History
The typical presentation is with:
- Multiple Low trauma fractures typically with onset during childhood adolescence
- Continued fractures during adult life
- Back pain or height loss
- Deafness
- Dental problems
- Soft tissue injuries and ligament laxity
- Many patients have a positive family history but this is not always present or necessary to make the diagnosis
Examination
- Blue sclerae (in about 80% of cases).
- Joint hypermobility.
- Bone deformity (in severe cases)
- Short stature
Investigations
- Routine biochemistry and vitamin D
- X-ray thoracic and lumbar spine if height loss or back pain
Management
- Lifestyle advice. Take a good diet with sufficient dietary calcium and vitamin D
- Consider vitamin D supplements during the winter months
- Strength and balance exercises
- Consult NHS Falls advice webpage: https://www.nhs.uk/conditions/falls/
- Bone targeted drugs such as bisphosphonate’s are not effective at reducing fracture risk
M.A & S.R – 28-9-26
Who can refer
GPs, ANP
When to refer
Patients with suspected or known osteogenesis imperfecta should be referred to the osteoporosis service.
How to refer
Via SCI gateway : WGH > Rheumatology > LI Rheumatology Referral
Please state in the referral “FAO Osteoporosis Service”
Initial management
Treat on a symptomatic basis with analgesics or NSAID to control pain pending clinic review if necessary.
Bisphosphonates and bone anabolic drugs have not been shown to reduce fracture risk in adults with osteogenesis imperfecta and should not be prescribed routinely.
Calcium and vitamin D supplements may be prescribed if dietary calcium is low and/or vitamin D levels are low.
Brittle Bone Society – https://www.brittlebone.org/
