Medicines for Osteogenesis imperfecta

What it is

Osteogenesis imperfecta (OI), often called brittle bone disease, is an inherited condition in which the bones are fragile and break (fracture) easily, often from little or no obvious injury. It is usually caused by a change in the genes involved in making collagen — a protein that gives bones their strength and structure — so the bones are weaker than normal. There are several types, and the severity varies enormously: from mild forms, where a person may have relatively few fractures and a fairly normal life, to severe forms that cause frequent fractures, bone deformity, and significant challenges, sometimes apparent from birth. As well as fragile bones, features can include (depending on the type and severity): a blue or grey tint to the whites of the eyes, hearing loss (which can develop over time), brittle or discoloured teeth, loose joints, short stature, and a tendency to bruise. Because bones can break easily, and because managing fractures, bone strength, mobility and other features is important, OI is managed by a specialist multidisciplinary team, with care tailored to the type and severity. Many people with OI, particularly milder forms, lead full and active lives with the right support.

How it is treated

OI is managed by a specialist multidisciplinary team, with a coordinated approach tailored to the type and severity, aiming to strengthen the bones, prevent and treat fractures, support mobility and function, and manage the other features. Key elements include: prompt and appropriate treatment of fractures (with care in how they are managed to support healing and function); medicines that strengthen bone (bisphosphonates are commonly used, particularly in more significant OI, and can reduce fracture rates and bone pain); physiotherapy and occupational therapy to build strength, support safe movement and mobility, and prevent problems from inactivity, along with appropriate exercise (staying active within safe limits is beneficial for bones and general health); and equipment, aids and adaptations as needed. Attention to the other features — such as hearing (with monitoring and treatment as needed), dental care, and, in some, spinal or other issues — is part of comprehensive care. Managing bone health more generally (such as ensuring good vitamin D and calcium, and, in adults, considering bone-protective measures) is important. Support for the person and family, pain management, and psychological and practical support all matter. Genetic counselling is offered. The reassuring message is that osteogenesis imperfecta is managed with a coordinated approach — strengthening bones, preventing and treating fractures, and supporting mobility and the other features — and that, particularly in milder forms, many people lead full, active lives with the right support.