Reasonable Hypothesis SOP [1] | 53 of 2023 |
Balance of Probabilities SOP [2] | 54 of 2023 |
SOP Bulletin 236 [3]
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.
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.
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.
Place holder node for Rulebase for osteogenesis imperfecta
Osteogenesis imperfecta - Inability to obtain appropriate clinical management for osteogenesis imperfecta Factor
Last reviewed for CCPS 10 March 1995.
Investigative Documents
Medical Report - Inability to Obtain Appropriate Clinical Management - [GQACM] Preliminary questions [8428]
8429 [6] the clinical onset of the veteran's osteogenesis imperfecta occurred after the end of the veteran's last period of VEA service. the veteran's osteogenesis imperfecta permanently worsened. the veteran was unable to obtain appropriate clinical management for osteogenesis imperfecta at some time.
8451 [9] the inability to obtain appropriate clinical management for osteogenesis imperfecta contributed to the clinical worsening of the veteran's osteogenesis imperfecta. 8453 — the veteran has established the causal connection between the inability to obtain appropriate clinical management for osteogenesis imperfecta and VEA service for the clinical worsening of osteogenesis imperfecta. 8454 — the veteran has established the causal connection between the inability to obtain appropriate clinical management for osteogenesis imperfecta and operational service for the clinical worsening of osteogenesis imperfecta. or 8455 — the veteran has established the causal connection between the inability to obtain appropriate clinical management for osteogenesis imperfecta and eligible service for the clinical worsening of osteogenesis imperfecta. Clinical worsening and operational service [8454] or 8462 — the identified illness or injury which prevented the veteran from obtaining appropriate clinical management for osteogenesis imperfecta is causally related to operational service. [14] [15] 8464 — osteogenesis imperfecta was suffered prior to that part of the operational service to which the identified illness or injury that prevented the veteran from obtaining appropriate clinical management for osteogenesis imperfecta is causally related. [16] Clinical worsening and eligible service [8455] or
8463 — the identified illness or injury which prevented the veteran from obtaining appropriate clinical management for osteogenesis imperfecta is causally related to eligible service. [20] [15]
8465 — osteogenesis imperfecta was suffered prior to that part of the eligible service to which the identified illness or injury that prevented the veteran from obtaining appropriate clinical management for osteogenesis imperfecta is causally related. [21]
Osteogenesis imperfecta - Physical trauma Factor
Last reviewed for CCPS 10 March 1995.
Investigative Documents
Medical Report - Worsening - [GQWRS] Preliminary questions [8426] 8427 — the veteran has suffered a physical trauma at some time. 8432 — the veteran has established the causal connection between the physical trauma and VEA service for the clinical worsening of osteogenesis imperfecta. 8435 — the veteran has established the causal connection between the physical trauma and operational service for the clinical worsening of osteogenesis imperfecta. or 8436 — the veteran has established the causal connection between the physical trauma and eligible service for the clinical worsening of osteogenesis imperfecta. Clinical worsening and operational service [8435] 8438 — the clinical onset of the veteran's osteogenesis imperfecta occurred prior to the physical trauma. [Default true] or 8445 — the identified illness or injury which caused the physical trauma prior to the clinical worsening of osteogenesis imperfecta is causally related to operational service. [25] [26] 8447 — osteogenesis imperfecta was suffered prior to that part of the operational service to which the identified illness or injury which caused the physical trauma is causally related. [Default true] Clinical worsening and eligible service [8436] 8438 — the clinical onset of the veteran's osteogenesis imperfecta occurred prior to the physical trauma. [Default true] or
8446 — the identified illness or injury which caused the physical trauma prior to the clinical worsening of osteogenesis imperfecta is causally related to eligible service. [30] [26]
8448 — osteogenesis imperfecta was suffered prior to that part of the eligible service to which the identified illness or injury which caused the physical trauma is causally related. [Default true]
Links
[1] http://www.rma.gov.au/assets/SOP/2023/261181ed6c/053.pdf
[2] http://www.rma.gov.au/assets/SOP/2023/437d017b2e/054.pdf
[3] https://clik.dva.gov.au/system/files/media/SOP%20Bulletin%20236.pdf
[4] https://clik.dva.gov.au/user/login?destination=comment/reply/63927%23comment-form
[5] https://clik.dva.gov.au/ccpsother-31
[6] https://clik.dva.gov.au/node/70665
[7] clikpopup://CCPS/Reject/OnsetAfterService
[8] clikpopup://CCPS/Reject/NoPermanentWorsening
[9] clikpopup://CCPS/Osteogenesis imperfecta/ACM - contributed to worsening
[10] clikpopup://CCPS/ACM/NoContribution
[11] clikpopup://CCPS/ACM/NotOpService
[12] clikpopup://CCPS/ACM/NotOperDuties
[13] clikpopup://CCPS/rejectwilful
[14] clikpopup://CCPS/ACM/NoIllness
[15] clikpopup://CCPS/reject8462,8463No
[16] clikpopup://CCPS/ACM/OnsetFailOper
[17] clikpopup://CCPS/Osteogenesis imperfecta/ACM - eligible service
[18] clikpopup://CCPS/ACM/NotEligService
[19] clikpopup://CCPS/ACM/NotEligDuties
[20] clikpopup://CCPS/ACM/IllnessNotElig
[21] clikpopup://CCPS/ACM/OnsetFailElig
[22] https://clik.dva.gov.au/ccpsother-1
[23] clikpopup://CCPS/reject8431No
[24] clikpopup://CCPS/reject8439No
[25] clikpopup://CCPS/reject8444No
[26] clikpopup://CCPS/reject8445,8446No
[27] https://clik.dva.gov.au/onset-screen-1
[28] clikpopup://CCPS/reject8440No
[29] clikpopup://CCPS/reject8441No
[30] clikpopup://CCPS/reject8446No