Brittle Bone Society best practice management recommendations for adults with severe Osteogenesis Imperfecta (OI), including type III OI: a consensus statement from a multi-disciplinary severe OI working group

Abstract

Osteogenesis imperfecta (OI) in adults is associated with increased fracture risk and extra-skeletal complications. Clinical assessment and management of adults living with severe OI is complicated by the fact that the disease is rare; involvement of both musculoskeletal and extra-musculoskeletal systems; challenges associated with paediatric-to-adult transition and rarely, misdiagnosis of other bone disorders with similar clinical presentation, such as hypophosphatasia. Management of patients with severe OI (usually Sillence type III and IV) requires continuous inter-specialty collaboration and frequent regional specialist input, placing significant burdens on both clinicians and patients. The aim of this best practice guidance is to inform patients, their families, carers, generalist and specialist health professionals, and multidisciplinary clinical teams in the NHS, regarding the best practice of care for adults living with severe OI. A multi-disciplinary working group of clinicians, researchers, and patient advocates developed UK-best clinical practice guidelines for the diagnosis and management of adults with severe OI using a consensus-based approach. Given the lack of robust evidence to inform current care, these guidelines were written based on a review of the current literature, clinical expertise of the authors who have extensive experience managing patients with severe OI, and ongoing input from patients with lived experience. The guideline is divided into (1) Diagnosis – radiology, laboratory and genetic investigations; (2) Assessment – general wellbeing, musculoskeletal (fracture history, falls, mobility, pain, spine, physiotherapy and occupational therapist), extra-skeletal (dental, hearing, ophthalmic, cardiovascular, respiratory, gastrointestinal, mental health, women’s health) and radiological assessment considerations; (3) Management – multidisciplinary coordination, transition, condition awareness, lifestyle, bone strength, physiotherapy and occupational therapy, pain, orthopaedic, scoliosis, dental, hearing, mental health, women’s health general and specific measures, and monitoring. Checklists for clinicians and individuals with severe OI were developed based on the recommendations. These guidelines should inform benchmarking of care for adults with severe OI and the development of new services, improvement of existing services, as well as highlighting service gaps for clinical and research communities. Not applicable.