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Osteogenesis Imperfecta P006

Document
Last amended 
30 June 2015
Current RMA Instruments:
Reasonable Hypothesis SOP
35 of 2015
Balance of Probabilities SOP
36 of 2015
Changes from Previous Instruments:

SOP Bulletin 179

ICD Coding:
  • ICD-9-CM Codes: 756.51
  • ICD-10-AM Codes: Q78.0

This is a genetic disorder of collagen synthesis which affects bone and other connective tissue of the body.

Is specific diagnostic evidence required to apply the SOP?Yes.

This diagnosis is based on specialist physician opinion with recourse to MRI [magnetic resonance imaging] scans of bone, genetic testing, audiograms.

Are there sub-factors that require specific information? – No.

The only factor is for clinical worsening from inability to obtain appropriate clinical management. It is difficult to ascertain a clinical worsening given the progressive nature of the disorder. See notes below.

Additional diagnoses covered by SOP
  • Nil
Unconfirmed diagnosis

If, after applying the above information, you are unable to confirm the diagnosis, you should then seek medical officer advice about further investigation.

Notes on appropriate clinical management

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.