Objectives: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affects the bones. The underlying mechanism is usually a disorder of connective tissue due to lack of type I collagen. Usually, the disease is due to mutations in the COL1A1 or COL1A2 genes. The disease is inherited in an autosomal dominant manner or occurs via a de novo mutation. There are eight types of the disease. Type I is the most common and the least sever type and is due to mutation in COL1A1 gene. We evaluated the clinical, laboratory and radiological profile of a woman with OI Type I who was treated over a 3-years period in our clinic.
Methods: A 61-year old female patient with family history of OI (son and sister) was treated in our clinic. She had history of multiple repeated fractures since 18 years old, short stature (138 cm), discoloration of the sclera, dental abnormalities, poor muscle tone in arms and legs, triangular face and skeletal deformities such as osteoporosis, spinal canal stenosis and kyphoscoliosis. Bone densitometry found severe osteoporosis. Treatment included zoledronic acid IV, vitamin D and calcium carbonate per os.
Results: After treatment with zoledronic acid the patient reported reduced bone pain and had stable bone mass (0.547 g/cm2 before treatment and 0.535 g/cm2 (femoral neck) after treatment) and increased T-score (femoral neck) (−3.3 SD before treatment and −2.88 SD after treatment, 3 years later).
Conclusion: Osteogenesis imperfecta is a heterogeneous disease and may have an indolent course. The diagnosis may be brought forward late in adulthood. The management includes the replacement of a calcium and vitamin D deficit and biphosphonates. Bisphosphonates remain effective and can increase bone mass, reduce bone pain and fractures.
20 - 23 May 2017
European Society of Endocrinology