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Osteogenesis Imperfecta P006
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Current RMA Instruments
|Reasonable Hypothesis SOP||53 of 2023|
|Balance of Probabilities SOP||54 of 2023|
Changes from previous Instruments
ICD-10-AM Code: Q78.0
This is a genetic disorder of collagen synthesis which affects bone and other connective tissue of the body. It is also known as brittle bone disease. Manifestations range from premature osteoporosis to multiple fractures with minimal trauma.
Confirming the diagnosis
This diagnosis is based on the clinical manifestations and family history. There is no definitive laboratory test other than specialised genetic testing that can be performed by some research laboratories.
The relevant medical specialist is a paediatrician or general physician.
Additional diagnosis covered by SOP
- Brittle bone disease
- Multiple fractures due to osteogenesis imperfecta can be considered part of the disease process. Single fractures can also be dealt with using the facture SOP.
The genetic defect is present at birth. Manifestations usually develop in early childhood. Mild disease may not be apparent until later in life.
Worsening beyond the normal progression of the disease needs to be evident before a clinical worsening factor can be considered.
Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with many phenotypic presentations. Severely affected patients suffer multiple fractures with minimal or no trauma, and infants with the worst form of OI die in the perinatal period. Mild forms of OI may manifest with only premature osteoporosis or severe postmenopausal bone mineral loss.
The goals of therapy for patients with OI are to reduce fracture rates, prevent long-bone deformities and scoliosis, minimize chronic pain, and to maximize mobility and other functional capabilities. The prognosis depends upon the type of OI. Patients with mild OI (type I) typically have a few childhood fractures, no long bone deformity, and a normal life expectancy. Patients with moderate to severe (types III to IX) have an increased risk of premature death in both childhood and adult life compared with the general population. Shortened lifespan may be related to immobility and thoracic deformities. These problems create an increased risk of severe pulmonary infections and subsequent loss of lung function.