Bone Abstracts

Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and other connective tissue manifestations with a wide spectrum of clinical expressions. Even though the main problems come from the skeleton, we have to make an overall examination including skeletal deformities, joints and muscles, hearing, sight, teeth, heart, lungs and gastrointestinal organs to establish optimal follow up guidelines for people with OI. These examinations should then provide the basis for an individually adapted follow up where one has taken into account type of OI, age and specific findings.

There are several studies and reports on follow up routines and treatment of children with OI. Few studies have however described clinical and social aspects in adults with OI, and especially the consequences of ageing. Distinctions may be made between the biologic ageing process (age changes that all people share), and the “probabilistic ageing process” (age changes that may happen to some, but not all people as they grow older) which may be influenced by OI. This overlap of processes should also be taken into consideration when making follow up programs for adults.

The plan for supervision is meant to give information needed to prevent complications related to OI, and to limit the loss of function. It should be a tool for persons with OI (and their families), the GPs and other health–-professionals who are giving care to persons with OI. The presentation will give a systematic overview over key clinical alterations and suggestions for follow up routines.

Learning objectives

- Osteognesis imerfecta in adults is about much more than the skeleton

- Type of OI, age and clinical findings have to be taken in to account when making the plan for follow up