients who received BF at BGMU showed a statistically significant decrease in pain syndrome (p<0.0001) and an increase in the z-criterion level (p=0.045) one year after the drug administration, regardless of the presence of previous bisphosphonate treatment. When conducting a correlation analysis in patients with OI, a moderate inverse correlation was found between BMD and the number of fractures (r=-0.488, p=0.001). The number of fractures also correlated with BMI (r=0.337, p=0.024). The severity of phenotypic signs of connective tissue dysplasia had a direct moderate correlation with the level of pain syndrome (r=0.408, p=0.005).

Conclusions: In adult patients with OI, low levels of BMD and z-score are maintained, and persistent bone pain syndrome not associated with fractures is present. The intensity of these parameters does not depend on the presence of previous therapy with bisphosphonates. Treatment with drugs from this group is effective, since a statistically significant increase in BMD and z-score according to the results of densitometry, and a statistically significant decrease in the level of pain syndrome in the bones were observed. The main indications for BF administration are: the presence of fractures within a year, low densitometry values (z-score <-2.0), and the presence of severe, moderate, persistent bone pain (VAS > 5 points).

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