Osteogenesis imperfecta: Review of 40 patients

Abstract

Introduction: Osteogenesis imperfecta (OI) is a heterogeneous genetic disease manifesting as bone fragility and fractures.

Patients and methods: Retrospective descriptive study analysing clinical and genetic features, and treatment of patients with OI.

Results: Forty patients were included; 32.5% males, 67.5% females; 29 children, 11 adults. Number of fractures at diagnosis with mild OI was 4.6±6.4 (average age at diagnosis 7.8±12.8years), with moderate OI 1.7±2.4 (age at diagnosis .04±.3years), in severe OI 3.7±2.1 and in extremely severe forms 12.5±7.8, both groups diagnosed at birth. Genetic study in 32 patients, 25 with a positive genetic study (pathogenic/probably pathogenic variant). COL1A1 gene was the most frequently affected. In 7 patients, no pathogenic or probably pathogenic variant was found (5 diagnosed by biochemical study of typeI collagen). Nineteen patients were treated with bisphosphonates; 7 combined with growth hormone. The patients treated with bisphosphonates showed clinical improvement (reduction of bone pain and/or irritability) and reduction of fractures.

Conclusions: The COL1A1 gene is the most frequently affected. OI patients should receive multidisciplinary management and bisphosphonates can improve their quality of life.

Keywords: Bifosfonatos; Biphosphonates; COL1A1; COL1A2; CRTAP; Osteogenesis imperfecta; Osteogénesis imperfecta; P3H1/LEPRE1.